Publications
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Dysferlin function
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Dysferlin and the plasma membrane repair in muscular dystrophyTrends Cell Biol 2004, 14(4):206-213
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Defective membrane repair in dysferlin-deficient muscular dystrophyNature 2003, 423(6936):168-172
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A human skeletal muscle interactome centered on proteins involved in muscular dystrophies: LGMD interactomeSkelet Muscle. 2013 Feb 15;3(1):3. doi: 10.1186/2044-5040-3-3.
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Reverse engineering gene network identifies new dysferlin-interacting proteinsJ Biol Chem 2011, 286(7):5404-5413
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Membrane repair defects in muscular dystrophy are linked to altered interaction between MG53, caveolin-3, and dysferlinThe Journal of biological chemistry 2009, 284(23):15894-15902
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Dysferlin deficiency and the development of cardiomyopathy in a mouse model of limb-girdle muscular dystrophy 2BAm J Pathol 2009, 175(6):2299-2308
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Membrane wounding triggers ATP release and dysferlin-mediated intercellular calcium signalingJ Cell Sci 2010, 123(Pt 11):1884-1893
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Calcium-sensitive phospholipid binding properties of normal and mutant ferlin C2 domainsJ Biol Chem 2002, 277(25):22883-22888
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Proteomic analysis of the dysferlin protein complex unveils its importance for sarcolemmal maintenance and integrityPLoS One 2010, 5(11):e13854
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Dysferlin in membrane trafficking and patch repairTraffic 2007, 8(7):785-794
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Proteomic analysis of plasma membrane and secretory vesicles from human neutrophilsProteome Sci 2007, 5:12
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A naturally occurring human minidysferlin protein repairs sarcolemmal lesions in a mouse model of dysferlinopathyScience translational medicine 2010, 2(50):50ra69
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C. elegans dysferlin homolog fer-1 is expressed in muscle, and fer-1 mutations initiate altered gene expression of muscle enriched genesPhysiol Genomics 2009, 40(1):8-14
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Phylogenetic analysis of ferlin genes reveals ancient eukaryotic originsBMC Evol Biol 2010, 10:231
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Dysferlin deficiency enhances monocyte phagocytosis: a model for the inflammatory onset of limb-girdle muscular dystrophy 2BAm J Pathol 2008, 172(3):774-785
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Impaired recovery of dysferlin-null skeletal muscle after contraction-induced injury in vivoNeuroreport 2008, 19(16):1579-1584
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Dysferlin-peptides reallocate mutated dysferlin thereby restoring function.PLoS One. 2012;7(11):e49603
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The earliest pathologic alterations in dysferlinopathyNeurology 2001, 56(11):1472-1481
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A new role for the muscle repair protein dysferlin in endothelial cell adhesion and angiogenesisArterioscler Thromb Vasc Biol 2010, 30(11):2196-2204
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Membrane blebbing as an assessment of functional rescue of dysferlin-deficient human myotubes via nonsense suppressionJournal of applied physiology 2010, 109(3):901-905
Dysferlin structure
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Therapeutic exon skipping for dysferlinopathies?Eur J Hum Genet 2010, 18(8):889-894
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Dysferlin interacts with tubulin and microtubules in mouse skeletal musclePLoS One 2010, 5(4):e10122
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Calcium-sensitive phospholipid binding properties of normal and mutant ferlin C2 domainsJ Biol Chem 2002, 277(25):22883-22888
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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 familyNeuromuscul Disord 2010, 20(6):390-396
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The C2A domain in dysferlin is important for association with MG53 (TRIM72)PLoS Curr. 2012 Nov 5;4:e5035add8caff4.
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Solution structure of the inner DysF domain of myoferlin and implications for limb girdle muscular dystrophy type 2bJ Mol Biol 2008, 379(5):981-990
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Novel protein domains and repeats in Drosophila melanogaster: insights into structure, function, and evolutionGenome Res 2001, 11(12):1996-2008
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Characterization of lipid binding specificities of dysferlin C2 domains reveals novel interactions with phosphoinositidesBiochemistry 2009, 48(11):2377-2384
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Dysferlin forms a dimer mediated by the C2 domains and the transmembrane domain in vitro and in living cellsPLoS One. 2011;6(11):227884
Localization
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Intracellular localization of dysferlin and its association with the dihydropyridine receptorActa Myol 2005, 24(2):134-144
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Dysferlin is a plasma membrane protein and is expressed early in human developmentHum Mol Genet 1999, 8(5):855-861
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Proteomic analysis of the dysferlin protein complex unveils its importance for sarcolemmal maintenance and integrityPLoS One 2010, 5(11):e13854
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Reduced plasma membrane expression of dysferlin mutants is attributed to accelerated endocytosis via a syntaxin-4-associated pathwayJ Biol Chem 2010, 285(37):28529-28539
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Lysosome fusion to the cell membrane is mediated by the dysferlin C2A domain in coronary arterial endothelial cellsJ cell Sci 2012 Mar 1; 125(Pt 5); 1225-34
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Caveolin regulates endocytosis of the muscle repair protein, dysferlinJ Biol Chem 2008, 283(10):6476-6488
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Aberrant dysferlin trafficking in cells lacking caveolin or expressing dystrophy mutants of caveolin-3Hum Mol Genet 2006, 15(1):129-142
