Publications

Dysferlin function

  • Bansal D, Campbell KP
    Dysferlin and the plasma membrane repair in muscular dystrophy
    Trends Cell Biol 2004, 14(4):206-213
  • Bansal D, Miyake K, Vogel SS, Groh S, Chen CC, Williamson R, McNeil PL, Campbell KP
    Defective membrane repair in dysferlin-deficient muscular dystrophy
    Nature 2003, 423(6936):168-172
  • Blandin G, Marchand S, Charton K, Danièle N, Gicquel E, Boucheteil JB, Bentaib A, Barrault L, Stockholm D, Bartoli M, Richard I.
    A human skeletal muscle interactome centered on proteins involved in muscular dystrophies: LGMD interactome
    Skelet Muscle. 2013 Feb 15;3(1):3. doi: 10.1186/2044-5040-3-3.
  • Cacciottolo M, Belcastro V, Laval S, Bushby K, di Bernardo D, Nigro V
    Reverse engineering gene network identifies new dysferlin-interacting proteins
    J Biol Chem 2011, 286(7):5404-5413
  • Cai C, Weisleder N, Ko JK, Komazaki S, Sunada Y, Nishi M, Takeshima H, Ma J
    Membrane repair defects in muscular dystrophy are linked to altered interaction between MG53, caveolin-3, and dysferlin
    The Journal of biological chemistry 2009, 284(23):15894-15902
  • Chase TH, Cox GA, Burzenski L, Foreman O, Shultz LD
    Dysferlin deficiency and the development of cardiomyopathy in a mouse model of limb-girdle muscular dystrophy 2B
    Am J Pathol 2009, 175(6):2299-2308
  • Covian-Nares JF, Koushik SV, Puhl HL, 3rd, Vogel SS
    Membrane wounding triggers ATP release and dysferlin-mediated intercellular calcium signaling
    J Cell Sci 2010, 123(Pt 11):1884-1893
  • Davis DB, Doherty KR, Delmonte AJ, McNally EM
    Calcium-sensitive phospholipid binding properties of normal and mutant ferlin C2 domains
    J Biol Chem 2002, 277(25):22883-22888
  • de Morree A, Hensbergen PJ, van Haagen HH, Dragan I, Deelder AM, t Hoen PA, Frants RR, van der Maarel SM
    Proteomic analysis of the dysferlin protein complex unveils its importance for sarcolemmal maintenance and integrity
    PLoS One 2010, 5(11):e13854
  • Glover L, Brown RH, Jr.
    Dysferlin in membrane trafficking and patch repair
    Traffic 2007, 8(7):785-794
  • Jethwaney D, Islam MR, Leidal KG, de Bernabe DB, Campbell KP, Nauseef WM, Gibson BW
    Proteomic analysis of plasma membrane and secretory vesicles from human neutrophils
    Proteome Sci 2007, 5:12
  • Krahn M, Wein N, Bartoli M, Lostal W, Courrier S, Bourg-Alibert N, Nguyen K, Vial C, Streichenberger N, Labelle V et al
    A naturally occurring human minidysferlin protein repairs sarcolemmal lesions in a mouse model of dysferlinopathy
    Science translational medicine 2010, 2(50):50ra69
  • Krajacic P, Hermanowski J, Lozynska O, Khurana TS, Lamitina T
    C. elegans dysferlin homolog fer-1 is expressed in muscle, and fer-1 mutations initiate altered gene expression of muscle enriched genes
    Physiol Genomics 2009, 40(1):8-14
  • Lek A, Lek M, North KN, Cooper ST
    Phylogenetic analysis of ferlin genes reveals ancient eukaryotic origins
    BMC Evol Biol 2010, 10:231
  • Nagaraju K, Rawat R, Veszelovszky E, Thapliyal R, Kesari A, Sparks S, Raben N, Plotz P, Hoffman EP
    Dysferlin deficiency enhances monocyte phagocytosis: a model for the inflammatory onset of limb-girdle muscular dystrophy 2B
    Am J Pathol 2008, 172(3):774-785
  • Roche JA, Lovering RM, Bloch RJ
    Impaired recovery of dysferlin-null skeletal muscle after contraction-induced injury in vivo
    Neuroreport 2008, 19(16):1579-1584
  • Schoewel V, Marg A, Kunz S, Overkamp T, Carrazedo RS, Zacharias U, Daniel PT, Spuler S.
    Dysferlin-peptides reallocate mutated dysferlin thereby restoring function.
    PLoS One. 2012;7(11):e49603
  • Selcen D, Stilling G, Engel AG
    The earliest pathologic alterations in dysferlinopathy
    Neurology 2001, 56(11):1472-1481
  • Sharma A, Yu C, Leung C, Trane A, Lau M, Utokaparch S, Shaheen F, Sheibani N, Bernatchez P
    A new role for the muscle repair protein dysferlin in endothelial cell adhesion and angiogenesis
    Arterioscler Thromb Vasc Biol 2010, 30(11):2196-2204
  • Wang B, Yang Z, Brisson BK, Feng H, Zhang Z, Welch EM, Peltz SW, Barton ER, Brown RH, Jr., Sweeney HL
    Membrane blebbing as an assessment of functional rescue of dysferlin-deficient human myotubes via nonsense suppression
    Journal of applied physiology 2010, 109(3):901-905

Dysferlin structure

  • Aartsma-Rus A, Singh KH, Fokkema IF, Ginjaar IB, van Ommen GJ, den Dunnen JT, van der Maarel SM
    Therapeutic exon skipping for dysferlinopathies?
    Eur J Hum Genet 2010, 18(8):889-894
  • Azakir BA, Di Fulvio S, Therrien C, Sinnreich M
    Dysferlin interacts with tubulin and microtubules in mouse skeletal muscle
    PLoS One 2010, 5(4):e10122
  • Davis DB, Doherty KR, Delmonte AJ, McNally EM
    Calcium-sensitive phospholipid binding properties of normal and mutant ferlin C2 domains
    J Biol Chem 2002, 277(25):22883-22888
  • Luan X, Hong D, Zhang W, Wang Z, Yuan Y
    A novel heterozygous deletion-insertion mutation (2695-2712 del/GTTTGT ins) in exon 18 of the filamin C gene causes filaminopathy in a large Chinese family
    Neuromuscul Disord 2010, 20(6):390-396
  • Matsuda C, Miyake K, Kameyama K, Keduka E, Takeshima H, Imamura T, Araki N, Nishino I, Hayashi Y.
    The C2A domain in dysferlin is important for association with MG53 (TRIM72)
    PLoS Curr. 2012 Nov 5;4:e5035add8caff4.
  • Patel P, Harris R, Geddes SM, Strehle EM, Watson JD, Bashir R, Bushby K, Driscoll PC, Keep NH
    Solution structure of the inner DysF domain of myoferlin and implications for limb girdle muscular dystrophy type 2b
    J Mol Biol 2008, 379(5):981-990
  • Ponting CP, Mott R, Bork P, Copley RR
    Novel protein domains and repeats in Drosophila melanogaster: insights into structure, function, and evolution
    Genome Res 2001, 11(12):1996-2008
  • Therrien C, Di Fulvio S, Pickles S, Sinnreich M
    Characterization of lipid binding specificities of dysferlin C2 domains reveals novel interactions with phosphoinositides
    Biochemistry 2009, 48(11):2377-2384
  • Xu L, Pallikkuth S, Hou Z, Mignery GA, Robia SL, Han R.
    Dysferlin forms a dimer mediated by the C2 domains and the transmembrane domain in vitro and in living cells
    PLoS One. 2011;6(11):227884

