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
Functional muscle hypertrophy by increased insulin-like growth factor 1 does not require dysferlin. [PDF]
, 2019 IntroductionDysferlin loss-of-function mutations cause muscular dystrophy, accompanied by impaired membrane repair and muscle weakness. Growth promoting strategies including insulin-like growth factor 1 (IGF-1) could provide benefit but may cause ...
Barton, Elisabeth R +9 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
Major Histocompatibility Complex I and II Expression and Lymphocytic Subtypes in Muscle of Horses with Immune-Mediated Myositis. [PDF]
, 2016 BackgroundMajor histocompatibility complex (MHC) I and II expression is not normally detected on sarcolemma, but is detected with lymphocytic infiltrates in immune-mediated myositis (IMM) of humans and dogs and in dysferlin-deficient muscular dystrophy ...
Barnes, N +6 more
core +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
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
Peripheral blood gene expression reveals an inflammatory transcriptomic signature in Friedreich's ataxia patients. [PDF]
, 2018 Transcriptional changes in Friedreich's ataxia (FRDA), a rare and debilitating recessive Mendelian neurodegenerative disorder, have been studied in affected but inaccessible tissues-such as dorsal root ganglia, sensory neurons and cerebellum-in animal ...
Coppola, Giovanni +11 more
core +1 more source