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AHNAK, a novel component of the dysferlin protein complex, redistributes to the cytoplasm with dysferlin during skeletal muscle regenerationFASEB J 2007, 21(3):732-742
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Dysferlin expression in tubular aggregates: their possible relationship to endoplasmic reticulum stressActa Neuropathol 2003, 105(6):603-609
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From T-tubule to sarcolemma: damage-induced dysferlin translocation in early myogenesisFASEB J 2007, 21(8):1768-1776
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The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscleHum Mol Genet 2001, 10(17):1761-1766
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Dysferlin interacts with affixin (beta-parvin) at the sarcolemmaJ Neuropathol Exp Neurol 2005, 64(4):334-340
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Unmasking potential intracellular roles for dysferlin through improved immunological labeling methodsJ Histochem Cytochem. 2011 Nov;59(11)96-75
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Dysferlin, Annexin A1, and Mitsugumin 53 Are Upregulated in Muscular Dystrophy and Localize to Longitudinal Tubules of the T-System With StretchJournal of neuropathology and experimental neurology 2011, 70(4):302-313
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Dysferlin domain-containing proteins, Pex30p and Pex31p, localized to two compartments, control the number and size of oleate-induced peroxisomes in Pichia pastorisMol Biol Cell 2008, 19(3):885-898
Clinical Reviews
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DysferlinopathiesHandb Clin Neurol. 2011;101-111-8
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Dysferlinopathy course and sportive activity: clues for possible treatmentActa Myol. 2011 Oct;30(2):127-32
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Dysferlinopathy1993
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Long-term MRI and clinical follow-up of symptomatic and presymptomatic carriers of dysferlin gene mutationsActa Myol 2005, 24(1):6-16
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Making sense of the limb-girdle muscular dystrophiesBrain 1999, 122 ( Pt 8):1403-1420
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Muscular dystrophy with marked dysferlin deficiency is consistently caused by primary dysferlin gene mutationsEur J Hum Genet. 2011 Sept; 19(9):974-80
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Patients with a non-dysferlin Miyoshi myopathy have a novel membrane repair defectTraffic 2007, 8(1):77-88
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Pattern of skeletal muscle involvement in primary dysferlinopathies: a whole-body 3.0-T magnetic resonance imaging studyActa Neurol Scand 2009, 120(2):111-118
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Analysis of the DYSF mutational spectrum in a large cohort of patientsHuman mutation 2009, 30(2):E345-375
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Long-term follow-up study on patients with Miyoshi phenotype of distal muscular dystrophyEur J Neurol. 2013 Mar 26. doi: 10.1111/ene.12129. [Epub ahead of print]
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1α,25(OH)(2)-Vitamin D3 increases dysferlin expression in vitro and in a human clinical trialMol Ther. 2012 Oct;20(10):1988-97.
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Dysferlin is a surface membrane-associated protein that is absent in Miyoshi myopathyNeurology 1999, 53(5):1119-1122
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Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathiesHum Mutat 2005, 26(2):165
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Dysferlin aggregation in limb-girdle muscular dystrophy type 2B/myoshi myopathy necessitates mutational screen for diagnosisMuscle Nerve. 2013 May;47(5):740-7. doi: 10.1002/mus.23666. Epub 2013 Mar 21.
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Redefining dysferlinopathy phenotypes based on clinical findings and muscle imaging studiesNeurology 2010, 75(4):316-323
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Novel diagnostic features of dysferlinopathiesMuscle Nerve 2010, 42(1):14-21
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The earliest pathologic alterations in dysferlinopathyNeurology 2001, 56(11):1472-1481
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Clinical features and a mutation with late onset of limb girdle muscular dystrophy 2BJ Neurol Neurosurg Psychiatry. 2013 Apr;84(4):433-40. doi: 10.1136/jnnp-2011-301339. Epub 2012 Dec 15.
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The childhood muscular dystrophies: making order out of chaosSemin Neurol 1999, 19(1):9-23
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Clinical heterogeneity in dysferlinopathyIntern Med 2002, 41(7):532-536
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DysferlinopathiesNeurol India 2008, 56(3):289-297
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DYSF mutation analysis in a group of Chinese patients with dysferlinopathyClin Neurol Neurosurg. 2012 Dec 14
Animal models
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Defective membrane repair in dysferlin-deficient muscular dystrophyNature 2003, 423(6936):168-172
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Dysferlin deletion in SJL mice (SJL-Dysf) defines a natural model for limb girdle muscular dystrophy 2BNat Genet 1999, 23(2):141-142
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Dystrophin deficiency exacerbates skeletal muscle pathology in dysferlin-null miceSkelet Muscle. 2011 Dec 1;1(1):35
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Disruption of muscle membrane and phenotype divergence in two novel mouse models of dysferlin deficiencyHuman molecular genetics 2004, 13(18):1999-2010
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Muscular dystrophy in dysferlin-deficient mouse modelsNeuromuscul Disord. 2013 May;23(5):377-87. doi: 10.1016/j.nmd.2013.02.004. Epub 2013 Mar 7.
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Assessment of disease activity in muscular dystrophies by noninvasive imagingJ Clin Invest 2013
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Characterization of zebrafish dysferlin by morphilio knockdownBiochem Biophiys Res Commun. 2011 Sept 23; 413(2):358-63
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Comparative gene expression analysis in the skeletal muscles of dysferlin-deficient SJL/J and A/J miceJ Toxicol Pathol. 2011 Mar;24(1):49-62
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Distinct effects of contraction-induced injury in vivo on four different murine models of dysferlinopathyJ Biomed Biotechnol. 2012; 2012:134031.
