Publications

Dysferlin function

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

http://www.ncbi.nlm.nih.gov/pubmed/21119217
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

http://www.ncbi.nlm.nih.gov/pubmed/20558759
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

http://www.ncbi.nlm.nih.gov/pubmed/20724702
Lek A, Lek M, North KN, Cooper ST

Phylogenetic analysis of ferlin genes reveals ancient eukaryotic origins

BMC Evol Biol 2010, 10:231

http://www.ncbi.nlm.nih.gov/pubmed/20667140
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

http://www.ncbi.nlm.nih.gov/pubmed/20861509
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

http://www.ncbi.nlm.nih.gov/pubmed/21079765
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

http://www.ncbi.nlm.nih.gov/pubmed/20442251
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

http://www.ncbi.nlm.nih.gov/pubmed/19755517
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

http://www.ncbi.nlm.nih.gov/pubmed/19875504
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

http://www.ncbi.nlm.nih.gov/pubmed/19380584
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

http://www.ncbi.nlm.nih.gov/pubmed/18815587
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

http://www.ncbi.nlm.nih.gov/pubmed/18276788
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

http://www.ncbi.nlm.nih.gov/pubmed/17692124
Glover L, Brown RH, Jr.

Dysferlin in membrane trafficking and patch repair

Traffic 2007, 8(7):785-794

http://www.ncbi.nlm.nih.gov/pubmed/17547707
Bansal D, Campbell KP

Dysferlin and the plasma membrane repair in muscular dystrophy

Trends Cell Biol 2004, 14(4):206-213

http://www.ncbi.nlm.nih.gov/pubmed/15066638
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

http://www.ncbi.nlm.nih.gov/pubmed/12736685
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

http://www.ncbi.nlm.nih.gov/pubmed/11959863
Selcen D, Stilling G, Engel AG

The earliest pathologic alterations in dysferlinopathy

Neurology 2001, 56(11):1472-1481

http://www.ncbi.nlm.nih.gov/pubmed/11402103

Dysferlin structure

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

http://www.ncbi.nlm.nih.gov/pubmed/20417099
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

http://www.ncbi.nlm.nih.gov/pubmed/20405035
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

http://www.ncbi.nlm.nih.gov/pubmed/20145676
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

http://www.ncbi.nlm.nih.gov/pubmed/19253956
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

http://www.ncbi.nlm.nih.gov/pubmed/18495154
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

http://www.ncbi.nlm.nih.gov/pubmed/11959863
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

http://www.ncbi.nlm.nih.gov/pubmed/11731489
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

http://www.ncbi.nlm.nih.gov/pubmed/22110769

Localization

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

http://www.ncbi.nlm.nih.gov/pubmed/21412170.
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

http://www.ncbi.nlm.nih.gov/pubmed/20595382
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

http://www.ncbi.nlm.nih.gov/pubmed/21079765
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

http://www.ncbi.nlm.nih.gov/pubmed/18094040
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

http://www.ncbi.nlm.nih.gov/pubmed/18096699
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

http://www.ncbi.nlm.nih.gov/pubmed/17363620
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

http://www.ncbi.nlm.nih.gov/pubmed/17185750
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

http://www.ncbi.nlm.nih.gov/pubmed/16319126
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

http://www.ncbi.nlm.nih.gov/pubmed/15835269
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

http://www.ncbi.nlm.nih.gov/pubmed/16550931
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

http://www.ncbi.nlm.nih.gov/pubmed/12664320
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

http://www.ncbi.nlm.nih.gov/pubmed/11532985
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

http://www.ncbi.nlm.nih.gov/pubmed/10196375
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

http://www.ncbi.nlm.nih.gov/pubmed/22349696
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

http://www.ncbi.nlm.nih.gov/pubmed/22043020

Clinical Reviews

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

http://www.ncbi.nlm.nih.gov/pubmed/20574037
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

http://www.ncbi.nlm.nih.gov/pubmed/20544924
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

http://www.ncbi.nlm.nih.gov/pubmed/18853459
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

http://www.ncbi.nlm.nih.gov/pubmed/19154541
Urtizberea JA, Bassez G, Leturcq F, Nguyen K, Krahn M, Levy N