Localization

  • Ampong BN, Imamura M, Matsumiya T, Yoshida M, Takeda S
    Intracellular localization of dysferlin and its association with the dihydropyridine receptor
    Acta Myol 2005, 24(2):134-144
  • Anderson LV, Davison K, Moss JA, Young C, Cullen MJ, Walsh J, Johnson MA, Bashir R, Britton S, Keers S et al
    Dysferlin is a plasma membrane protein and is expressed early in human development
    Hum Mol Genet 1999, 8(5):855-861
  • de Morree A, Hensbergen PJ, van Haagen HH, Dragan I, Deelder AM, t Hoen PA, Frants RR, van der Maarel SM
    Proteomic analysis of the dysferlin protein complex unveils its importance for sarcolemmal maintenance and integrity
    PLoS One 2010, 5(11):e13854
  • Evesson FJ, Peat RA, Lek A, Brilot F, Lo HP, Dale RC, Parton RG, North KN, Cooper ST
    Reduced plasma membrane expression of dysferlin mutants is attributed to accelerated endocytosis via a syntaxin-4-associated pathway
    J Biol Chem 2010, 285(37):28529-28539
  • Han WQ, Xia M, Xu M, Boini KM, Ritter JK, Li NJ, Li PL
    Lysosome fusion to the cell membrane is mediated by the dysferlin C2A domain in coronary arterial endothelial cells
    J cell Sci 2012 Mar 1; 125(Pt 5); 1225-34
  • Hernandez-Deviez DJ, Howes MT, Laval SH, Bushby K, Hancock JF, Parton RG
    Caveolin regulates endocytosis of the muscle repair protein, dysferlin
    J Biol Chem 2008, 283(10):6476-6488
  • Hernandez-Deviez DJ, Martin S, Laval SH, Lo HP, Cooper ST, North KN, Bushby K, Parton RG
    Aberrant dysferlin trafficking in cells lacking caveolin or expressing dystrophy mutants of caveolin-3
    Hum Mol Genet 2006, 15(1):129-142
  • Huang Y, Laval SH, van Remoortere A, Baudier J, Benaud C, Anderson LV, Straub V, Deelder A, Frants RR, den Dunnen JT et al
    AHNAK, a novel component of the dysferlin protein complex, redistributes to the cytoplasm with dysferlin during skeletal muscle regeneration
    FASEB J 2007, 21(3):732-742
  • Ikezoe K, Furuya H, Ohyagi Y, Osoegawa M, Nishino I, Nonaka I, Kira J
    Dysferlin expression in tubular aggregates: their possible relationship to endoplasmic reticulum stress
    Acta Neuropathol 2003, 105(6):603-609
  • Klinge L, Laval S, Keers S, Haldane F, Straub V, Barresi R, Bushby K
    From T-tubule to sarcolemma: damage-induced dysferlin translocation in early myogenesis
    FASEB J 2007, 21(8):1768-1776
  • Matsuda C, Hayashi YK, Ogawa M, Aoki M, Murayama K, Nishino I, Nonaka I, Arahata K, Brown RH, Jr.
    The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle
    Hum Mol Genet 2001, 10(17):1761-1766
  • Matsuda C, Kameyama K, Tagawa K, Ogawa M, Suzuki A, Yamaji S, Okamoto H, Nishino I, Hayashi YK
    Dysferlin interacts with affixin (beta-parvin) at the sarcolemma
    J Neuropathol Exp Neurol 2005, 64(4):334-340
  • Roche JA, Ru LW, O’Neill AM, Resneck WG, Lovering RM, Bloch RJ.
    Unmasking potential intracellular roles for dysferlin through improved immunological labeling methods
    J Histochem Cytochem. 2011 Nov;59(11)96-75
  • Waddell LB, Lemckert FA, Zheng XF, Tran J, Evesson FJ, Hawkes JM, Lek A, Street NE, Lin P, Clarke NF et al
    Dysferlin, Annexin A1, and Mitsugumin 53 Are Upregulated in Muscular Dystrophy and Localize to Longitudinal Tubules of the T-System With Stretch
    Journal of neuropathology and experimental neurology 2011, 70(4):302-313
  • Yan M, Rachubinski DA, Joshi S, Rachubinski RA, Subramani S
    Dysferlin domain-containing proteins, Pex30p and Pex31p, localized to two compartments, control the number and size of oleate-induced peroxisomes in Pichia pastoris
    Mol Biol Cell 2008, 19(3):885-898

Clinical Reviews

  • Amato AA, Brown RH Jr.
    Dysferlinopathies
    Handb Clin Neurol. 2011;101-111-8
  • Angelini C, Peterle E, Gaiani A, Bortolussi L, Borsato C
    Dysferlinopathy course and sportive activity: clues for possible treatment
    Acta Myol. 2011 Oct;30(2):127-32
  • Aoki M
    Dysferlinopathy
    1993
  • Brummer D, Walter MC, Palmbach M, Knirsch U, Karitzky J, Tomczak R, Braun C, Grundhoff N, Bornemann A, Muller CR et al
    Long-term MRI and clinical follow-up of symptomatic and presymptomatic carriers of dysferlin gene mutations
    Acta Myol 2005, 24(1):6-16
  • Bushby KM
    Making sense of the limb-girdle muscular dystrophies
    Brain 1999, 122 ( Pt 8):1403-1420
  • Cacciottolo M, Numitone G, Aurino S, Caserta IR, Fanin M, Politano L, Minetti C, Ricci E, Piluso G, Angelini C, Nigro V.
    Muscular dystrophy with marked dysferlin deficiency is consistently caused by primary dysferlin gene mutations
    Eur J Hum Genet. 2011 Sept; 19(9):974-80
  • Jaiswal JK, Marlow G, Summerill G, Mahjneh I, Mueller S, Hill M, Miyake K, Haase H, Anderson LV, Richard I et al
    Patients with a non-dysferlin Miyoshi myopathy have a novel membrane repair defect
    Traffic 2007, 8(1):77-88
  • Kesper K, Kornblum C, Reimann J, Lutterbey G, Schroder R, Wattjes MP
    Pattern of skeletal muscle involvement in primary dysferlinopathies: a whole-body 3.0-T magnetic resonance imaging study
    Acta Neurol Scand 2009, 120(2):111-118
  • Krahn M, Beroud C, Labelle V, Nguyen K, Bernard R, Bassez G, Figarella-Branger D, Fernandez C, Bouvenot J, Richard I et al
    Analysis of the DYSF mutational spectrum in a large cohort of patients
    Human mutation 2009, 30(2):E345-375
  • Linssen WH, de Voogt WG, Krahn M, Bernard R, Levy N, Wokke JH, Ginjaar HB, de Visser M.
    Long-term follow-up study on patients with Miyoshi phenotype of distal muscular dystrophy
    Eur J Neurol. 2013 Mar 26. doi: 10.1111/ene.12129. [Epub ahead of print]
  • Luna ND, Díaz-Manera J, Paradas C, Iturriaga C, Rojas-García R, Araque J, Genebriera M, Gich I, Illa I, Gallardo E.
    1α,25(OH)(2)-Vitamin D3 increases dysferlin expression in vitro and in a human clinical trial
    Mol Ther. 2012 Oct;20(10):1988-97.
  • Matsuda C, Aoki M, Hayashi YK, Ho MF, Arahata K, Brown RH, Jr.
    Dysferlin is a surface membrane-associated protein that is absent in Miyoshi myopathy
    Neurology 1999, 53(5):1119-1122
  • Nguyen K, Bassez G, Bernard R, Krahn M, Labelle V, Figarella-Branger D, Pouget J, Hammouda el H, Beroud C, Urtizberea A et al
    Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies
    Hum Mutat 2005, 26(2):165
  • Nilsson MI, Laureano ML, Saeed M, Tarnopolsky MA
    Dysferlin aggregation in limb-girdle muscular dystrophy type 2B/myoshi myopathy necessitates mutational screen for diagnosis
    Muscle Nerve. 2013 May;47(5):740-7. doi: 10.1002/mus.23666. Epub 2013 Mar 21.
  • Paradas C, Llauger J, Diaz-Manera J, Rojas-Garcia R, De Luna N, Iturriaga C, Marquez C, Uson M, Hankiewicz K, Gallardo E et al
    Redefining dysferlinopathy phenotypes based on clinical findings and muscle imaging studies
    Neurology 2010, 75(4):316-323
  • Rosales XQ, Gastier-Foster JM, Lewis S, Vinod M, Thrush DL, Astbury C, Pyatt R, Reshmi S, Sahenk Z, Mendell JR
    Novel diagnostic features of dysferlinopathies
    Muscle Nerve 2010, 42(1):14-21
  • Selcen D, Stilling G, Engel AG
    The earliest pathologic alterations in dysferlinopathy
    Neurology 2001, 56(11):1472-1481
  • Takahashi T, Aoki M, Suzuki N, Tateyama M, Yaginuma C, Sato H, Hayasaka M, Sugawara H, Ito M, Abe-Kondo E, Shimakura N, Ibi T, Kuru S, Wakayama T, Sobue G, Fujii N, Saito T, Matsumura T, Funakawa I, Mukai E, Kawanami T, Morita M, Yamazaki M, Hasegawa T, Shimizu J, Tsuji S, Kuzuhara S, Tanaka H, Yoshioka M, Konno H, Onodera H, Itoyama Y.
    Clinical features and a mutation with late onset of limb girdle muscular dystrophy 2B
    J Neurol Neurosurg Psychiatry. 2013 Apr;84(4):433-40. doi: 10.1136/jnnp-2011-301339. Epub 2012 Dec 15.
  • Tsao CY, Mendell JR
    The childhood muscular dystrophies: making order out of chaos
    Semin Neurol 1999, 19(1):9-23
  • Ueyama H, Kumamoto T, Horinouchi H, Fujimoto S, Aono H, Tsuda T
    Clinical heterogeneity in dysferlinopathy
    Intern Med 2002, 41(7):532-536
  • Urtizberea JA, Bassez G, Leturcq F, Nguyen K, Krahn M, Levy N
    Dysferlinopathies
    Neurol India 2008, 56(3):289-297
  • Zhao Z, Hu J, Sakiyama Y, Okamoto Y, Higuchi I, Li N, Shen H, Takashima H.
    DYSF mutation analysis in a group of Chinese patients with dysferlinopathy
    Clin Neurol Neurosurg. 2012 Dec 14