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In vivo imaging of molecular interactions at damaged sarcolemmaDev Cell 2012 Mar 13;22(3)515-29
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Expression profiling with progression of dystrophic change in dysferlin-deficient mice (SJL)Neurosci Res 2005, 52(1):47-60
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Animal models for genetic neuromuscular diseasesJ Mol Neurosci 2008, 34(3):241-248
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The differential gene expression profiles of proximal and distal muscle groups are altered in pre-pathological dysferlin-deficient miceNeuromuscul Disord 2005, 15(12):863-877
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Spontaneous myopathy in the SJL/J mouse: pathology and strength lossMuscle & nerve 1997, 20(1):72-82
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Mammalian animal models for Duchenne muscular dystrophyNeuromuscular disorders : NMD 2009, 19(4):241-249
Other resources
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Protein studies in dysferlinopathy patients using llama-derived antibody fragments selected by phage displayEur J Hum Genet 2005, 13(6):721-730
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GREG cells, a dysferlin-deficient myogenic mouse cell lineExp Cell Res. 2012 Jan 15;318(2): 127-35
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Dysferlin-deficient immortalized human myoblasts and myotubes as a useful tool to study dysferlinopathyVersion 2 PLoS Curr. 2012 Feb 2 [revised 2012 Feb 28]; 4; RRN1298
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Immunolabelling and flow cytometry as new tools to explore dysferlinopathiesNeuromuscul Disord 2010, 20(1):57-60
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Equal force recovery in dysferlin-deficient and wild type muscles following saponin exposureJ Biomed Biotechnol. 2011;2011:235216
Antioxidants and ROS
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Calcium and the damage pathways in muscular dystrophyCan J Physiol Pharmacol 2010, 88(2):83-91
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Duchenne muscular dystrophy--what causes the increased membrane permeability in skeletal muscle?Int J Biochem Cell Biol 2011, 43(3):290-294
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Selenium and vitamin E treatment of Duchenne muscular dystrophy: no effect on muscle functionActa neurologica Scandinavica 1988, 78(5):429-435
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Superoxide dismutases, glutathione peroxidase, and catalase in neuromuscular diseaseMuscle & nerve 1987, 10(2):150-154
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Melatonin treatment normalizes plasma pro-inflammatory cytokines and nitrosative/oxidative stress in patients suffering from Duchenne muscular dystrophyJ Pineal Res 2010, 48(3):282-289
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Proposed treatment of Duchenne muscular dystrophy with desferrioxamineMed Hypotheses 1984, 13(2):153-160
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Protection of dystrophic muscle cells with polyphenols from green tea correlates with improved glutathione balance and increased expression of 67LR, a receptor for (-)-epigallocatechin gallateBiofactors 2009, 35(3):279-294
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Decreased mitochondrial oxygen consumption and antioxidant enzyme activities in skeletal muscle of dystrophic mice after low-intensity exerciseAnn Nutr Metab 2001, 45(2):58-66
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Differential susceptibility of human skeletal muscle proteins to free radical induced oxidative damage: a histochemical, immunocytochemical and electron microscopical study in vitroActa neuropathologica 1996, 92(4):331-340
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Oxidative damage to muscle protein in Duchenne muscular dystrophyNeuroreport 1996, 8(1):357-361
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Melatonin improves muscle function of the dystrophic mdx(5Cv) mouse, a model for Duchenne muscular dystrophyJ Pineal Res 2011
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Plasma antioxidants and lipid peroxidation products in Duchenne muscular dystrophyClinica chimica acta; international journal of clinical chemistry 1986, 155(2):123-131
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Dystrophic cardiomyopathy: amplification of cellular damage by Ca2+ signalling and reactive oxygen species-generating pathwaysCardiovasc Res 2008, 77(4):766-773
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Exacerbation of Pathology by Oxidative Stress in Respiratory and Locomotor Muscles in Duchenne Muscular DystrophyJ Physiol 2011
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Lipid peroxidation and superoxide dismutase activity in muscle and erythrocytes in Duchenne muscular dystrophyJournal of the neurological sciences 1984, 63(3):279-283
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Oxidative stress by monoamine oxidases is causally involved in myofiber damage in muscular dystrophyHuman molecular genetics 2010, 19(21):4207-4215
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Flavocoxid counteracts muscle necrosis and improves functional properties in mdx mice: a comparison study with methylprednisoloneExp Neurol 2009, 220(2):349-358
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The involvement of oxidative stress in determining the severity and progress of pathological processes in dystrophin-deficient musclesActa Biochim Pol 2005, 52(2):449-452
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Increased catalase expression improves muscle function in mdx miceExp Physiol 2011, 96(2):194-202
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Superoxide flashes: illuminating new insights into cardiac ischemia/reperfusion injuryFuture Cardiol 2008, 4(6):551-554
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Reciprocal amplification of ROS and Ca(2+) signals in stressed mdx dystrophic skeletal muscle fibersPflugers Arch 2009, 458(5):915-928
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Oxidative stress and pathology in muscular dystrophies: focus on protein thiol oxidation and dysferlinopathiesFEBS J. 2013 Jan 19. doi: 10.1111/febs.12142.