Dysferlinopathies

Neurol India 2008, 56(3):289-297

http://www.ncbi.nlm.nih.gov/pubmed/18974555
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

http://www.ncbi.nlm.nih.gov/pubmed/17132147
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

http://www.ncbi.nlm.nih.gov/pubmed/16010686
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

http://www.ncbi.nlm.nih.gov/pubmed/16312142
Ueyama H, Kumamoto T, Horinouchi H, Fujimoto S, Aono H, Tsuda T

Clinical heterogeneity in dysferlinopathy

Intern Med 2002, 41(7):532-536

http://www.ncbi.nlm.nih.gov/pubmed/12132520
Selcen D, Stilling G, Engel AG

The earliest pathologic alterations in dysferlinopathy

Neurology 2001, 56(11):1472-1481

http://www.ncbi.nlm.nih.gov/pubmed/11402103
Tsao CY, Mendell JR

The childhood muscular dystrophies: making order out of chaos

Semin Neurol 1999, 19(1):9-23

http://www.ncbi.nlm.nih.gov/pubmed/10711985
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

http://www.ncbi.nlm.nih.gov/pubmed/10496277
Bushby KM

Making sense of the limb-girdle muscular dystrophies

Brain 1999, 122 ( Pt 8):1403-1420

http://www.ncbi.nlm.nih.gov/pubmed/10430828
Aoki M

Dysferlinopathy

1993

http://www.ncbi.nlm.nih.gov/pubmed/20301480
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

http://www.ncbi.nlm.nih.gov/pubmed/22106716
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

http://www.ncbi.nlm.nih.gov/pubmed/21522182
Amato AA, Brown RH Jr.

Dysferlinopathies

Handb Clin Neurol. 2011;101-111-8

http://www.ncbi.nlm.nih.gov/pubmed/21496627

Animal models

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

http://www.ncbi.nlm.nih.gov/pubmed/19217290
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

http://www.ncbi.nlm.nih.gov/pubmed/18202836
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

http://www.ncbi.nlm.nih.gov/pubmed/16288871
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

http://www.ncbi.nlm.nih.gov/pubmed/15811552
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

http://www.ncbi.nlm.nih.gov/pubmed/15254015
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

http://www.ncbi.nlm.nih.gov/pubmed/12736685
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

http://www.ncbi.nlm.nih.gov/pubmed/10508505
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

http://www.ncbi.nlm.nih.gov/pubmed/8995586
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.

http://www.ncbi.nlm.nih.gov/pubmed/22431915
Roostalu U. Strahle U.

In vivo imaging of molecular interactions at damaged sarcolemma

Dev Cell 2012 Mar 13;22(3)515-29

http://www.ncbi.nlm.nih.gov/pubmed/22421042
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

http://www.ncbi.nlm.nih.gov/pubmed/22272044
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

http://www.ncbi.nlm.nih.gov/pubmed/22132688
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

http://www.ncbi.nlm.nih.gov/pubmed/21893049

Other resources

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

http://www.ncbi.nlm.nih.gov/pubmed/19854055
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

http://www.ncbi.nlm.nih.gov/pubmed/15827562
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

http://www.ncbi.nlm.nih.gov/pubmed/22367358.2
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

http://www.ncbi.nlm.nih.gov/pubmed/22020321
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

http://www.ncbi.nlm.nih.gov/pubmed/21941430

Antioxidants and ROS

Selsby JT

Increased catalase expression improves muscle function in mdx mice

Exp Physiol 2011, 96(2):194-202

http://www.ncbi.nlm.nih.gov/pubmed/21041317
Lawler JM

Exacerbation of Pathology by Oxidative Stress in Respiratory and Locomotor Muscles in Duchenne Muscular Dystrophy