Animal models

  • Bansal D, Miyake K, Vogel SS, Groh S, Chen CC, Williamson R, McNeil PL, Campbell KP
    Defective membrane repair in dysferlin-deficient muscular dystrophy
    Nature 2003, 423(6936):168-172
  • Bittner RE, Anderson LV, Burkhardt E, Bashir R, Vafiadaki E, Ivanova S, Raffelsberger T, Maerk I, Hoger H, Jung M et al
    Dysferlin deletion in SJL mice (SJL-Dysf) defines a natural model for limb girdle muscular dystrophy 2B
    Nat Genet 1999, 23(2):141-142
  • Han R, Rader EP, Levy JR, Bansal D, Campbell KP.
    Dystrophin deficiency exacerbates skeletal muscle pathology in dysferlin-null mice
    Skelet Muscle. 2011 Dec 1;1(1):35
  • Ho M, Post CM, Donahue LR, Lidov HG, Bronson RT, Goolsby H, Watkins SC, Cox GA, Brown RH, Jr.
    Disruption of muscle membrane and phenotype divergence in two novel mouse models of dysferlin deficiency
    Human molecular genetics 2004, 13(18):1999-2010
  • Hornsey MA, Laval SH, Barresi R, Lochmüller H, Bushby K.
    Muscular dystrophy in dysferlin-deficient mouse models
    Neuromuscul Disord. 2013 May;23(5):377-87. doi: 10.1016/j.nmd.2013.02.004. Epub 2013 Mar 7.
  • Katie K. Maguire, Leland Lim, Sedona Speedy and Thomas A. Rando
    Assessment of disease activity in muscular dystrophies by noninvasive imaging
    J Clin Invest 2013
  • Kawahara G, Serafini PR, Myers JA, Alexander MS, Kunkel LM
    Characterization of zebrafish dysferlin by morphilio knockdown
    Biochem Biophiys Res Commun. 2011 Sept 23; 413(2):358-63
  • Kobayashi K, Izawa T, Kuwamura M, Yamate J.
    Comparative gene expression analysis in the skeletal muscles of dysferlin-deficient SJL/J and A/J mice
    J Toxicol Pathol. 2011 Mar;24(1):49-62
  • Roche JA, Ru LW, Bloch RJ
    Distinct effects of contraction-induced injury in vivo on four different murine models of dysferlinopathy
    J Biomed Biotechnol. 2012; 2012:134031.
  • Roostalu U. Strahle U.
    In vivo imaging of molecular interactions at damaged sarcolemma
    Dev Cell 2012 Mar 13;22(3)515-29
  • Suzuki N, Aoki M, Hinuma Y, Takahashi T, Onodera Y, Ishigaki A, Kato M, Warita H, Tateyama M, Itoyama Y
    Expression profiling with progression of dystrophic change in dysferlin-deficient mice (SJL)
    Neurosci Res 2005, 52(1):47-60
  • Vainzof M, Ayub-Guerrieri D, Onofre PC, Martins PC, Lopes VF, Zilberztajn D, Maia LS, Sell K, Yamamoto LU
    Animal models for genetic neuromuscular diseases
    J Mol Neurosci 2008, 34(3):241-248
  • von der Hagen M, Laval SH, Cree LM, Haldane F, Pocock M, Wappler I, Peters H, Reitsamer HA, Hoger H, Wiedner M et al
    The differential gene expression profiles of proximal and distal muscle groups are altered in pre-pathological dysferlin-deficient mice
    Neuromuscul Disord 2005, 15(12):863-877
  • Weller AH, Magliato SA, Bell KP, Rosenberg NL
    Spontaneous myopathy in the SJL/J mouse: pathology and strength loss
    Muscle & nerve 1997, 20(1):72-82
  • Willmann R, Possekel S, Dubach-Powell J, Meier T, Ruegg MA
    Mammalian animal models for Duchenne muscular dystrophy
    Neuromuscular disorders : NMD 2009, 19(4):241-249

Other resources

  • Huang Y, Verheesen P, Roussis A, Frankhuizen W, Ginjaar I, Haldane F, Laval S, Anderson LV, Verrips T, Frants RR et al
    Protein studies in dysferlinopathy patients using llama-derived antibody fragments selected by phage display
    Eur J Hum Genet 2005, 13(6):721-730
  • Humphrey GW, Mekhedov E, Blank PS, de Morree A, Pekkurnaz G, Nagaraju K, Zimmerberg J.
    GREG cells, a dysferlin-deficient myogenic mouse cell line
    Exp Cell Res. 2012 Jan 15;318(2): 127-35
  • Phillipi S, Bigot A, Marg A, mouly V, Spuler S, Zacharias U.
    Dysferlin-deficient immortalized human myoblasts and myotubes as a useful tool to study dysferlinopathy
    Version 2 PLoS Curr. 2012 Feb 2 [revised 2012 Feb 28]; 4; RRN1298
  • Wein N, Krahn M, Courrier S, Bartoli M, Salort-Campana E, Nguyen K, Fernandez C, Pouget J, Fossat C, Depetris D et al
    Immunolabelling and flow cytometry as new tools to explore dysferlinopathies
    Neuromuscul Disord 2010, 20(1):57-60
  • Zhao P, Zu L, Ait-Mou Y, de Tombe PP, Han R.
    Equal force recovery in dysferlin-deficient and wild type muscles following saponin exposure
    J Biomed Biotechnol. 2011;2011:235216

Antioxidants and ROS

  • Allen DG, Gervasio OL, Yeung EW, Whitehead NP
    Calcium and the damage pathways in muscular dystrophy
    Can J Physiol Pharmacol 2010, 88(2):83-91
  • Allen DG, Whitehead NP
    Duchenne muscular dystrophy--what causes the increased membrane permeability in skeletal muscle?
    Int J Biochem Cell Biol 2011, 43(3):290-294
  • Backman E, Nylander E, Johansson I, Henriksson KG, Tagesson C
    Selenium and vitamin E treatment of Duchenne muscular dystrophy: no effect on muscle function
    Acta neurologica Scandinavica 1988, 78(5):429-435
  • Burr IM, Asayama K, Fenichel GM
    Superoxide dismutases, glutathione peroxidase, and catalase in neuromuscular disease
    Muscle & nerve 1987, 10(2):150-154
  • Chahbouni M, Escames G, Venegas C, Sevilla B, Garcia JA, Lopez LC, Munoz-Hoyos A, Molina-Carballo A, Acuna-Castroviejo D
    Melatonin treatment normalizes plasma pro-inflammatory cytokines and nitrosative/oxidative stress in patients suffering from Duchenne muscular dystrophy
    J Pineal Res 2010, 48(3):282-289
  • Clark IA
    Proposed treatment of Duchenne muscular dystrophy with desferrioxamine
    Med Hypotheses 1984, 13(2):153-160
  • Dorchies OM, Wagner S, Buetler TM, Ruegg UT
    Protection of dystrophic muscle cells with polyphenols from green tea correlates with improved glutathione balance and increased expression of 67LR, a receptor for (-)-epigallocatechin gallate
    Biofactors 2009, 35(3):279-294
  • Faist V, Konig J, Hoger H, Elmadfa I
    Decreased mitochondrial oxygen consumption and antioxidant enzyme activities in skeletal muscle of dystrophic mice after low-intensity exercise
    Ann Nutr Metab 2001, 45(2):58-66
  • Haycock JW, Jones P, Harris JB, Mantle D
    Differential susceptibility of human skeletal muscle proteins to free radical induced oxidative damage: a histochemical, immunocytochemical and electron microscopical study in vitro
    Acta neuropathologica 1996, 92(4):331-340
  • Haycock JW, MacNeil S, Jones P, Harris JB, Mantle D
    Oxidative damage to muscle protein in Duchenne muscular dystrophy
    Neuroreport 1996, 8(1):357-361
  • Hibaoui Y, Reutenauer-Patte J, Patthey-Vuadens O, Ruegg UT, Dorchies OM
    Melatonin improves muscle function of the dystrophic mdx(5Cv) mouse, a model for Duchenne muscular dystrophy
    J Pineal Res 2011
  • Hunter MI, Mohamed JB
    Plasma antioxidants and lipid peroxidation products in Duchenne muscular dystrophy
    Clinica chimica acta; international journal of clinical chemistry 1986, 155(2):123-131
  • Jung C, Martins AS, Niggli E, Shirokova N
    Dystrophic cardiomyopathy: amplification of cellular damage by Ca2+ signalling and reactive oxygen species-generating pathways
    Cardiovasc Res 2008, 77(4):766-773
  • Lawler JM
    Exacerbation of Pathology by Oxidative Stress in Respiratory and Locomotor Muscles in Duchenne Muscular Dystrophy
    J Physiol 2011
  • Mechler F, Imre S, Dioszeghy P
    Lipid peroxidation and superoxide dismutase activity in muscle and erythrocytes in Duchenne muscular dystrophy
    Journal of the neurological sciences 1984, 63(3):279-283
  • Menazza S, Blaauw B, Tiepolo T, Toniolo L, Braghetta P, Spolaore B, Reggiani C, Di Lisa F, Bonaldo P, Canton M
    Oxidative stress by monoamine oxidases is causally involved in myofiber damage in muscular dystrophy
    Human molecular genetics 2010, 19(21):4207-4215
  • Messina S, Bitto A, Aguennouz M, Mazzeo A, Migliorato A, Polito F, Irrera N, Altavilla D, Vita GL, Russo M et al
    Flavocoxid counteracts muscle necrosis and improves functional properties in mdx mice: a comparison study with methylprednisolone
    Exp Neurol 2009, 220(2):349-358
  • Niebroj-Dobosz I, Hausmanowa-Petrusewicz I
    The involvement of oxidative stress in determining the severity and progress of pathological processes in dystrophin-deficient muscles
    Acta Biochim Pol 2005, 52(2):449-452
  • Selsby JT
    Increased catalase expression improves muscle function in mdx mice
    Exp Physiol 2011, 96(2):194-202
  • Sheu SS, Wang W, Cheng H, Dirksen RT
    Superoxide flashes: illuminating new insights into cardiac ischemia/reperfusion injury
    Future Cardiol 2008, 4(6):551-554
  • Shkryl VM, Martins AS, Ullrich ND, Nowycky MC, Niggli E, Shirokova
    Reciprocal amplification of ROS and Ca(2+) signals in stressed mdx dystrophic skeletal muscle fibers
    Pflugers Arch 2009, 458(5):915-928
  • Terrill JR, Radley-Crabb HG, Iwasaki T, Lemckert FA, Arthur PG, Grounds MD.
    Oxidative stress and pathology in muscular dystrophies: focus on protein thiol oxidation and dysferlinopathies
    FEBS J. 2013 Jan 19. doi: 10.1111/febs.12142.
  • Tidball JG, Wehling-Henricks M
    The role of free radicals in the pathophysiology of muscular dystrophy
    Journal of applied physiology 2007, 102(4):1677-1686
  • Vercherat C, Chung TK, Yalcin S, Gulbagci N, Gopinadhan S, Ghaffari S, Taneja R
    Stra13 regulates oxidative stress mediated skeletal muscle degeneration
    Human molecular genetics 2009, 18(22):4304-4316
  • Whitehead NP, Pham C, Gervasio OL, Allen DG
    N-Acetylcysteine ameliorates skeletal muscle pathophysiology in mdx mice
    J Physiol 2008, 586(7):2003-2014
  • Whitehead NP, Yeung EW, Allen DG
    Muscle damage in mdx (dystrophic) mice: role of calcium and reactive oxygen species
    Clin Exp Pharmacol Physiol 2006, 33(7):657-662
  • Williams IA, Allen DG
    The role of reactive oxygen species in the hearts of dystrophin-deficient mdx mice
    Am J Physiol Heart Circ Physiol 2007, 293(3):H1969-1977

