Results 51 to 60 of about 4,001 (193)
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
, 2019 Systolic, diastolic and mean arterial blood pressure measurements (MABP) in dysferlin-null mice treated acutely (6 weeks) with a 0.6g/L dose of losartan (A), and EC50 of losartan dose response curves in both WT and dysferlin-null cohorts (B).
Arash Y. Tehrani (7208330) +6 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
Journal of Diabetes Investigation, EarlyView.Circulating Annexin A2 is positively associated with peripheral insulin sensitivity. ABSTRACT Background and Aim Subcellular annexin A2 (ANXA2) is known to regulate membrane dynamics and GLUT4 trafficking in adipocytes; however, the role of serum ANXA2 in glucose metabolism remains unclear.
Yuichi Ito +12 more
wiley +1 more source
Dysferlin Interacts with Affixin (β-Parvin) at the Sarcolemma [PDF]
Journal of Neuropathology & Experimental Neurology, 2005 The dysferlin gene is defective in Miyoshi myopathy (MM) and limb girdle muscular dystrophy type 2B (LGMD2B). Dysferlin is a sarcolemmal protein that is implicated in calcium-dependent membrane repair. Affixin (beta-parvin) is a novel, integrin-linked kinase-binding protein that is involved in the linkage between integrin and the cytoskeleton.
Chie, Matsuda +8 more
openaire +2 more sources
Pharmacotherapeutic Approaches to Treatment of Muscular Dystrophies
Biomolecules, 2023 Muscular dystrophies are a heterogeneous group of genetic muscle-wasting disorders that are subdivided based on the region of the body impacted by muscle weakness as well as the functional activity of the underlying genetic mutations. A common feature of
Alan Rawls +5 more
doaj +1 more source
Mapping the omics landscape for peri‐implant diseases: A scoping review
Periodontology 2000, EarlyView.Abstract Objectives To map omics evidence across peri‐implant health, peri‐implant mucositis, and peri‐implantitis, and to identify recurring molecular patterns and candidate biomarker signals relevant to diagnosis, monitoring, and treatment. Materials and Methods This scoping review included human studies using genomics, DNA methylation–based ...
Ethan Ng +5 more
wiley +1 more source
Characterization of FER1L5, a novel dysferlin myoferlin related protein [PDF]
, 2009 The ferlins are mammalian homologues of the C-elegans sperm vesicle fusion protein FER-1 characterised by multiple C2 domains and a C-terminal anchor.
Ramachandran, Usha Kalyani
core
, 2019 Dysferlinopathies are a form of muscular dystrophy caused by gene mutations resulting in deficiency of the protein dysferlin. Symptoms manifest later in life in a muscle specific manner, although the pathomechanism is not well understood.
Gavin J. Pinniger (455311) +9 more
core +1 more source
Frontiers in Neuroscience, 2022 BackgroundTo characterize the phenotypic, neurophysiological, radiological, pathological, and genetic profile of 33 Saudi Arabian families with dysferlinopathy.MethodsA descriptive observational study was done on a cohort of 112 Saudi Arabian families ...
Norah Alharbi +10 more
doaj +1 more source