J Physiol 2011

http://www.ncbi.nlm.nih.gov/pubmed/21486793
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

http://www.ncbi.nlm.nih.gov/pubmed/21486366
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

http://www.ncbi.nlm.nih.gov/pubmed/21084059
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

http://www.ncbi.nlm.nih.gov/pubmed/20210854
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

http://www.ncbi.nlm.nih.gov/pubmed/20716577
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

http://www.ncbi.nlm.nih.gov/pubmed/20237582
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

http://www.ncbi.nlm.nih.gov/pubmed/19679564
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

http://www.ncbi.nlm.nih.gov/pubmed/19387681
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

http://www.ncbi.nlm.nih.gov/pubmed/19786019
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

http://www.ncbi.nlm.nih.gov/pubmed/19322813
Whitehead NP, Pham C, Gervasio OL, Allen DG

N-Acetylcysteine ameliorates skeletal muscle pathophysiology in mdx mice

J Physiol 2008, 586(7):2003-2014

http://www.ncbi.nlm.nih.gov/pubmed/18258657
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

http://www.ncbi.nlm.nih.gov/pubmed/19649173
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

http://www.ncbi.nlm.nih.gov/pubmed/18056762
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

http://www.ncbi.nlm.nih.gov/pubmed/17573457
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

http://www.ncbi.nlm.nih.gov/pubmed/17095633
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

http://www.ncbi.nlm.nih.gov/pubmed/16789936
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

http://www.ncbi.nlm.nih.gov/pubmed/15990924
Faist V, Konig J, Hoger H, Elmadfa I

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Cell death inhibition

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Halofuginone and muscular dystrophy

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Use of pifithrin to inhibit p53-mediated signalling of TNF in dystrophic muscles of mdx mice

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Leupeptin-based inhibitors do not improve the mdx phenotype

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Genetic inhibition of PKA phosphorylation of RyR2 prevents dystrophic cardiomyopathy

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Flavocoxid counteracts muscle necrosis and improves functional properties in mdx mice: a comparison study with methylprednisolone

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Drug screening

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Drug screening in a zebrafish model of Duchenne muscular dystrophy

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Characterization of dysferlin deficient SJL/J mice to assess preclinical drug efficacy: fasudil exacerbates muscle disease phenotype

PLoS One 2010, 5(9):e12981

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Automated drug screening with contractile muscle tissue engineered from dystrophic myoblasts

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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

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Khurana TS, Davies KE

Pharmacological strategies for muscular dystrophy

Nat Rev Drug Discov 2003, 2(5):379-390

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Granchelli JA, Pollina C, Hudecki MS

Pre-clinical screening of drugs using the mdx mouse

Neuromuscular disorders : NMD 2000, 10(4-5):235-239

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Dysferlinomics

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In silico discovery and experimental validation of new protein-protein interactions

Proteomics 2011, 11(5):843-853

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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

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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

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Lek A, Lek M, North KN, Cooper ST

Phylogenetic analysis of ferlin genes reveals ancient eukaryotic origins

BMC Evol Biol 2010, 10:231

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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

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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

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Dysferlin interacts with tubulin and microtubules in mouse skeletal muscle

PLoS One 2010, 5(4):e10122

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Rezvanpour A, Shaw GS

Unique S100 target protein interactions

Gen Physiol Biophys 2009, 28 Spec No Focus:F39-46

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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

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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

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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

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Aquaporin-4 expression is severely reduced in human sarcoglycanopathies and dysferlinopathies

Cell Cycle 2008, 7(14):2199-2207

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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

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De Palma S, Morandi L, Mariani E, Begum S, Cerretelli P, Wait R, Gelfi C

Proteomic investigation of the molecular pathophysiology of dysferlinopathy

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The differential gene expression profiles of proximal and distal muscle groups are altered in pre-pathological dysferlin-deficient mice

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Protenomic identification of dysferlin-interacting protein complexes in human vascular endothelium

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Exon skipping

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

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Efficient bypass of mutations in dysferlin deficient patient cells by antisense-induced exon skipping

Hum Mutat 2010, 31(2):136-142

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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

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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

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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

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Levy N, Wein N, Barthelemy F, Mouly V, Garcia L, Krahn M, Bartoli M

Therapeutic exon 'switching' for dysferlinopathies?

