Characterization of zebrafish dysferlin by morpholino knockdown [PDF]
Biochemical and Biophysical Research Communications, 2011 Mutations in the gene encoding dysferlin cause two distinct muscular dystrophy phenotypes: limb-girdle muscular dystrophy type 2B (LGMD-2B) and Miyoshi myopathy (MM). Dysferlin is a large transmembrane protein involved in myoblast fusion and membrane resealing.
Genri, Kawahara +4 more
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Mechanisms of Endothelial Cell Membrane Repair: Progress and Perspectives
Cells, 2023 Endothelial cells are the crucial inner lining of blood vessels, which are pivotal in vascular homeostasis and integrity. However, these cells are perpetually subjected to a myriad of mechanical, chemical, and biological stresses that can compromise ...
Duoduo Zha +5 more
doaj +1 more source
The muscle protein dysferlin accumulates in the Alzheimer brain [PDF]
, 2006 Dysferlin is a transmembrane protein that is highly expressed in muscle. Dysferlin mutations cause limb-girdle dystrophy type 2B, Miyoshi myopathy and distal anterior compartment myopathy. Dysferlin has also been described in neural tissue.
James E. Galvin +34 more
core +1 more source
Muscle inactivation of mTOR causes metabolic and dystrophin defects leading to severe myopathy [PDF]
, 2009 Mammalian target of rapamycin (mTOR) is a key regulator of cell growth that associates with raptor and rictor to form the mTOR complex 1 (mTORC1) and mTORC2, respectively.
Baas, Dominique +27 more
core +5 more sources
Characterisation of the dysferlin skeletal muscle promoter [PDF]
European Journal of Human Genetics, 2003 Deficiency of the skeletal muscle membrane protein dysferlin causes the related and overlapping neuromuscular disorders limb-girdle muscular dystrophy type 2B (LGMD2B) and Miyoshi myopathy. This paper describes the preliminary characterisation of the human dysferlin promoter. The transcriptional start site of dysferlin has been mapped using 5' RACE PCR,
Foxton RM, Laval SH, Bushby KMD
openaire +3 more sources
Proper Voltage-Dependent Ion Channel Function in Dysferlin-Deficient Cardiomyocytes
Cellular Physiology and Biochemistry, 2015 Background/Aims: Dysferlin plays a decisive role in calcium-dependent membrane repair in myocytes. Mutations in the encoding DYSF gene cause a number of myopathies, e.g. limb-girdle muscular dystrophy type 2B (LGMD2B).
Lena Rubi +5 more
doaj +1 more source
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
Dysferlinopathy in Switzerland: clinical phenotypes and potential founder effects. [PDF]
, 2015 BACKGROUND: Dysferlin is reduced in patients with limb girdle muscular dystrophy type 2B, Miyoshi myopathy, distal anterior compartment myopathy, and in certain Ethnic clusters. METHODS: We evaluated clinical and genetic patient data from three different
Fischer, D. +10 more
core +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