Results 61 to 70 of about 6,430 (245)
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
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
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
openaire +2 more sources
The C2 domains of dysferlin: roles in membrane localization, Ca2+ signalling 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
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
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
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
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