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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

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Bauer R, Katus HA, Muller OJ

Exon skipping with morpholino oligomers: new treatment option for cardiomyopathy in Duchenne muscular dystrophy?

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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

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Takeda S

[Exon skipping therapy for Duchenne muscular dystrophy by using antisense Morpholino]

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Nakamura A, Takeda S

Exon-skipping therapy for Duchenne muscular dystrophy

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Matsuo M, Takeshima Y

[Mutation-specific treatments for Duchenne muscular dystrophy]

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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

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Aartsma-Rus A, van Ommen GJ

Less is more: therapeutic exon skipping for Duchenne muscular dystrophy

Lancet Neurol 2009, 8(10):873-875

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Wilton SD, Fletcher S

Exon skipping and Duchenne muscular dystrophy: hope, hype and how feasible?

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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

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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

http://www.ncbi.nlm.nih.gov/pubmed/19364065
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

http://www.ncbi.nlm.nih.gov/pubmed/18613758
Bertoni C

Clinical approaches in the treatment of Duchenne muscular dystrophy (DMD) using oligonucleotides

Front Biosci 2008, 13:517-527

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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

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Rando TA

Non-viral gene therapy for Duchenne muscular dystrophy: progress and challenges

Biochimica et biophysica acta 2007, 1772(2):263-271

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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

http://www.ncbi.nlm.nih.gov/pubmed/17612397
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

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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

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McClorey G, Fletcher S, Wilton S

Splicing intervention for Duchenne muscular dystrophy

Curr Opin Pharmacol 2005, 5(5):529-534

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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]

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Matsuo M

Duchenne and Becker muscular dystrophy: from gene diagnosis to molecular therapy

IUBMB Life 2002, 53(3):147-152

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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

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Gene therapy

Tang Y, Cummins J, Huard J, Wang B

AAV-directed muscular dystrophy gene therapy

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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

http://www.ncbi.nlm.nih.gov/pubmed/21031578
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

http://www.ncbi.nlm.nih.gov/pubmed/20154340
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

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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

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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

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Scime A, Rudnicki MA

Molecular-targeted therapy for Duchenne muscular dystrophy: progress and potential

Mol Diagn Ther 2008, 12(2):99-108

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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

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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

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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

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Herzog RW, Arruda VR

Substantial immune suppression required in gene therapy for muscular dystrophy?

Neuromuscular disorders : NMD 2008, 18(1):83-84

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Colussi C, Gaetano C, Capogrossi MC

AAV-dependent targeting of myostatin function: follistatin strikes back at muscular dystrophy

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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

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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

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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

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Arruda VR

The role of immunosuppression in gene- and cell-based treatments for duchenne muscular dystrophy

Mol Ther 2007, 15(6):1040-1041

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Mendell JR, Clark KR

Challenges for gene therapy for muscular dystrophy

Curr Neurol Neurosci Rep 2006, 6(1):47-56

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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

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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

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Blankinship MJ, Gregorevic P, Chamberlain JS

Gene therapy strategies for Duchenne muscular dystrophy utilizing recombinant adeno-associated virus vectors

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Mesenchymal stem cells: emerging therapy for Duchenne muscular dystrophy

Pm R 2009, 1(6):547-559

http://www.ncbi.nlm.nih.gov/pubmed/19627945
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

http://www.ncbi.nlm.nih.gov/pubmed/19688776
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

http://www.ncbi.nlm.nih.gov/pubmed/18613758
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

http://www.ncbi.nlm.nih.gov/pubmed/18606184
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

http://www.ncbi.nlm.nih.gov/pubmed/16595609
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

http://www.ncbi.nlm.nih.gov/pubmed/16321987
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

http://www.ncbi.nlm.nih.gov/pubmed/15536189
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

http://www.ncbi.nlm.nih.gov/pubmed/11738359
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

http://www.ncbi.nlm.nih.gov/pubmed/12206789
Morgan JE, Partridge TA

Cell transplantation and gene therapy in muscular dystrophy

Bioessays 1992, 14(9):641-645

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