Cell death inhibition

  • Girgenrath M, Dominov JA, Kostek CA, Miller JB
    Inhibition of apoptosis improves outcome in a model of congenital muscular dystrophy
    The Journal of clinical investigation 2004, 114(11):1635-1639
  • Messina S, Bitto A, Aguennouz M, Mazzeo A, Migliorato A, Polito F, Irrera N, Altavilla D, Vita GL, Russo M et al
    Flavocoxid counteracts muscle necrosis and improves functional properties in mdx mice: a comparison study with methylprednisolone
    Exp Neurol 2009, 220(2):349-358
  • Millay DP, Sargent MA, Osinska H, Baines CP, Barton ER, Vuagniaux G, Sweeney HL, Robbins J, Molkentin JD
    Genetic and pharmacologic inhibition of mitochondrial-dependent necrosis attenuates muscular dystrophy
    Nat Med 2008, 14(4):442-447
  • Pines M, Halevy O
    Halofuginone and muscular dystrophy
    Histol Histopathol 2011, 26(1):135-146
  • Reutenauer J, Dorchies OM, Patthey-Vuadens O, Vuagniaux G, Ruegg UT
    Investigation of Debio 025, a cyclophilin inhibitor, in the dystrophic mdx mouse, a model for Duchenne muscular dystrophy
    Br J Pharmacol 2008, 155(4):574-584
  • Sarma S, Li N, van Oort RJ, Reynolds C, Skapura DG, Wehrens XH
    Genetic inhibition of PKA phosphorylation of RyR2 prevents dystrophic cardiomyopathy
    Proceedings of the National Academy of Sciences of the United States of America 2010, 107(29):13165-13170
  • Selsby J, Pendrak K, Zadel M, Tian Z, Pham J, Carver T, Acosta P, Barton E, Sweeney HL
    Leupeptin-based inhibitors do not improve the mdx phenotype
    Am J Physiol Regul Integr Comp Physiol 2010, 299(5):R1192-1201
  • Sklar RM, Brown RH, Jr.
    Methylprednisolone increases dystrophin levels by inhibiting myotube death during myogenesis of normal human muscle in vitro
    Journal of the neurological sciences 1991, 101(1):73-81
  • Spencer MJ, Mellgren RL
    Overexpression of a calpastatin transgene in mdx muscle reduces dystrophic pathology
    Human molecular genetics 2002, 11(21):2645-2655
  • Waters FJ, Shavlakadze T, McIldowie MJ, Piggott MJ, Grounds MD
    Use of pifithrin to inhibit p53-mediated signalling of TNF in dystrophic muscles of mdx mice
    Mol Cell Biochem 2010, 337(1-2):119-131

Drug screening

  • Giacomotto J, Pertl C, Borrel C, Walter MC, Bulst S, Johnsen B, Baillie DL, Lochmuller H, Thirion C, Segalat L
    Evaluation of the therapeutic potential of carbonic anhydrase inhibitors in two animal models of dystrophin deficient muscular dystrophy
    Human molecular genetics 2009, 18(21):4089-4101
  • Granchelli JA, Pollina C, Hudecki MS
    Pre-clinical screening of drugs using the mdx mouse
    Neuromuscular disorders : NMD 2000, 10(4-5):235-239
  • Kawahara G, Karpf JA, Myers JA, Alexander MS, Guyon JR, Kunkel LM
    Drug screening in a zebrafish model of Duchenne muscular dystrophy
    Proceedings of the National Academy of Sciences of the United States of America 2011, 108(13):5331-5336
  • Khurana TS, Davies KE
    Pharmacological strategies for muscular dystrophy
    Nat Rev Drug Discov 2003, 2(5):379-390
  • Rayavarapu S, Van der Meulen JH, Gordish-Dressman H, Hoffman EP, Nagaraju K, Knoblach SM
    Characterization of dysferlin deficient SJL/J mice to assess preclinical drug efficacy: fasudil exacerbates muscle disease phenotype
    PLoS One 2010, 5(9):e12981
  • Vandenburgh H, Shansky J, Benesch-Lee F, Skelly K, Spinazzola JM, Saponjian Y, Tseng BS
    Automated drug screening with contractile muscle tissue engineered from dystrophic myoblasts
    The FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2009, 23(10):3325-3334

Dysferlinomics

  • Anderson LV, Harrison RM, Pogue R, Vafiadaki E, Pollitt C, Davison K, Moss JA, Keers S, Pyle A, Shaw PJ et al
    Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies)
    Neuromuscul Disord 2000, 10(8):553-559
  • Assereto S, Mastrototaro M, Stringara S, Gazzerro E, Broda P, Nicchia GP, Svelto M, Bruno C, Nigro V, Lisanti MP et al
    Aquaporin-4 expression is severely reduced in human sarcoglycanopathies and dysferlinopathies
    Cell Cycle 2008, 7(14):2199-2207
  • Azakir BA, Di Fulvio S, Therrien C, Sinnreich M
    Dysferlin interacts with tubulin and microtubules in mouse skeletal muscle
    PLoS One 2010, 5(4):e10122
  • Cacciottolo M, Belcastro V, Laval S, Bushby K, di Bernardo D, Nigro V
    Reverse engineering gene network identifies new dysferlin-interacting proteins
    J Biol Chem 2011, 286(7):5404-5413
  • Campanaro S, Romualdi C, Fanin M, Celegato B, Pacchioni B, Trevisan S, Laveder P, De Pitta C, Pegoraro E, Hayashi YK et al
    Gene expression profiling in dysferlinopathies using a dedicated muscle microarray
    Hum Mol Genet 2002, 11(26):3283-3298
  • De la Torre C, Illa I, Faulkner G, Soria L, Robles-Cedeno R, Dominguez-Perles R, De Luna N, Gallardo E
    Proteomics identification of differentially expressed proteins in the muscle of dysferlin myopathy patients
    Proteomics Clin Appl 2009, 3(4):486-497
  • de Morree A, Hensbergen PJ, van Haagen HH, Dragan I, Deelder AM, t Hoen PA, Frants RR, van der Maarel SM
    Proteomic analysis of the dysferlin protein complex unveils its importance for sarcolemmal maintenance and integrity
    PLoS One 2010, 5(11):e13854
  • De Palma S, Morandi L, Mariani E, Begum S, Cerretelli P, Wait R, Gelfi C
    Proteomic investigation of the molecular pathophysiology of dysferlinopathy
    Proteomics 2006, 6(1):379-385
  • Demonbreun AR, Fahrenbach JP, Deveaux K, Earley JU, Pytel P, McNally EM
    Impaired muscle growth and response to insulin-like growth factor 1 in dysferlin-mediated muscular dystrophy
    Hum Mol Genet 2011, 20(4):779-789
  • Evesson FJ, Peat RA, Lek A, Brilot F, Lo HP, Dale RC, Parton RG, North KN, Cooper ST
    Reduced plasma membrane expression of dysferlin mutants is attributed to accelerated endocytosis via a syntaxin-4-associated pathway
    J Biol Chem 2010, 285(37):28529-28539
  • Huang Y, de Morree A, van Remoortere A, Bushby K, Frants RR, Dunnen JT, van der Maarel SM
    Calpain 3 is a modulator of the dysferlin protein complex in skeletal muscle
    Hum Mol Genet 2008, 17(12):1855-1866
  • Huang Y, Laval SH, van Remoortere A, Baudier J, Benaud C, Anderson LV, Straub V, Deelder A, Frants RR, den Dunnen JT et al
    AHNAK, a novel component of the dysferlin protein complex, redistributes to the cytoplasm with dysferlin during skeletal muscle regeneration
    FASEB J 2007, 21(3):732-742
  • Kesari A, Fukuda M, Knoblach S, Bashir R, Nader GA, Rao D, Nagaraju K, Hoffman EP
    Dysferlin deficiency shows compensatory induction of Rab27A/Slp2a that may contribute to inflammatory onset
    Am J Pathol 2008, 173(5):1476-1487
  • Lek A, Lek M, North KN, Cooper ST
    Phylogenetic analysis of ferlin genes reveals ancient eukaryotic origins
    BMC Evol Biol 2010, 10:231
  • Lennon NJ, Kho A, Bacskai BJ, Perlmutter SL, Hyman BT, Brown RH, Jr.
    Dysferlin interacts with annexins A1 and A2 and mediates sarcolemmal wound-healing
    J Biol Chem 2003, 278(50):50466-50473
  • Leung C, Utokaparch S, Sharma A, Yu C, Abraham T, Borchers C, Bernatchez P.
    Protenomic identification of dysferlin-interacting protein complexes in human vascular endothelium
    Biochem Biophys Res Commun 2011 Nov 18;415(2);263-9
  • Matsuda C, Kameyama K, Tagawa K, Ogawa M, Suzuki A, Yamaji S, Okamoto H, Nishino I, Hayashi YK
    Dysferlin interacts with affixin (beta-parvin) at the sarcolemma
    J Neuropathol Exp Neurol 2005, 64(4):334-340
  • Rezvanpour A, Shaw GS
    Unique S100 target protein interactions
    Gen Physiol Biophys 2009, 28 Spec No Focus:F39-46
  • Suzuki N, Aoki M, Hinuma Y, Takahashi T, Onodera Y, Ishigaki A, Kato M, Warita H, Tateyama M, Itoyama Y
    Expression profiling with progression of dystrophic change in dysferlin-deficient mice (SJL)
    Neurosci Res 2005, 52(1):47-60
  • van Haagen HH, t Hoen PA, de Morree A, van Roon-Mom WM, Peters DJ, Roos M, Mons B, van Ommen GJ, Schuemie MJ
    In silico discovery and experimental validation of new protein-protein interactions
    Proteomics 2011, 11(5):843-853
  • von der Hagen M, Laval SH, Cree LM, Haldane F, Pocock M, Wappler I, Peters H, Reitsamer HA, Hoger H, Wiedner M et al
    The differential gene expression profiles of proximal and distal muscle groups are altered in pre-pathological dysferlin-deficient mice
    Neuromuscul Disord 2005, 15(12):863-877
  • Walter MC, Reilich P, Thiele S, Schessl J, Schreiber H, Reiners K, Kress W, Müller-Reible C, Vorgerd M, Urban P, Schrank B, Deschauer M, Schlotter-Weigel B, Kohnen R, Lochmüller H.
    Treatment of dysferlinopathy with deflazacort: a double-blind, placebo-controlled clinical trial.
    Orphanet J Rare Dis. 2013 Feb 14;8:26. doi: 10.1186/1750-1172-8-26.