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The role of free radicals in the pathophysiology of muscular dystrophyJournal of applied physiology 2007, 102(4):1677-1686
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Stra13 regulates oxidative stress mediated skeletal muscle degenerationHuman molecular genetics 2009, 18(22):4304-4316
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N-Acetylcysteine ameliorates skeletal muscle pathophysiology in mdx miceJ Physiol 2008, 586(7):2003-2014
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Muscle damage in mdx (dystrophic) mice: role of calcium and reactive oxygen speciesClin Exp Pharmacol Physiol 2006, 33(7):657-662
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The role of reactive oxygen species in the hearts of dystrophin-deficient mdx miceAm J Physiol Heart Circ Physiol 2007, 293(3):H1969-1977
Cell death inhibition
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Inhibition of apoptosis improves outcome in a model of congenital muscular dystrophyThe Journal of clinical investigation 2004, 114(11):1635-1639
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Flavocoxid counteracts muscle necrosis and improves functional properties in mdx mice: a comparison study with methylprednisoloneExp Neurol 2009, 220(2):349-358
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Genetic and pharmacologic inhibition of mitochondrial-dependent necrosis attenuates muscular dystrophyNat Med 2008, 14(4):442-447
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Halofuginone and muscular dystrophyHistol Histopathol 2011, 26(1):135-146
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Investigation of Debio 025, a cyclophilin inhibitor, in the dystrophic mdx mouse, a model for Duchenne muscular dystrophyBr J Pharmacol 2008, 155(4):574-584
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Genetic inhibition of PKA phosphorylation of RyR2 prevents dystrophic cardiomyopathyProceedings of the National Academy of Sciences of the United States of America 2010, 107(29):13165-13170
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Leupeptin-based inhibitors do not improve the mdx phenotypeAm J Physiol Regul Integr Comp Physiol 2010, 299(5):R1192-1201
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Methylprednisolone increases dystrophin levels by inhibiting myotube death during myogenesis of normal human muscle in vitroJournal of the neurological sciences 1991, 101(1):73-81
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Overexpression of a calpastatin transgene in mdx muscle reduces dystrophic pathologyHuman molecular genetics 2002, 11(21):2645-2655
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Use of pifithrin to inhibit p53-mediated signalling of TNF in dystrophic muscles of mdx miceMol Cell Biochem 2010, 337(1-2):119-131
Drug screening
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Evaluation of the therapeutic potential of carbonic anhydrase inhibitors in two animal models of dystrophin deficient muscular dystrophyHuman molecular genetics 2009, 18(21):4089-4101
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Pre-clinical screening of drugs using the mdx mouseNeuromuscular disorders : NMD 2000, 10(4-5):235-239
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Drug screening in a zebrafish model of Duchenne muscular dystrophyProceedings of the National Academy of Sciences of the United States of America 2011, 108(13):5331-5336
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Pharmacological strategies for muscular dystrophyNat Rev Drug Discov 2003, 2(5):379-390
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Characterization of dysferlin deficient SJL/J mice to assess preclinical drug efficacy: fasudil exacerbates muscle disease phenotypePLoS One 2010, 5(9):e12981
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Automated drug screening with contractile muscle tissue engineered from dystrophic myoblastsThe FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2009, 23(10):3325-3334
Dysferlinomics
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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
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Aquaporin-4 expression is severely reduced in human sarcoglycanopathies and dysferlinopathiesCell Cycle 2008, 7(14):2199-2207
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Dysferlin interacts with tubulin and microtubules in mouse skeletal musclePLoS One 2010, 5(4):e10122
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Reverse engineering gene network identifies new dysferlin-interacting proteinsJ Biol Chem 2011, 286(7):5404-5413
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Gene expression profiling in dysferlinopathies using a dedicated muscle microarrayHum Mol Genet 2002, 11(26):3283-3298
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Proteomics identification of differentially expressed proteins in the muscle of dysferlin myopathy patientsProteomics Clin Appl 2009, 3(4):486-497
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Proteomic analysis of the dysferlin protein complex unveils its importance for sarcolemmal maintenance and integrityPLoS One 2010, 5(11):e13854
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Proteomic investigation of the molecular pathophysiology of dysferlinopathyProteomics 2006, 6(1):379-385
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Impaired muscle growth and response to insulin-like growth factor 1 in dysferlin-mediated muscular dystrophyHum Mol Genet 2011, 20(4):779-789
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Reduced plasma membrane expression of dysferlin mutants is attributed to accelerated endocytosis via a syntaxin-4-associated pathwayJ Biol Chem 2010, 285(37):28529-28539
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Calpain 3 is a modulator of the dysferlin protein complex in skeletal muscleHum Mol Genet 2008, 17(12):1855-1866
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AHNAK, a novel component of the dysferlin protein complex, redistributes to the cytoplasm with dysferlin during skeletal muscle regenerationFASEB J 2007, 21(3):732-742
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Dysferlin deficiency shows compensatory induction of Rab27A/Slp2a that may contribute to inflammatory onsetAm J Pathol 2008, 173(5):1476-1487
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Phylogenetic analysis of ferlin genes reveals ancient eukaryotic originsBMC Evol Biol 2010, 10:231
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Dysferlin interacts with annexins A1 and A2 and mediates sarcolemmal wound-healingJ Biol Chem 2003, 278(50):50466-50473
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Protenomic identification of dysferlin-interacting protein complexes in human vascular endotheliumBiochem Biophys Res Commun 2011 Nov 18;415(2);263-9
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Dysferlin interacts with affixin (beta-parvin) at the sarcolemmaJ Neuropathol Exp Neurol 2005, 64(4):334-340
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Unique S100 target protein interactionsGen Physiol Biophys 2009, 28 Spec No Focus:F39-46
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Expression profiling with progression of dystrophic change in dysferlin-deficient mice (SJL)Neurosci Res 2005, 52(1):47-60
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In silico discovery and experimental validation of new protein-protein interactionsProteomics 2011, 11(5):843-853
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The differential gene expression profiles of proximal and distal muscle groups are altered in pre-pathological dysferlin-deficient miceNeuromuscul Disord 2005, 15(12):863-877
