Current Genomics, 2023 Background Dysferlinopathies represent a group of limb girdle or distal muscular dystrophies with an autosomal-recessive inheritance pattern resulting from the presence of pathogenic variants in the dysferlin gene (DYSF).
I. A. Motta +18 more
semanticscholar +1 more source
Dysferlin mediates membrane tubulation and links T-tubule biogenesis to muscular dystrophy [PDF]
, 2017 The multi-C2 domain protein dysferlin localizes to the plasma membrane and the T-tubule system in skeletal muscle; however, its physiological mode of action is unknown. Mutations in the DYSF gene lead to autosomal recessive limb-girdle muscular dystrophy
Büssenschütt, Ronja +10 more
core +1 more source
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
The C2 Domains of Dysferlin: Roles in Membrane Localization, Ca2+ Signaling and Sarcolemmal Repair
Journal of Physiology, 2022 Dysferlin is an integral membrane protein of the transverse tubules of skeletal muscle that is mutated or absent in limb girdle muscular dystrophy 2B and Miyoshi myopathy.
J. Muriel +6 more
semanticscholar +1 more source
A Dysferlin Exon 32 Nonsense Mutant Mouse Model Shows Pathological Signs of Dysferlinopathy
Biomedicines, 2023 Dysferlinopathies are a group of autosomal recessive muscular dystrophies caused by pathogenic variants in the DYSF gene. While several animal models of dysferlinopathy have been developed, most of them involve major disruptions of the Dysf gene locus ...
O. Ballouhey +8 more
semanticscholar +1 more source
Placental Dysferlin Expression is Reduced in Severe Preeclampsia [PDF]
Placenta, 2009 Dysferlin (DYSF) and myoferlin (MYOF), members of the ferlin family of membrane proteins, are co-expressed in human placental syncytiotrophoblast (STB). Although the role of these ferlin proteins in the placenta has yet to be established, it has been suggested that DYSF and MYOF may contribute to the stability of the apical STB plasma membrane.
C T, Lang +7 more
openaire +2 more sources
Dysferlin is a new marker for leaky brain blood vessels in multiple sclerosis [PDF]
, 2006 Dysferlin is a muscle protein involved in cell membrane repair and its deficiency is associated with muscular dystrophy. We describe that dysferlin is also expressed in leaky endothelial cells.
Bauer, Jan +11 more
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
Ancestry dependent balancing selection of placental dysferlin at high-altitude
Frontiers in Cell and Developmental Biology, 2023 Introduction: The placenta mediates fetal growth by regulating gas and nutrient exchange between the mother and the fetus. The cell type in the placenta where this nutrient exchange occurs is called the syncytiotrophoblast, which is the barrier between ...
William Gundling +5 more
semanticscholar +1 more source