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
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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.
Helena Escobar +4 more
doaj +4 more sources
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
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The Dysferlin Domain-Only Protein, Spo73, Is Required for Prospore Membrane Extension in
mSphere, 2016 Sporulation of Saccharomyces cerevisiae is a developmental process in which an ascus containing four haploid spores forms from a diploid cell. During this process, newly formed membrane structures called prospore membranes extend along the nuclear ...
Yuuya Okumura +9 more
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Cryo-EM structures of the membrane repair protein dysferlin [PDF]
Nature CommunicationsPlasma membrane repair in response to damage is essential for cell viability. The ferlin family protein dysferlin plays a key role in Ca2+-dependent membrane repair in striated muscles.
Hsiang-Ling Huang +3 more
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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
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Gene-editing in patient and humanized-mice primary muscle stem cells rescues dysferlin expression in dysferlin-deficient muscular dystrophy [PDF]
Nature CommunicationsDystrophy-associated fer-1-like protein (dysferlin) conducts plasma membrane repair. Mutations in the DYSF gene cause a panoply of genetic muscular dystrophies.
Helena Escobar +12 more
doaj +2 more sources
Dysferlinopathy as cause of long-term hyperCKemia with preserved strength [PDF]
Orphanet Journal of Rare DiseasesBackground Dysferlin (DYSF) has a crucial role in sarcolemmal repair. While DYSF mutations commonly manifest as limb-girdle muscular dystrophy (LGMDR2) or distal Miyoshi myopathy, atypical manifestations, such as asymptomatic hyperCKemia and ...
Ikreet Cheema +5 more
doaj +2 more sources
Muscle-specific Ryanodine receptor 1 properties underlie limb-girdle muscular dystrophy 2B/R2 progression [PDF]
Nature CommunicationsRyanodine receptor 1 Ca2+ leak is a signal in skeletal muscle, but chronic leak can underlie pathology. Here we show that in healthy male mouse, limb-girdle muscle presents higher sympathetic input, elevated ryanodine receptor 1 basal phosphorylation ...
Aldo Meizoso-Huesca +5 more
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The Dysferlin Transcript Containing the Alternative Exon 40a is Essential for Myocyte Functions
Frontiers in Cell and Developmental Biology, 2021 Dysferlinopathies are a group of muscular dystrophies caused by recessive mutations in the DYSF gene encoding the dysferlin protein. Dysferlin is a transmembrane protein involved in several muscle functions like T-tubule maintenance and membrane repair ...
Océane Ballouhey +12 more
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