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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
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Targeted exon skipping as a potential gene correction therapy for Duchenne muscular dystrophyNeuromuscular disorders : NMD 2002, 12 Suppl 1:S71-77
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Antisense-induced exon skipping for duplications in Duchenne muscular dystrophyBMC Med Genet 2007, 8:43
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Exploring the frontiers of therapeutic exon skipping for Duchenne muscular dystrophy by double targeting within one or multiple exonsMol Ther 2006, 14(3):401-407
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Therapeutic exon skipping for dysferlinopathies?Eur J Hum Genet 2010, 18(8):889-894
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Less is more: therapeutic exon skipping for Duchenne muscular dystrophyLancet Neurol 2009, 8(10):873-875
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Exon skipping with morpholino oligomers: new treatment option for cardiomyopathy in Duchenne muscular dystrophy?Cardiovasc Res 2010, 85(3):409-410
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Clinical approaches in the treatment of Duchenne muscular dystrophy (DMD) using oligonucleotidesFront Biosci 2008, 13:517-527
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[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
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In vivo comparison of 2'-O-methyl phosphorothioate and morpholino antisense oligonucleotides for Duchenne muscular dystrophy exon skippingJ Gene Med 2009, 11(3):257-266
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Becker muscular dystrophy patients with deletions around exon 51; a promising outlook for exon skipping therapy in Duchenne patientsNeuromuscular disorders : NMD 2010, 20(4):251-254
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Therapeutic exon 'switching' for dysferlinopathies?European journal of human genetics : EJHG 2010, 18(9):969-970; author reply 971
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The status of exon skipping as a therapeutic approach to duchenne muscular dystrophyMol Ther 2011, 19(1):9-15
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Duchenne and Becker muscular dystrophy: from gene diagnosis to molecular therapyIUBMB Life 2002, 53(3):147-152
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[Mutation-specific treatments for Duchenne muscular dystrophy]Brain and nerve = Shinkei kenkyu no shinpo 2009, 61(8):915-922
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Splicing intervention for Duchenne muscular dystrophyCurr Opin Pharmacol 2005, 5(5):529-534
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Combining stem cells and exon skipping strategy to treat muscular dystrophyExpert Opin Biol Ther 2008, 8(8):1051-1061
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Exon-skipping therapy for Duchenne muscular dystrophyNeuropathology : official journal of the Japanese Society of Neuropathology 2009, 29(4):494-501
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Exon skipping, a therapy for Duchenne muscular dystrophy. Interview by Guenter ScheuerbrandtActa 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
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Non-viral gene therapy for Duchenne muscular dystrophy: progress and challengesBiochimica et biophysica acta 2007, 1772(2):263-271
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Private dysferlin exon skipping mutation (c.5492G>A) with a founder effect reveals further alternative splicing involving exons 49-51J Hum Genet 2010, 55(8):546-549
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[Exon skipping therapy for Duchenne muscular dystrophy by using antisense Morpholino]Rinsho shinkeigaku = Clinical neurology 2009, 49(11):856-858
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Intravenous infusion of an antisense oligonucleotide results in exon skipping in muscle dystrophin mRNA of Duchenne muscular dystrophyPediatr Res 2006, 59(5):690-694
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Rescue of a dystrophin-like protein by exon skipping in vivo restores GABAA-receptor clustering in the hippocampus of the mdx mouseMol Ther 2010, 18(9):1683-1688
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Assessment of the feasibility of exon 45-55 multiexon skipping for Duchenne muscular dystrophyBMC Med Genet 2008, 9:105
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In vitro evaluation of novel antisense oligonucleotides is predictive of in vivo exon skipping activity for Duchenne muscular dystrophyJ Gene Med 2010, 12(4):354-364
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Efficient bypass of mutations in dysferlin deficient patient cells by antisense-induced exon skippingHum Mutat 2010, 31(2):136-142
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Exon skipping and Duchenne muscular dystrophy: hope, hype and how feasible?Neurology India 2008, 56(3):254-262
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Potential of oligonucleotide-mediated exon-skipping therapy for Duchenne muscular dystrophyExpert Opin Biol Ther 2007, 7(6):831-842
Gene therapy
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Early adenovirus-mediated gene transfer effectively prevents muscular dystrophy in alpha-sarcoglycan-deficient miceGene Ther 2000, 7(16):1385-1391
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The role of immunosuppression in gene- and cell-based treatments for duchenne muscular dystrophyMol Ther 2007, 15(6):1040-1041
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Recombinant adeno-associated viral (rAAV) vectors as therapeutic tools for Duchenne muscular dystrophy (DMD)Gene Ther 2004, 11 Suppl 1:S109-121
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Proteasomal inhibition restores biological function of mis-sense mutated dysferlin in patient-derived muscle cellsJ Biol Chem 2012 Mar 23;287(13):10344-54
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Safety and efficacy of AAV-mediated calpain 3 gene transfer in a mouse model of limb-girdle muscular dystrophy type 2AMol Ther 2006, 13(2):250-259
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Gene therapy strategies for Duchenne muscular dystrophy utilizing recombinant adeno-associated virus vectorsMol Ther 2006, 13(2):241-249
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AAV-dependent targeting of myostatin function: follistatin strikes back at muscular dystrophyGene Ther 2008, 15(15):1075-1076
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New therapies for muscular dystrophy: cautious optimismTrends in molecular medicine 2004, 10(10):516-520
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From the smallest virus to the biggest gene: marching towards gene therapy for duchenne muscular dystrophyDiscov Med 2006, 6(33):103-108
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Differential effects of dystrophin and utrophin gene transfer in immunocompetent muscular dystrophy (mdx) micePhysiological genomics 2000, 3(3):133-144
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Transduction of myogenic cells by retargeted dual high-capacity hybrid viral vectors: robust dystrophin synthesis in duchenne muscular dystrophy muscle cellsMol Ther 2006, 13(5):976-986
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Highly efficient EIAV-mediated in utero gene transfer and expression in the major muscle groups affected by Duchenne muscular dystrophyGene Ther 2004, 11(14):1117-1125