Exon skipping

  • Aartsma-Rus A, Bremmer-Bout M, Janson AA, den Dunnen JT, van Ommen GJ, van Deutekom JC
    Targeted exon skipping as a potential gene correction therapy for Duchenne muscular dystrophy
    Neuromuscular disorders : NMD 2002, 12 Suppl 1:S71-77
  • Aartsma-Rus A, Janson AA, van Ommen GJ, van Deutekom JC
    Antisense-induced exon skipping for duplications in Duchenne muscular dystrophy
    BMC Med Genet 2007, 8:43
  • Aartsma-Rus A, Kaman WE, Weij R, den Dunnen JT, van Ommen GJ, van Deutekom JC
    Exploring the frontiers of therapeutic exon skipping for Duchenne muscular dystrophy by double targeting within one or multiple exons
    Mol Ther 2006, 14(3):401-407
  • Aartsma-Rus A, Singh KH, Fokkema IF, Ginjaar IB, van Ommen GJ, den Dunnen JT, van der Maarel SM
    Therapeutic exon skipping for dysferlinopathies?
    Eur J Hum Genet 2010, 18(8):889-894
  • Aartsma-Rus A, van Ommen GJ
    Less is more: therapeutic exon skipping for Duchenne muscular dystrophy
    Lancet Neurol 2009, 8(10):873-875
  • Bauer R, Katus HA, Muller OJ
    Exon skipping with morpholino oligomers: new treatment option for cardiomyopathy in Duchenne muscular dystrophy?
    Cardiovasc Res 2010, 85(3):409-410
  • Bertoni C
    Clinical approaches in the treatment of Duchenne muscular dystrophy (DMD) using oligonucleotides
    Front Biosci 2008, 13:517-527
  • Goyenvalle A, Vulin A, Fougerousse F, Leturcq F, Kaplan JC, Garcia L, Danos O
    [An opening in Duchenne muscular dystrophy: persistent therapeutic rescue of dystrophin by vectorized antisense mediated exon skipping in mdx mice]
    Med Sci (Paris) 2004, 20(12):1163-1165
  • Heemskerk HA, de Winter CL, de Kimpe SJ, van Kuik-Romeijn P, Heuvelmans N, Platenburg GJ, van Ommen GJ, van Deutekom JC, Aartsma-Rus A
    In vivo comparison of 2'-O-methyl phosphorothioate and morpholino antisense oligonucleotides for Duchenne muscular dystrophy exon skipping
    J Gene Med 2009, 11(3):257-266
  • Helderman-van den Enden AT, Straathof CS, Aartsma-Rus A, den Dunnen JT, Verbist BM, Bakker E, Verschuuren JJ, Ginjaar HB
    Becker muscular dystrophy patients with deletions around exon 51; a promising outlook for exon skipping therapy in Duchenne patients
    Neuromuscular disorders : NMD 2010, 20(4):251-254
  • Levy N, Wein N, Barthelemy F, Mouly V, Garcia L, Krahn M, Bartoli M
    Therapeutic exon 'switching' for dysferlinopathies?
    European journal of human genetics : EJHG 2010, 18(9):969-970; author reply 971
  • Lu QL, Yokota T, Takeda S, Garcia L, Muntoni F, Partridge T
    The status of exon skipping as a therapeutic approach to duchenne muscular dystrophy
    Mol Ther 2011, 19(1):9-15
  • Matsuo M
    Duchenne and Becker muscular dystrophy: from gene diagnosis to molecular therapy
    IUBMB Life 2002, 53(3):147-152
  • Matsuo M, Takeshima Y
    [Mutation-specific treatments for Duchenne muscular dystrophy]
    Brain and nerve = Shinkei kenkyu no shinpo 2009, 61(8):915-922
  • McClorey G, Fletcher S, Wilton S
    Splicing intervention for Duchenne muscular dystrophy
    Curr Opin Pharmacol 2005, 5(5):529-534
  • Meregalli M, Farini A, Torrente Y
    Combining stem cells and exon skipping strategy to treat muscular dystrophy
    Expert Opin Biol Ther 2008, 8(8):1051-1061
  • Nakamura A, Takeda S
    Exon-skipping therapy for Duchenne muscular dystrophy
    Neuropathology : official journal of the Japanese Society of Neuropathology 2009, 29(4):494-501
  • Platenburg G
    Exon skipping, a therapy for Duchenne muscular dystrophy. Interview by Guenter Scheuerbrandt
    Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology / edited by the Gaetano Conte Academy for the study of striated muscle diseases 2008, 27:69-73
  • Rando TA
    Non-viral gene therapy for Duchenne muscular dystrophy: progress and challenges
    Biochimica et biophysica acta 2007, 1772(2):263-271
  • Santos R, Oliveira J, Vieira E, Coelho T, Carneiro AL, Evangelista T, Dias C, Fortuna A, Geraldo A, Negrao L et al
    Private dysferlin exon skipping mutation (c.5492G>A) with a founder effect reveals further alternative splicing involving exons 49-51
    J Hum Genet 2010, 55(8):546-549
  • Takeda S
    [Exon skipping therapy for Duchenne muscular dystrophy by using antisense Morpholino]
    Rinsho shinkeigaku = Clinical neurology 2009, 49(11):856-858
  • Takeshima Y, Yagi M, Wada H, Ishibashi K, Nishiyama A, Kakumoto M, Sakaeda T, Saura R, Okumura K, Matsuo M
    Intravenous infusion of an antisense oligonucleotide results in exon skipping in muscle dystrophin mRNA of Duchenne muscular dystrophy
    Pediatr Res 2006, 59(5):690-694
  • Vaillend C, Perronnet C, Ros C, Gruszczynski C, Goyenvalle A, Laroche S, Danos O, Garcia L, Peltekian E
    Rescue of a dystrophin-like protein by exon skipping in vivo restores GABAA-receptor clustering in the hippocampus of the mdx mouse
    Mol Ther 2010, 18(9):1683-1688
  • van Vliet L, de Winter CL, van Deutekom JC, van Ommen GJ, Aartsma-Rus A
    Assessment of the feasibility of exon 45-55 multiexon skipping for Duchenne muscular dystrophy
    BMC Med Genet 2008, 9:105
  • Wang Q, Yin H, Camelliti P, Betts C, Moulton H, Lee H, Saleh AF, Gait MJ, Wood MJ
    In vitro evaluation of novel antisense oligonucleotides is predictive of in vivo exon skipping activity for Duchenne muscular dystrophy
    J Gene Med 2010, 12(4):354-364
  • Wein N, Avril A, Bartoli M, Beley C, Chaouch S, Laforet P, Behin A, Butler-Browne G, Mouly V, Krahn M et al
    Efficient bypass of mutations in dysferlin deficient patient cells by antisense-induced exon skipping
    Hum Mutat 2010, 31(2):136-142
  • Wilton SD, Fletcher S
    Exon skipping and Duchenne muscular dystrophy: hope, hype and how feasible?
    Neurology India 2008, 56(3):254-262
  • Yokota T, Pistilli E, Duddy W, Nagaraju K
    Potential of oligonucleotide-mediated exon-skipping therapy for Duchenne muscular dystrophy
    Expert Opin Biol Ther 2007, 7(6):831-842

