Minimal expression of dysferlin prevents development of dysferlinopathy in dysferlin exon 40a knockout mice [PDF]
Acta Neuropathologica Communications, 2023 Dysferlin is a Ca2+-activated lipid binding protein implicated in muscle membrane repair. Recessive variants in DYSF result in dysferlinopathy, a progressive muscular dystrophy.
Joe Yasa +13 more
doaj +7 more sources
Full-length Dysferlin Transfer by the Hyperactive Sleeping Beauty Transposase Restores Dysferlin-deficient Muscle [PDF]
Molecular Therapy - Nucleic Acids, 2016 Dysferlin-deficient muscular dystrophy is a progressive disease characterized by muscle weakness and wasting for which there is no treatment. It is caused by mutations in DYSF, a large, multiexonic gene that forms a coding sequence of 6.2 kb.
Simone Spuler +2 more
exaly +9 more sources
Dysferlin-peptides reallocate mutated dysferlin thereby restoring function. [PDF]
PLoS ONE, 2012 Mutations in the dysferlin gene cause the most frequent adult-onset limb girdle muscular dystrophy, LGMD2B. There is no therapy. Dysferlin is a membrane protein comprised of seven, beta-sheet enriched, C2 domains and is involved in Ca(2+)dependent ...
Verena Schoewel +7 more
doaj +7 more sources
Comparison of dysferlin expression in human skeletal muscle with that in monocytes for the diagnosis of dysferlin myopathy. [PDF]
PLoS ONE, 2011 BackgroundDysferlinopathies are caused by mutations in the dysferlin gene (DYSF). Diagnosis is complex due to the high clinical variability of the disease and because dysferlin expression in the muscle biopsy may be secondarily reduced due to a primary ...
Eduard Gallardo +8 more
doaj +11 more sources
Dysferlin interacts with tubulin and microtubules in mouse skeletal muscle. [PDF]
PLoS ONE, 2010 Dysferlin is a type II transmembrane protein implicated in surface membrane repair in muscle. Mutations in dysferlin lead to limb girdle muscular dystrophy 2B, Miyoshi Myopathy and distal anterior compartment myopathy.
Bilal A Azakir +3 more
doaj +3 more sources
Dystrophin deficiency exacerbates skeletal muscle pathology in dysferlin-null mice [PDF]
Skeletal Muscle, 2011 Background Mutations in the genes coding for either dystrophin or dysferlin cause distinct forms of muscular dystrophy. Dystrophin links the cytoskeleton to the sarcolemma through direct interaction with β-dystroglycan.
Han Renzhi +4 more
doaj +2 more sources
Syntaxin 4-enhanced plasma membrane repair is independent of dysferlin in skeletal muscle. [PDF]
Am J Physiol Cell PhysiolPlasma membrane repair (PMR) restores membrane integrity of cells, preventing cell death in vital organs, and has been studied extensively in skeletal muscle.
Chen HY, Michele DE.
europepmc +2 more sources
Annexin A2 Mediates Dysferlin Accumulation and Muscle Cell Membrane Repair
Cells, 2020 Muscle cell plasma membrane is frequently damaged by mechanical activity, and its repair requires the membrane protein dysferlin. We previously identified that, similar to dysferlin deficit, lack of annexin A2 (AnxA2) also impairs repair of skeletal ...
Daniel C. Bittel +7 more
doaj +2 more sources
Plasma membrane repair defect in Alzheimer's disease neurons is driven by the reduced dysferlin expression. [PDF]
FASEB JAlzheimer's disease (AD) is the most common neurodegenerative disease, and a defect in neuronal plasma membrane repair could exacerbate neurotoxicity, neuronal death, and disease progression.
Bulgart HR +9 more
europepmc +2 more sources
Dysfunction of dysferlin-deficient hearts [PDF]
Journal of Molecular Medicine, 2007 Mutations in the gene encoding dysferlin cause limb-girdle muscular dystrophy 2B (LGMD2B), a disorder that is believed to spare the heart. We observed dilated cardiomyopathy in two out of seven LGMD2B patients and cardiac abnormalities in three others.
Katrin, Wenzel +12 more
openaire +3 more sources