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Substantial immune suppression required in gene therapy for muscular dystrophy?Neuromuscular disorders : NMD 2008, 18(1):83-84
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Gene therapy for Duchenne muscular dystrophy: AAV leads the wayActa 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
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The potential for gene therapy in Duchenne muscular dystrophy and other genetic muscle diseasesMuscle & nerve 1993, 16(11):1141-1153
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Cell-lineage regulated myogenesis for dystrophin replacement: a novel therapeutic approach for treatment of muscular dystrophyHuman molecular genetics 2008, 17(16):2507-2517
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A naturally occurring human minidysferlin protein repairs sarcolemmal lesions in a mouse model of dysferlinopathyScience translational medicine 2010, 2(50):50ra69
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Design of trans-splicing adeno-associated viral vectors for Duchenne muscular dystrophy gene therapyMethods Mol Biol 2008, 433:259-275
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rAAV vector-mediated sarcogylcan gene transfer in a hamster model for limb girdle muscular dystrophyGene Ther 1999, 6(1):74-82
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Transient immunomodulation allows repeated injections of AAV1 and correction of muscular dystrophy in multiple musclesMol Ther 2008, 16(3):541-547
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Efficient recovery of dysferlin deficiency by dual adeno-associated vector-mediated gene transferHuman molecular genetics 2010, 19(10):1897-1907
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Challenges for gene therapy for muscular dystrophyCurr Neurol Neurosci Rep 2006, 6(1):47-56
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Sustained alpha-sarcoglycan gene expression after gene transfer in limb-girdle muscular dystrophy, type 2DAnnals of neurology 2010, 68(5):629-638
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Limb-girdle muscular dystrophy type 2D gene therapy restores alpha-sarcoglycan and associated proteinsAnnals of neurology 2009, 66(3):290-297
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The future of Duchenne muscular dystrophy gene therapy: shrinking the dystrophin geneCurr Opin Mol Ther 2002, 4(4):343-348
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Gene therapy for duchenne muscular dystrophy: expectations and challengesArchives of neurology 2007, 64(9):1236-1241
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A translational approach for limb vascular delivery of the micro-dystrophin gene without high volume or high pressure for treatment of Duchenne muscular dystrophyJ Transl Med 2007, 5:45
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Molecular-targeted therapy for Duchenne muscular dystrophy: progress and potentialMol Diagn Ther 2008, 12(2):99-108
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AAV-directed muscular dystrophy gene therapyOpin Biol Ther 2010, 10(3):395-408
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Disease rescue and increased lifespan in a model of cardiomyopathy and muscular dystrophy by combined AAV treatmentsPLoS One 2009, 4(3):e5051
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Sustained AAV-mediated dystrophin expression in a canine model of Duchenne muscular dystrophy with a brief course of immunosuppressionMol Ther 2007, 15(6):1160-1166
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Immunological hurdles in the path to gene therapy for Duchenne muscular dystrophyExpert Rev Mol Med 2002, 4(23):1-23
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Intraarterial delivery of naked plasmid DNA expressing full-length mouse dystrophin in the mdx mouse model of duchenne muscular dystrophyHum Gene Ther 2004, 15(8):770-782
General reviews
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4th annual dysferlin conference 11-14 september 2010, washington, USANeuromuscul Disord 2011, 21(4):304-310
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5th annual dysferlin conference 11-14 july 2011, Chicago Illinois, USANueromuscul Disord. 2012 May; 22(5):471-7.
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DysferlinopathiesHandb Clin Neurol 2011, 101:111-118
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Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathyNeurology 2001, 57(2):271-278
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Translational research and therapeutic perspecives in dysferlinopathiesMol Med. 2011 Sept-Oct; 17(9-10):875-85
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A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2BNature genetics 1998, 20(1):37-42
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Dysferlin and muscular dystrophyActa Neurol Belg 2000, 100(3):142-145
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Making sense of the limb-girdle muscular dystrophiesBrain 1999, 122 ( Pt 8):1403-1420
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Muscle membrane repair and inflammatory attack in dysferlinopathySkelet Muscle. 2011 Mar1;1(1):10
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Distal myopathiesJ Neurol 2000, 247(3):169-174
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The congenital and limb-girdle muscular dystrophies: sharpening the focus, blurring the boundariesArch Neurol 2004, 61(2):189-199
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Limb-girdle muscular dystrophies--from genetics to molecular pathologyNeuropathol Appl Neurobiol 2004, 30(2):91-105
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Ferlins: regulators of vesicle fusion for auditory neurotransmission, receptor trafficking and membrane repairTraffic. 2012 Feb;13(2): 185-94
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Distal myopathiesCurr Opin Neurol 2005, 18(5):504-510
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Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathiesHum Mutat 2005, 26(2):165
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Ferlin proteins in myoblast fusion and muscle growthCurr Top Dev Biol. 2011;96:203-30
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The childhood muscular dystrophies: making order out of chaosSemin Neurol 1999, 19(1):9-23
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Distal myopathiesCurr Opin Neurol 2001, 14(5):561-566
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DysferlinopathiesNeurol India 2008, 56(3):289-297
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Progressive dysphagia in limb-girdle muscular dystrophy type 2BMuscle Nerve 2011, 43(5):761-763
Immune response
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The inflammatory reaction pattern distinguishes primary dysferlinopathies from idiopathic inflammatory myopathies: an important role for the membrane attack complexActa neuropathologica 2006, 112(3):325-332
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Muscle inflammation and MHC class I up-regulation in muscular dystrophy with lack of dysferlin: an immunopathological studyJ Neuroimmunol 2003, 142(1-2):130-136
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Dysferlin regulates cell adhesion in human monocytesJ Biol Chem. 2013 Apr 4.
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Absence of T and B lymphocytes modulates dystrophic features in dysferlin deficient animal model.Exp cell res. 2012. Mar 23. [Epub ahead of print]
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Inhibition of muscle fibrosis and improvement of muscle histopathology in dysferlin knock-out mice treated with halofuginoneHistol Histopathol. 2013 Feb;28(2):211-26.
