Results 11 to 20 of about 6,430 (245)
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 +5 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.
Helena Escobar +2 more
exaly +6 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 +5 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
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
Metabolic dysregulation contributes to the development of dysferlinopathy [PDF]
Life Science AllianceDysferlin deficiency causes metabolic dysregulation, characterized by mitochondrial abnormalities, death signaling, and elevated glucose uptake and excessive glycogen accumulation in muscle.
Regula Furrer +7 more
doaj +2 more sources
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 +8 more sources
Physiological Reports, 2023 Muscular dystrophy (MD) is a genetic disorder that causes progressive muscle weakness and degeneration. Limb‐girdle muscular dystrophy (LGMD) is a type of MD that mainly causes muscle atrophy within the shoulder and pelvic girdles.
Yen‐Lin Chen +6 more
doaj +2 more sources
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
doaj +2 more sources