Gene therapy

  • Allamand V, Donahue KM, Straub V, Davisson RL, Davidson BL, Campbell KP
    Early adenovirus-mediated gene transfer effectively prevents muscular dystrophy in alpha-sarcoglycan-deficient mice
    Gene Ther 2000, 7(16):1385-1391
  • Arruda VR
    The role of immunosuppression in gene- and cell-based treatments for duchenne muscular dystrophy
    Mol Ther 2007, 15(6):1040-1041
  • Athanasopoulos T, Graham IR, Foster H, Dickson G
    Recombinant adeno-associated viral (rAAV) vectors as therapeutic tools for Duchenne muscular dystrophy (DMD)
    Gene Ther 2004, 11 Suppl 1:S109-121
  • Azakir BA, Di Fulvio S, Kinter J, Sinnreich M.
    Proteasomal inhibition restores biological function of mis-sense mutated dysferlin in patient-derived muscle cells
    J Biol Chem 2012 Mar 23;287(13):10344-54
  • Bartoli M, Roudaut C, Martin S, Fougerousse F, Suel L, Poupiot J, Gicquel E, Noulet F, Danos O, Richard I
    Safety and efficacy of AAV-mediated calpain 3 gene transfer in a mouse model of limb-girdle muscular dystrophy type 2A
    Mol Ther 2006, 13(2):250-259
  • Blankinship MJ, Gregorevic P, Chamberlain JS
    Gene therapy strategies for Duchenne muscular dystrophy utilizing recombinant adeno-associated virus vectors
    Mol Ther 2006, 13(2):241-249
  • Colussi C, Gaetano C, Capogrossi MC
    AAV-dependent targeting of myostatin function: follistatin strikes back at muscular dystrophy
    Gene Ther 2008, 15(15):1075-1076
  • Cossu G, Sampaolesi M
    New therapies for muscular dystrophy: cautious optimism
    Trends in molecular medicine 2004, 10(10):516-520
  • Duan D
    From the smallest virus to the biggest gene: marching towards gene therapy for duchenne muscular dystrophy
    Discov Med 2006, 6(33):103-108
  • Ebihara S, Guibinga GH, Gilbert R, Nalbantoglu J, Massie B, Karpati G, Petrof BJ
    Differential effects of dystrophin and utrophin gene transfer in immunocompetent muscular dystrophy (mdx) mice
    Physiological genomics 2000, 3(3):133-144
  • Goncalves MA, Holkers M, Cudre-Mauroux C, van Nierop GP, Knaan-Shanzer S, van der Velde I, Valerio D, de Vries AA
    Transduction of myogenic cells by retargeted dual high-capacity hybrid viral vectors: robust dystrophin synthesis in duchenne muscular dystrophy muscle cells
    Mol Ther 2006, 13(5):976-986
  • Gregory LG, Waddington SN, Holder MV, Mitrophanous KA, Buckley SM, Mosley KL, Bigger BW, Ellard FM, Walmsley LE, Lawrence L et al
    Highly efficient EIAV-mediated in utero gene transfer and expression in the major muscle groups affected by Duchenne muscular dystrophy
    Gene Ther 2004, 11(14):1117-1125
  • Herzog RW, Arruda VR
    Substantial immune suppression required in gene therapy for muscular dystrophy?
    Neuromuscular disorders : NMD 2008, 18(1):83-84
  • Judge LM, Chamberlain JS
    Gene therapy for Duchenne muscular dystrophy: AAV leads the way
    Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology / edited by the Gaetano Conte Academy for the study of striated muscle diseases 2005, 24(3):184-193
  • Karpati G, Acsadi G
    The potential for gene therapy in Duchenne muscular dystrophy and other genetic muscle diseases
    Muscle & nerve 1993, 16(11):1141-1153
  • Kimura E, Han JJ, Li S, Fall B, Ra J, Haraguchi M, Tapscott SJ, Chamberlain JS
    Cell-lineage regulated myogenesis for dystrophin replacement: a novel therapeutic approach for treatment of muscular dystrophy
    Human molecular genetics 2008, 17(16):2507-2517
  • Krahn M, Wein N, Bartoli M, Lostal W, Courrier S, Bourg-Alibert N, Nguyen K, Vial C, Streichenberger N, Labelle V et al
    A naturally occurring human minidysferlin protein repairs sarcolemmal lesions in a mouse model of dysferlinopathy
    Science translational medicine 2010, 2(50):50ra69
  • Lai Y, Li D, Yue Y, Duan D
    Design of trans-splicing adeno-associated viral vectors for Duchenne muscular dystrophy gene therapy
    Methods Mol Biol 2008, 433:259-275
  • Li J, Dressman D, Tsao YP, Sakamoto A, Hoffman EP, Xiao X
    rAAV vector-mediated sarcogylcan gene transfer in a hamster model for limb girdle muscular dystrophy
    Gene Ther 1999, 6(1):74-82
  • Lorain S, Gross DA, Goyenvalle A, Danos O, Davoust J, Garcia L
    Transient immunomodulation allows repeated injections of AAV1 and correction of muscular dystrophy in multiple muscles
    Mol Ther 2008, 16(3):541-547
  • Lostal W, Bartoli M, Bourg N, Roudaut C, Bentaib A, Miyake K, Guerchet N, Fougerousse F, McNeil P, Richard I
    Efficient recovery of dysferlin deficiency by dual adeno-associated vector-mediated gene transfer
    Human molecular genetics 2010, 19(10):1897-1907
  • Mendell JR, Clark KR
    Challenges for gene therapy for muscular dystrophy
    Curr Neurol Neurosci Rep 2006, 6(1):47-56
  • Mendell JR, Rodino-Klapac LR, Rosales XQ, Coley BD, Galloway G, Lewis S, Malik V, Shilling C, Byrne BJ, Conlon T et al
    Sustained alpha-sarcoglycan gene expression after gene transfer in limb-girdle muscular dystrophy, type 2D
    Annals of neurology 2010, 68(5):629-638
  • Mendell JR, Rodino-Klapac LR, Rosales-Quintero X, Kota J, Coley BD, Galloway G, Craenen JM, Lewis S, Malik V, Shilling C et al
    Limb-girdle muscular dystrophy type 2D gene therapy restores alpha-sarcoglycan and associated proteins
    Annals of neurology 2009, 66(3):290-297
  • Roberts M, Dickson G
    The future of Duchenne muscular dystrophy gene therapy: shrinking the dystrophin gene
    Curr Opin Mol Ther 2002, 4(4):343-348
  • Rodino-Klapac LR, Chicoine LG, Kaspar BK, Mendell JR
    Gene therapy for duchenne muscular dystrophy: expectations and challenges
    Archives of neurology 2007, 64(9):1236-1241
  • Rodino-Klapac LR, Janssen PM, Montgomery CL, Coley BD, Chicoine LG, Clark KR, Mendell JR
    A translational approach for limb vascular delivery of the micro-dystrophin gene without high volume or high pressure for treatment of Duchenne muscular dystrophy
    J Transl Med 2007, 5:45
  • Scime A, Rudnicki MA
    Molecular-targeted therapy for Duchenne muscular dystrophy: progress and potential
    Mol Diagn Ther 2008, 12(2):99-108
  • Tang Y, Cummins J, Huard J, Wang B
    AAV-directed muscular dystrophy gene therapy
    Opin Biol Ther 2010, 10(3):395-408
  • Vitiello C, Faraso S, Sorrentino NC, Di Salvo G, Nusco E, Nigro G, Cutillo L, Calabro R, Auricchio A, Nigro V
    Disease rescue and increased lifespan in a model of cardiomyopathy and muscular dystrophy by combined AAV treatments
    PLoS One 2009, 4(3):e5051
  • Wang Z, Kuhr CS, Allen JM, Blankinship M, Gregorevic P, Chamberlain JS, Tapscott SJ, Storb R
    Sustained AAV-mediated dystrophin expression in a canine model of Duchenne muscular dystrophy with a brief course of immunosuppression
    Mol Ther 2007, 15(6):1160-1166
  • Wells DJ, Ferrer A, Wells KE
    Immunological hurdles in the path to gene therapy for Duchenne muscular dystrophy
    Expert Rev Mol Med 2002, 4(23):1-23
  • Zhang G, Ludtke JJ, Thioudellet C, Kleinpeter P, Antoniou M, Herweijer H, Braun S, Wolff JA
    Intraarterial delivery of naked plasmid DNA expressing full-length mouse dystrophin in the mdx mouse model of duchenne muscular dystrophy
    Hum Gene Ther 2004, 15(8):770-782

