Results 71 to 80 of about 6,430 (245)
Proteasome inhibitors reduce thrombospondin-1 release in human dysferlin-deficient myotubes
BMC Musculoskeletal Disorders, 2020 Background Dysferlinopathies are a group of muscle disorders causing muscle weakness and absence or low levels of dysferlin, a type-II transmembrane protein and the causative gene of these dystrophies.
Esther Fernández-Simón +6 more
doaj +1 more source
PLoS ONE, 2023 [This corrects the article DOI: 10.1371/journal.pone.0214908.].
E. Lloyd +4 more
semanticscholar +1 more source
Journal of Cachexia, Sarcopenia and Muscle, 2021 Muscular dystrophy (MD) causes muscle wasting and is often lethal in patients due to a lack of proven therapies. In contrast, mouse models of MD are notoriously mild.
Z. White +7 more
semanticscholar +1 more source
Dysferlin and Animal Models for Dysferlinopathy
Journal of Toxicologic Pathology, 2012 Dysferlin (DYSF) is involved in the membrane-repair process, in the intracellular vesicle system and in T-tubule development in skeletal muscle. It interacts with mitsugumin 53, annexins, caveolin-3, AHNAK, affixin, S100A10, calpain-3, tubulin and dihydropyridine receptor.
Kobayashi, Kinji +3 more
openaire +3 more sources
Cellular and molecular mechanisms underlying muscular dystrophy [PDF]
, 2014 The muscular dystrophies are a group of heterogeneous genetic diseases characterized by progressive degeneration and weakness of skeletal muscle. Since the discovery of the first muscular dystrophy gene encoding dystrophin, a large number of genes have ...
Kunkel, Louis M., Rahimov, Fedik
core +1 more source
Secreted acid sphingomyelinase as a potential gene therapy for limb girdle muscular dystrophy 2B
The Journal of Clinical Investigation, 2022 Efficient sarcolemmal repair is required for muscle cell survival, with deficits in this process leading to muscle degeneration. Lack of the sarcolemmal protein dysferlin impairs sarcolemmal repair by reducing secretion of the enzyme acid ...
Daniel C. Bittel +6 more
doaj +1 more source
International Journal of Molecular Sciences, 2022 Dysferlinopathies are a clinically heterogeneous group of muscular dystrophies caused by a genetic deficiency of the membrane-associated protein dysferlin, which usually manifest post-growth in young adults.
E. Lloyd +3 more
semanticscholar +1 more source
Genetic disruption of Ano5 in mice does not recapitulate human ANO5-deficient muscular dystrophy [PDF]
, 2015 BACKGROUND: Anoctamin 5 (ANO5) is a member of a conserved gene family (TMEM16), which codes for proteins predicted to have eight transmembrane domains and putative Ca(2+)-activated chloride channel (CaCC) activity. It was recently reported that mutations
Jing Xu +8 more
core +1 more source
Proteomic Profiling of Myofiber Repair Annexins and Their Role in Duchenne Muscular Dystrophy
PROTEOMICS, EarlyView.ABSTRACT Myofiber regeneration and membrane repair play crucial roles in maintaining the continuous physiological functioning of the neuromuscular system. A swift and efficient repair mechanism enables the rapid restoration of sarcolemmal integrity following cellular impairment in damaged skeletal muscles.
Paul Dowling +6 more
wiley +1 more source
Pharmacotherapeutic Approaches to Treatment of Muscular Dystrophies
Biomolecules, 2023 Muscular dystrophies are a heterogeneous group of genetic muscle-wasting disorders that are subdivided based on the region of the body impacted by muscle weakness as well as the functional activity of the underlying genetic mutations. A common feature of
Alan Rawls +5 more
doaj +1 more source