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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 +1 more source
Dysferlin and the Regulation of Ca<sup>2+</sup> Release in Skeletal Muscle. [PDF]
CellsDysferlin is a large transmembrane protein that is mutated or absent in Limb Girdle Muscular Dystrophy Type R2 (LGMD R2). Although it may have several functions in healthy skeletal muscle, most research on dysferlin has addressed its roles in repair of the sarcolemma and in maintaining proper control of Ca2+ homeostasis at the triad junction, where it ...
Bloch RJ, Muriel J, Lukyanenko V.
europepmc +3 more sources
Solution structure of the inner DysF domain of myoferlin and implications for limb girdle muscular dystrophy type 2b [PDF]
, 2008 Mutations in the protein dysferlin, a member of the ferlin family, lead to limb girdle muscular dystrophy type 2B and Myoshi myopathy. The ferlins are large proteins characterised by multiple C2 domains and a single C-terminal membrane-spanning helix ...
Geddes, Stella M. +8 more
core +1 more source
Trophoblast cell fusion and differentiation are mediated by both the protein kinase C and a pathways. [PDF]
PLoS ONE, 2013 The syncytiotrophoblast of the human placenta is an epithelial barrier that interacts with maternal blood and is a key for the transfer of nutrients and other solutes to the developing fetus.
Waka Omata +3 more
doaj +1 more source
Dysferlin interacts with histone deacetylase 6 and increases alpha-tubulin acetylation. [PDF]
PLoS ONE, 2011 Dysferlin is a multi-C2 domain transmembrane protein involved in a plethora of cellular functions, most notably in skeletal muscle membrane repair, but also in myogenesis, cellular adhesion and intercellular calcium signaling.
Sabrina Di Fulvio +3 more
doaj +1 more source
FER-1/Dysferlin promotes cholinergic signaling at the neuromuscular junction in C. elegans and mice
Biology Open, 2013 Summary Dysferlin is a member of the evolutionarily conserved ferlin gene family. Mutations in Dysferlin lead to Limb Girdle Muscular Dystrophy 2B (LGMD2B), an inherited, progressive and incurable muscle disorder.
Predrag Krajacic +4 more
doaj +1 more source
, 2022 A. C2-FerA domain schematic showings the secondary structure connectivity and the large insertion of the β4–5 FerA subdomain. B. SDS-PAGE showing the purified dysferlin C2-FerA domain versus molecular weight size markers. C.
Jon J. McCord (11977550) +2 more
core +1 more source
PLoS ONE, 2012 Mutations in the dysferlin gene are the cause of Limb-girdle Muscular Dystrophy type 2B and Miyoshi Myopathy. The dysferlin protein has been implicated in sarcolemmal resealing, leading to the idea that the pathophysiology of dysferlin deficiencies is ...
William Lostal +13 more
doaj +1 more source
Expression of myoferlin in human airway epithelium and its role in cell adhesion and zonula occludens-1 expression. [PDF]
PLoS ONE, 2012 Normal airway epithelial barrier function is maintained by cell-cell contacts which require the translocation of adhesion proteins at the cell surface, through membrane vesicle trafficking and fusion events.
Cleo Leung +3 more
doaj +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