General reviews

Immune response

  • Brunn A, Schroder R, Deckert M
    The inflammatory reaction pattern distinguishes primary dysferlinopathies from idiopathic inflammatory myopathies: an important role for the membrane attack complex
    Acta neuropathologica 2006, 112(3):325-332
  • Confalonieri P, Oliva L, Andreetta F, Lorenzoni R, Dassi P, Mariani E, Morandi L, Mora M, Cornelio F, Mantegazza R
    Muscle inflammation and MHC class I up-regulation in muscular dystrophy with lack of dysferlin: an immunopathological study
    J Neuroimmunol 2003, 142(1-2):130-136
  • de Morree A, Flix B, Bagaric I, Wang J, van den Boogaard M, Grand Moursel L, Frants RR, Illa I, Gallardo E, Toes R, van der Maarel SM.
    Dysferlin regulates cell adhesion in human monocytes
    J Biol Chem. 2013 Apr 4.
  • Farini A, Sitzia C, Navarro C, D’Antonia G, Belicchi M, Parolini D, Del Fraro G, Razini P, Bottinelli R, Meregalli M, Torrente Y.
    Absence of T and B lymphocytes modulates dystrophic features in dysferlin deficient animal model.
    Exp cell res. 2012. Mar 23. [Epub ahead of print]
  • Halevy O, Genin O, Barzilai-Tutsch H, Pima Y, Levi O, Moshe I, Pines M.
    Inhibition of muscle fibrosis and improvement of muscle histopathology in dysferlin knock-out mice treated with halofuginone
    Histol Histopathol. 2013 Feb;28(2):211-26.
  • Han R, Frett EM, Levy JR, Rader EP, Lueck JD, Bansal D, Moore SA, Ng R, Beltran-Valero de Bernabe D, Faulkner JA et al
    Genetic ablation of complement C3 attenuates muscle pathology in dysferlin-deficient mice
    J Clin Invest 2010, 120(12):4366-4374
  • Hochmeister S, Bittner RE, Hoger H, Lassmann H, Bradl M
    The susceptibility to experimental autoimmune encephalomyelitis is not related to dysferlin-deficiency
    Autoimmunity 2009, 42(3):235-241
  • Kesari A, Fukuda M, Knoblach S, Bashir R, Nader GA, Rao D, Nagaraju K, Hoffman EP
    Dysferlin deficiency shows compensatory induction of Rab27A/Slp2a that may contribute to inflammatory onset
    Am J Pathol 2008, 173(5):1476-1487
  • Mariano A, Henning A, Han R.
    Dysferlin-deficient muscular dystrophy and innate immune activation
    FEBS J. 2013 Mar 25. doi: 10.1111/febs.12261. [Epub ahead of print]
  • McNally EM, Ly CT, Rosenmann H, Mitrani Rosenbaum S, Jiang W, Anderson LV, Soffer D, Argov Z
    Splicing mutation in dysferlin produces limb-girdle muscular dystrophy with inflammation
    Am J Med Genet 2000, 91(4):305-312
  • Nagaraju K, Rawat R, Veszelovszky E, Thapliyal R, Kesari A, Sparks S, Raben N, Plotz P, Hoffman EP
    Dysferlin deficiency enhances monocyte phagocytosis: a model for the inflammatory onset of limb-girdle muscular dystrophy 2B
    Am J Pathol 2008, 172(3):774-785
  • Nemoto H, Konno S, Nakazora H, Miura H, Kurihara T
    Histological and immunohistological changes of the skeletal muscles in older SJL/J mice
    Eur Neurol 2007, 57(1):19-25
  • Nemoto H, Konno S, Sugimoto H, Nakazora H, Nomoto N, Murata M, Kitazono H, Fujioka T
    Anti-TNF therapy using etanercept suppresses degenerative and inflammatory changes in skeletal muscle of older SJL/J mice
    Exp Mol Pathol 2011, 90(3):264-270
  • Prelle A, Sciacco M, Tancredi L, Fagiolari G, Comi GP, Ciscato P, Serafini M, Fortunato F, Zecca C, Gallanti A et al
    Clinical, morphological and immunological evaluation of six patients with dysferlin deficiency
    Acta Neuropathol 2003, 105(6):537-542
  • Rawat R, Cohen TV, Ampong B, Francia D, Henriques-Pons A, Hoffman EP, Nagaraju K
    Inflammasome up-regulation and activation in dysferlin-deficient skeletal muscle
    Am J Pathol 2010, 176(6):2891-2900
  • Selva-O'Callaghan A, Labrador-Horrillo M, Gallardo E, Herruzo A, Grau-Junyent JM, Vilardell-Tarres M
    Muscle inflammation, autoimmune Addison's disease and sarcoidosis in a patient with dysferlin deficiency
    Neuromuscul Disord 2006, 16(3):208-209
  • Villalta SA, Nguyen HX, Deng B, Gotoh T, Tidball JG
    Shifts in macrophage phenotypes and macrophage competition for arginine metabolism affect the severity of muscle pathology in muscular dystrophy
    Human molecular genetics 2009, 18(3):482-496

Membrane repair

  • Bansal D, Campbell KP
    Dysferlin and the plasma membrane repair in muscular dystrophy
    Trends Cell Biol 2004, 14(4):206-213
  • Bansal D, Miyake K, Vogel SS, Groh S, Chen CC, Williamson R, McNeil PL, Campbell KP
    Defective membrane repair in dysferlin-deficient muscular dystrophy
    Nature 2003, 423(6936):168-172
  • Cacciottolo M, Belcastro V, Laval S, Bushby K, di Bernardo D, Nigro V
    Reverse engineering gene network identifies new dysferlin-interacting proteins
    J Biol Chem 2011, 286(7):5404-5413
  • Cai C, Masumiya H, Weisleder N, Matsuda N, Nishi M, Hwang M, Ko JK, Lin P, Thornton A, Zhao X et al
    MG53 nucleates assembly of cell membrane repair machinery
    Nat Cell Biol 2009, 11(1):56-64
  • Cai C, Weisleder N, Ko JK, Komazaki S, Sunada Y, Nishi M, Takeshima H, Ma J
    Membrane repair defects in muscular dystrophy are linked to altered interaction between MG53, caveolin-3, and dysferlin
    The Journal of biological chemistry 2009, 284(23):15894-15902
  • Cenacchi G, Fanin M, De Giorgi LB, Angelini C
    Ultrastructural changes in dysferlinopathy support defective membrane repair mechanism
    J Clin Pathol 2005, 58(2):190-195
  • Chiu YH, Hornsey MA, Klinge L, Jorgensen LH, Laval SH, Charlton R, Barresi R, Straub V, Lochmuller H, Bushby K
    Attenuated muscle regeneration is a key factor in dysferlin-deficient muscular dystrophy
    Hum Mol Genet 2009, 18(11):1976-1989
  • Covian-Nares JF, Koushik SV, Puhl HL, 3rd, Vogel SS
    Membrane wounding triggers ATP release and dysferlin-mediated intercellular calcium signaling
    J Cell Sci 2010, 123(Pt 11):1884-1893
  • Davis DB, Doherty KR, Delmonte AJ, McNally EM
    Calcium-sensitive phospholipid binding properties of normal and mutant ferlin C2 domains
    J Biol Chem 2002, 277(25):22883-22888
  • Doherty KR, McNally EM
    Repairing the tears: dysferlin in muscle membrane repair
    Trends Mol Med 2003, 9(8):327-330
  • Glover L, Brown RH, Jr.
    Dysferlin in membrane trafficking and patch repair
    Traffic 2007, 8(7):785-794
  • Han R, Bansal D, Miyake K, Muniz VP, Weiss RM, McNeil PL, Campbell KP
    Dysferlin-mediated membrane repair protects the heart from stress-induced left ventricular injury
    J Clin Invest 2007, 117(7):1805-1813
  • Han R, Campbell KP
    Dysferlin and muscle membrane repair
    Curr Opin Cell Biol 2007, 19(4):409-416
  • Jaiswal JK, Marlow G, Summerill G, Mahjneh I, Mueller S, Hill M, Miyake K, Haase H, Anderson LV, Richard I et al
    Patients with a non-dysferlin Miyoshi myopathy have a novel membrane repair defect
    Traffic 2007, 8(1):77-88
  • Klinge L, Laval S, Keers S, Haldane F, Straub V, Barresi R, Bushby K
    From T-tubule to sarcolemma: damage-induced dysferlin translocation in early myogenesis
    FASEB J 2007, 21(8):1768-1776
  • Krahn M, Wein N, Bartoli M, Lostal W, Courrier S, Bourg-Alibert N, Nguyen K, Vial C, Streichenberger N, Labelle V et al
    A naturally occurring human minidysferlin protein repairs sarcolemmal lesions in a mouse model of dysferlinopathy
    Science translational medicine 2010, 2(50):50ra69
  • Lammerding J, Lee RT
    Torn apart: membrane rupture in muscular dystrophies and associated cardiomyopathies
    J Clin Invest 2007, 117(7):1749-1752
  • Lek A, Evesson FJ, Lemckert FA, Redpath GM, Lueders AK, Turnbull L, Whitchurch CB, North KN, Cooper ST.
    Calpains, cleaved mini-dysferlinC72, and L-type channels underpin calcium-dependent muscle membrane repair
    J Neurosci. 2013 Mar 20;33(12):5085-94. doi: 10.1523/JNEUROSCI.3560-12.2013
  • Lennon NJ, Kho A, Bacskai BJ, Perlmutter SL, Hyman BT, Brown RH, Jr.
    Dysferlin interacts with annexins A1 and A2 and mediates sarcolemmal wound-healing
    J Biol Chem 2003, 278(50):50466-50473
  • Lostal W, Bartoli M, Bourg N, Roudaut C, Bentaib A, Miyake K, Guerchet N, Fougerousse F, McNeil P, Richard I
    Efficient recovery of dysferlin deficiency by dual adeno-associated vector-mediated gene transfer
    Human molecular genetics 2010, 19(10):1897-1907
  • Roche JA, Lovering RM, Bloch RJ
    Impaired recovery of dysferlin-null skeletal muscle after contraction-induced injury in vivo
    Neuroreport 2008, 19(16):1579-1584
  • Schapire AL, Valpuesta V, Botella MA
    Plasma membrane repair in plants
    Trends Plant Sci 2009, 14(12):645-652
  • Sharma A, Yu C, Leung C, Trane A, Lau M, Utokaparch S, Shaheen F, Sheibani N, Bernatchez P
    A new role for the muscle repair protein dysferlin in endothelial cell adhesion and angiogenesis
    Arterioscler Thromb Vasc Biol 2010, 30(11):2196-2204
  • Suzuki N, Akiyama T, Takahashi T, Komuro H, Warita H, Taeyama M, Itoyama Y, Aoki M.
    Continuous administration of poloxamer 188 reduces overload-induced muscular atrophy in dysferlin-deficient SJL mice.
    Neurosci Res. 2012 Feb;72(2):181-6
  • Waddell LB, Lemckert FA, Zheng XF, Tran J, Evesson FJ, Hawkes JM, Lek A, Street NE, Lin P, Clarke NF et al
    Dysferlin, Annexin A1, and Mitsugumin 53 Are Upregulated in Muscular Dystrophy and Localize to Longitudinal Tubules of the T-System With Stretch
    Journal of neuropathology and experimental neurology 2011, 70(4):302-313

