Results 51 to 60 of about 6,430 (245)
Frontiers in Neurology, 2021 Objective: Dysferlin deficiency causes dysferlinopathy. This study aimed to expand the mutational spectrum of dysferlinopathies, to further study one case with diagnostic ambiguity, and to identify the diagnostic value of dysferlin expression in total ...
Huili Zhang +5 more
doaj +1 more source
Lower Limb Radiology of Distal Myopathy due to the S60F Myotilin Mutation [PDF]
, 2009 Distal myopathies are a clinically and genetically heterogenous group of disorders in which the distal limb musculature is selectively or disproportionately affected.
Birchall, Daniel +8 more
core +1 more source
609. Systemic Delivery of Dysferlin Overlap Vectors Mediates Functional Recovery of Dysferlin Deficiency [PDF]
Molecular Therapy, 2015 Dysferlinopathies comprise a family of disorders caused by mutations in the dysferlin (DYSF) gene leading to absent or mutant protein. Dysferlin protein has been implicated in multiple functional roles specifically in membrane stabilization/repair, t-tubule formation and vesicle trafficking.
Sondergaard, Patricia C. +6 more
openaire +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
Calpains, Cleaved Mini-Dysferlin(C72), and L-Type Channels Underpin Calcium-Dependent Muscle Membrane Repair [PDF]
, 2013 Dysferlin is proposed as a key mediator of calcium-dependent muscle membrane repair, although its precise role has remained elusive. Dysferlin interacts with a new membrane repair protein, mitsugumin 53 (MG53), an E3 ubiquitin ligase that shows rapid ...
Cooper, ST +8 more
core +3 more sources
Dysferlin in Membrane Trafficking and Patch Repair [PDF]
Traffic, 2007 The muscular dystrophies are a heterogeneous group of inherited disorders, defined by progressive muscle weakness and atrophy. Following the discovery of dystrophin, remarkable progress has been made in defining the molecular properties of proteins involved in the various dystrophies.
Louise, Glover, Robert H, Brown
openaire +2 more sources
PLoS ONE, 2020 Limb-girdle muscular dystrophy type 2B (LGMD2B) is caused by mutations in the dysferlin gene, resulting in non-functional dysferlin, a key protein found in muscle membrane.
Mary L Vallecillo-Zúniga +13 more
doaj +1 more source
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 ...
Achanzar +70 more
core +1 more source
DNA-Mediated Gene Therapy in a Mouse Model of Limb Girdle Muscular Dystrophy 2B
Molecular Therapy: Methods & Clinical Development, 2017 Mutations in the gene for dysferlin cause a degenerative disorder of skeletal muscle known as limb girdle muscular dystrophy 2B. To achieve gene delivery of plasmids encoding dysferlin to hind limb muscles of dysferlin knockout mice, we used a vascular ...
Julia Ma +4 more
doaj +1 more source