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Genetic ablation of complement C3 attenuates muscle pathology in dysferlin-deficient miceJ Clin Invest 2010, 120(12):4366-4374
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The susceptibility to experimental autoimmune encephalomyelitis is not related to dysferlin-deficiencyAutoimmunity 2009, 42(3):235-241
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Dysferlin deficiency shows compensatory induction of Rab27A/Slp2a that may contribute to inflammatory onsetAm J Pathol 2008, 173(5):1476-1487
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Dysferlin-deficient muscular dystrophy and innate immune activationFEBS J. 2013 Mar 25. doi: 10.1111/febs.12261. [Epub ahead of print]
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Splicing mutation in dysferlin produces limb-girdle muscular dystrophy with inflammationAm J Med Genet 2000, 91(4):305-312
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Dysferlin deficiency enhances monocyte phagocytosis: a model for the inflammatory onset of limb-girdle muscular dystrophy 2BAm J Pathol 2008, 172(3):774-785
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Histological and immunohistological changes of the skeletal muscles in older SJL/J miceEur Neurol 2007, 57(1):19-25
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Anti-TNF therapy using etanercept suppresses degenerative and inflammatory changes in skeletal muscle of older SJL/J miceExp Mol Pathol 2011, 90(3):264-270
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Clinical, morphological and immunological evaluation of six patients with dysferlin deficiencyActa Neuropathol 2003, 105(6):537-542
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Inflammasome up-regulation and activation in dysferlin-deficient skeletal muscleAm J Pathol 2010, 176(6):2891-2900
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Muscle inflammation, autoimmune Addison's disease and sarcoidosis in a patient with dysferlin deficiencyNeuromuscul Disord 2006, 16(3):208-209
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Shifts in macrophage phenotypes and macrophage competition for arginine metabolism affect the severity of muscle pathology in muscular dystrophyHuman molecular genetics 2009, 18(3):482-496
Membrane repair
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Dysferlin and the plasma membrane repair in muscular dystrophyTrends Cell Biol 2004, 14(4):206-213
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Defective membrane repair in dysferlin-deficient muscular dystrophyNature 2003, 423(6936):168-172
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Reverse engineering gene network identifies new dysferlin-interacting proteinsJ Biol Chem 2011, 286(7):5404-5413
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MG53 nucleates assembly of cell membrane repair machineryNat Cell Biol 2009, 11(1):56-64
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Membrane repair defects in muscular dystrophy are linked to altered interaction between MG53, caveolin-3, and dysferlinThe Journal of biological chemistry 2009, 284(23):15894-15902
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Ultrastructural changes in dysferlinopathy support defective membrane repair mechanismJ Clin Pathol 2005, 58(2):190-195
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Attenuated muscle regeneration is a key factor in dysferlin-deficient muscular dystrophyHum Mol Genet 2009, 18(11):1976-1989
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Membrane wounding triggers ATP release and dysferlin-mediated intercellular calcium signalingJ Cell Sci 2010, 123(Pt 11):1884-1893
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Calcium-sensitive phospholipid binding properties of normal and mutant ferlin C2 domainsJ Biol Chem 2002, 277(25):22883-22888
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Repairing the tears: dysferlin in muscle membrane repairTrends Mol Med 2003, 9(8):327-330
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Dysferlin in membrane trafficking and patch repairTraffic 2007, 8(7):785-794
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Dysferlin-mediated membrane repair protects the heart from stress-induced left ventricular injuryJ Clin Invest 2007, 117(7):1805-1813
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Dysferlin and muscle membrane repairCurr Opin Cell Biol 2007, 19(4):409-416
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Patients with a non-dysferlin Miyoshi myopathy have a novel membrane repair defectTraffic 2007, 8(1):77-88
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From T-tubule to sarcolemma: damage-induced dysferlin translocation in early myogenesisFASEB J 2007, 21(8):1768-1776
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A naturally occurring human minidysferlin protein repairs sarcolemmal lesions in a mouse model of dysferlinopathyScience translational medicine 2010, 2(50):50ra69
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Torn apart: membrane rupture in muscular dystrophies and associated cardiomyopathiesJ Clin Invest 2007, 117(7):1749-1752
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Calpains, cleaved mini-dysferlinC72, and L-type channels underpin calcium-dependent muscle membrane repairJ Neurosci. 2013 Mar 20;33(12):5085-94. doi: 10.1523/JNEUROSCI.3560-12.2013
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Dysferlin interacts with annexins A1 and A2 and mediates sarcolemmal wound-healingJ Biol Chem 2003, 278(50):50466-50473
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Efficient recovery of dysferlin deficiency by dual adeno-associated vector-mediated gene transferHuman molecular genetics 2010, 19(10):1897-1907
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Impaired recovery of dysferlin-null skeletal muscle after contraction-induced injury in vivoNeuroreport 2008, 19(16):1579-1584
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Plasma membrane repair in plantsTrends Plant Sci 2009, 14(12):645-652
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A new role for the muscle repair protein dysferlin in endothelial cell adhesion and angiogenesisArterioscler Thromb Vasc Biol 2010, 30(11):2196-2204
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Continuous administration of poloxamer 188 reduces overload-induced muscular atrophy in dysferlin-deficient SJL mice.Neurosci Res. 2012 Feb;72(2):181-6
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Dysferlin, Annexin A1, and Mitsugumin 53 Are Upregulated in Muscular Dystrophy and Localize to Longitudinal Tubules of the T-System With StretchJournal of neuropathology and experimental neurology 2011, 70(4):302-313
Membrane stabilization
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Poloxamer 188 reduces the contraction-induced force decline in lumbrical muscles from mdx miceAmerican journal of physiology Cell physiology 2008, 295(1):C146-150