Membrane stabilization

  • Ng R, Metzger JM, Claflin DR, Faulkner JA
    Poloxamer 188 reduces the contraction-induced force decline in lumbrical muscles from mdx mice
    American journal of physiology Cell physiology 2008, 295(1):C146-150
  • Townsend D, Turner I, Yasuda S, Martindale J, Davis J, Shillingford M, Kornegay JN, Metzger JM
    Chronic administration of membrane sealant prevents severe cardiac injury and ventricular dilatation in dystrophic dogs
    The Journal of clinical investigation 2010, 120(4):1140-1150
  • Townsend D, Yasuda S, Metzger J
    Cardiomyopathy of Duchenne muscular dystrophy: pathogenesis and prospect of membrane sealants as a new therapeutic approach
    Expert Rev Cardiovasc Ther 2007, 5(1):99-109

Muscle regeneration

  • Biondi O, Villemeur M, Marchand A, Chretien F, Bourg N, Gherardi RK, Richard I, Authier FJ.
    Dual Effects of Exercise in Dysferlinopathy
    Am J Pathol. 2013 Apr 24. pii: S0002-9440(13)00252-6. doi: 10.1016/j.ajpath.2013.02.045. [Epub ahead of print]
  • Chiu YH, Hornsey MA, Klinge L, Jorgensen LH, Laval SH, Charlton R, Barresi R, Straub V, Lochmuller H, Bushby K
    Attenuated muscle regeneration is a key factor in dysferlin-deficient muscular dystrophy
    Hum Mol Genet 2009, 18(11):1976-1989
  • Huang Y, Laval SH, van Remoortere A, Baudier J, Benaud C, Anderson LV, Straub V, Deelder A, Frants RR, den Dunnen JT et al
    AHNAK, a novel component of the dysferlin protein complex, redistributes to the cytoplasm with dysferlin during skeletal muscle regeneration
    FASEB J 2007, 21(3):732-742
  • Lee SJ
    Extracellular Regulation of Myostatin: A Molecular Rheostat for Muscle Mass
    Immunol Endocr Metab Agents Med Chem 2010, 10:183-194
  • Lee SJ
    Quadrupling muscle mass in mice by targeting TGF-beta signaling pathways
    PLoS One 2007, 2(8):e789
  • Lee SJ, Lee YS, Zimmers TA, Soleimani A, Matzuk MM, Tsuchida K, Cohn RD, Barton ER
    Regulation of muscle mass by follistatin and activins
    Mol Endocrinol 2010, 24(10):1998-2008
  • Lee SJ, McPherron AC
    Regulation of myostatin activity and muscle growth
    Proceedings of the National Academy of Sciences of the United States of America 2001, 98(16):9306-9311
  • Lee SJ, Reed LA, Davies MV, Girgenrath S, Goad ME, Tomkinson KN, Wright JF, Barker C, Ehrmantraut G, Holmstrom J et al
    Regulation of muscle growth by multiple ligands signaling through activin type II receptors
    Proceedings of the National Academy of Sciences of the United States of America 2005, 102(50):18117-18122
  • Morine KJ, Bish LT, Selsby JT, Gazzara JA, Pendrak K, Sleeper MM, Barton ER, Lee SJ, Sweeney HL
    Activin IIB receptor blockade attenuates dystrophic pathology in a mouse model of Duchenne muscular dystrophy
    Muscle & nerve 2010, 42(5):722-730
  • Wagner KR, McPherron AC, Winik N, Lee SJ
    Loss of myostatin attenuates severity of muscular dystrophy in mdx mice
    Annals of neurology 2002, 52(6):832-836

Read-through approaches

Stem cells

  • Farini A, Razini P, Erratico S, Torrente Y, Meregalli M
    Cell based therapy for Duchenne muscular dystrophy
    J Cell Physiol 2009, 221(3):526-534
  • Ferrari G, Mavilio F
    Myogenic stem cells from the bone marrow: a therapeutic alternative for muscular dystrophy?
    Neuromuscular disorders : NMD 2002, 12 Suppl 1:S7-10
  • Goncalves MA, de Vries AA, Holkers M, van de Watering MJ, van der Velde I, van Nierop GP, Valerio D, Knaan-Shanzer S
    Human mesenchymal stem cells ectopically expressing full-length dystrophin can complement Duchenne muscular dystrophy myotubes by cell fusion
    Human molecular genetics 2006, 15(2):213-221
  • Keravala A, Ormerod BK, Palmer TD, Calos MP
    Long-term transgene expression in mouse neural progenitor cells modified with phiC31 integrase
    J Neurosci Methods 2008, 173(2):299-305
  • Kong KY, Ren J, Kraus M, Finklestein SP, Brown RH, Jr.
    Human umbilical cord blood cells differentiate into muscle in sjl muscular dystrophy mice
    Stem Cells 2004, 22(6):981-993
  • Leriche-Guerin K, Anderson LV, Wrogemann K, Roy B, Goulet M, Tremblay JP
    Dysferlin expression after normal myoblast transplantation in SCID and in SJL mice
    Neuromuscul Disord 2002, 12(2):167-173
  • Li S, Kimura E, Ng R, Fall BM, Meuse L, Reyes M, Faulkner JA, Chamberlain JS
    A highly functional mini-dystrophin/GFP fusion gene for cell and gene therapy studies of Duchenne muscular dystrophy
    Human molecular genetics 2006, 15(10):1610-1622
  • Markert CD, Atala A, Cann JK, Christ G, Furth M, Ambrosio F, Childers MK
    Mesenchymal stem cells: emerging therapy for Duchenne muscular dystrophy
    Pm R 2009, 1(6):547-559
  • Meregalli M, Farini A, Parolini D, Maciotta S, Torrente Y
    Stem cell therapies to treat muscular dystrophy: progress to date
    BioDrugs 2010, 24(4):237-247
  • Meregalli M, Farini A, Torrente Y
    Combining stem cells and exon skipping strategy to treat muscular dystrophy
    Expert Opin Biol Ther 2008, 8(8):1051-1061
  • Mizuno Y, Chang H, Umeda K, Niwa A, Iwasa T, Awaya T, Fukada S, Yamamoto H, Yamanaka S, Nakahata T et al
    Generation of skeletal muscle stem/progenitor cells from murine induced pluripotent stem cells
    The FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2010, 24(7):2245-2253
  • Morgan JE, Partridge TA
    Cell transplantation and gene therapy in muscular dystrophy
    Bioessays 1992, 14(9):641-645
  • Park IH
    DYS-HAC-iPS cells: the combination of gene and cell therapy to treat duchenne muscular dystrophy
    Mol Ther 2010, 18(2):238-240
  • Tanaka A, Woltjen K, Miyake K, Hotta A, Ikeya M, Yamamoto T, Nishino T, Shoji E, Sehara-Fujisawa A, Manabe Y, Fujii N, Hanaoka K, Era T, Yamashita S, Isobe K, Kimura E, Sakurai H.
    Efficient and Reproducible Myogenic Differentiation from Human iPS Cells: Prospects for Modeling Miyoshi Myopathy In Vitro
    PLoS One. 2013 Apr 23;8(4):e61540. doi: 10.1371/journal.pone.0061540. Print 2013
  • Vieira NM, Zucconi E, Bueno CR, Jr., Secco M, Suzuki MF, Bartolini P, Vainzof M, Zatz M
    Human multipotent mesenchymal stromal cells from distinct sources show different in vivo potential to differentiate into muscle cells when injected in dystrophic mice
    Stem Cell Rev 2010, 6(4):560-566