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Chronic administration of membrane sealant prevents severe cardiac injury and ventricular dilatation in dystrophic dogsThe Journal of clinical investigation 2010, 120(4):1140-1150
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Cardiomyopathy of Duchenne muscular dystrophy: pathogenesis and prospect of membrane sealants as a new therapeutic approachExpert Rev Cardiovasc Ther 2007, 5(1):99-109
Muscle regeneration
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Dual Effects of Exercise in DysferlinopathyAm J Pathol. 2013 Apr 24. pii: S0002-9440(13)00252-6. doi: 10.1016/j.ajpath.2013.02.045. [Epub ahead of print]
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Attenuated muscle regeneration is a key factor in dysferlin-deficient muscular dystrophyHum Mol Genet 2009, 18(11):1976-1989
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AHNAK, a novel component of the dysferlin protein complex, redistributes to the cytoplasm with dysferlin during skeletal muscle regenerationFASEB J 2007, 21(3):732-742
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Extracellular Regulation of Myostatin: A Molecular Rheostat for Muscle MassImmunol Endocr Metab Agents Med Chem 2010, 10:183-194
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Quadrupling muscle mass in mice by targeting TGF-beta signaling pathwaysPLoS One 2007, 2(8):e789
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Regulation of muscle mass by follistatin and activinsMol Endocrinol 2010, 24(10):1998-2008
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Regulation of myostatin activity and muscle growthProceedings of the National Academy of Sciences of the United States of America 2001, 98(16):9306-9311
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Regulation of muscle growth by multiple ligands signaling through activin type II receptorsProceedings of the National Academy of Sciences of the United States of America 2005, 102(50):18117-18122
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Activin IIB receptor blockade attenuates dystrophic pathology in a mouse model of Duchenne muscular dystrophyMuscle & nerve 2010, 42(5):722-730
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Loss of myostatin attenuates severity of muscular dystrophy in mdx miceAnnals of neurology 2002, 52(6):832-836
Read-through approaches
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New insights in gene-derived therapy: the example of Duchenne muscular dystrophyAnn N Y Acad Sci 2010, 1214:199-212
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Progress in gene therapy for Duchenne muscular dystrophyCurr Neurol Neurosci Rep 2001, 1(1):89-96
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Premature chain termination mutation causing Duchenne muscular dystrophyNeurology 1992, 42(9):1775-1782
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Read-through strategies for suppression of nonsense mutations in Duchenne/ Becker muscular dystrophy: aminoglycosides and ataluren (PTC124)J Child Neurol 2010, 25(9):1158-1164
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Drug evaluation: PTC-124--a potential treatment of cystic fibrosis and Duchenne muscular dystrophyIDrugs 2006, 9(11):783-789
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A novel approach to identify Duchenne muscular dystrophy patients for aminoglycoside antibiotics therapyBrain & development 2005, 27(6):400-405
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Genetic treatments in muscular dystrophiesCurrent opinion in neurology 2007, 20(5):590-594
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Current Status of Pharmaceutical and Genetic Therapeutic Approaches to Treat DMDMol Ther 2011
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Pharmaceuticals targeting nonsense mutations in genetic diseases: progress in developmentBioDrugs 2009, 23(3):165-174
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Therapeutic restoration of dystrophin expression in Duchenne muscular dystrophyJ Muscle Res Cell Motil 2006, 27(5-7):387-398
Stem cells
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Cell based therapy for Duchenne muscular dystrophyJ Cell Physiol 2009, 221(3):526-534
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Myogenic stem cells from the bone marrow: a therapeutic alternative for muscular dystrophy?Neuromuscular disorders : NMD 2002, 12 Suppl 1:S7-10
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Human mesenchymal stem cells ectopically expressing full-length dystrophin can complement Duchenne muscular dystrophy myotubes by cell fusionHuman molecular genetics 2006, 15(2):213-221
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Long-term transgene expression in mouse neural progenitor cells modified with phiC31 integraseJ Neurosci Methods 2008, 173(2):299-305
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Human umbilical cord blood cells differentiate into muscle in sjl muscular dystrophy miceStem Cells 2004, 22(6):981-993
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Dysferlin expression after normal myoblast transplantation in SCID and in SJL miceNeuromuscul Disord 2002, 12(2):167-173
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A highly functional mini-dystrophin/GFP fusion gene for cell and gene therapy studies of Duchenne muscular dystrophyHuman molecular genetics 2006, 15(10):1610-1622
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Mesenchymal stem cells: emerging therapy for Duchenne muscular dystrophyPm R 2009, 1(6):547-559
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Stem cell therapies to treat muscular dystrophy: progress to dateBioDrugs 2010, 24(4):237-247
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Combining stem cells and exon skipping strategy to treat muscular dystrophyExpert Opin Biol Ther 2008, 8(8):1051-1061
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Generation of skeletal muscle stem/progenitor cells from murine induced pluripotent stem cellsThe FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2010, 24(7):2245-2253
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Cell transplantation and gene therapy in muscular dystrophyBioessays 1992, 14(9):641-645
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DYS-HAC-iPS cells: the combination of gene and cell therapy to treat duchenne muscular dystrophyMol Ther 2010, 18(2):238-240
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Efficient and Reproducible Myogenic Differentiation from Human iPS Cells: Prospects for Modeling Miyoshi Myopathy In VitroPLoS One. 2013 Apr 23;8(4):e61540. doi: 10.1371/journal.pone.0061540. Print 2013
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Human multipotent mesenchymal stromal cells from distinct sources show different in vivo potential to differentiate into muscle cells when injected in dystrophic miceStem Cell Rev 2010, 6(4):560-566
