Results 91 to 100 of about 5,143 (201)
A Multiancestral Genome-Wide Exome Array Study of Alzheimer Disease, Frontotemporal Dementia, and Progressive Supranuclear Palsy [PDF]
, 2015 Importance Previous studies have indicated a heritable component of the etiology of neurodegenerative diseases such as Alzheimer disease (AD), frontotemporal dementia (FTD), and progressive supranuclear palsy (PSP).
Beekly, Duane L. +34 more
core +2 more sources
GREG cells, a dysferlin-deficient myogenic mouse cell line [PDF]
Experimental Cell Research, 2012 The dysferlinopathies (e.g. LGMD2b, Myoshi myopathy) are progressive, adult-onset muscle wasting syndromes caused by mutations in the gene coding for dysferlin. Dysferlin is a large (~200kDa) membrane-anchored protein, required for maintenance of plasmalemmal integrity in muscle fibers.
Humphrey, Glen W +6 more
openaire +3 more sources
Aging Cell, Volume 24, Issue 11, November 2025.Targeting muscle with Cathepsin B (Ctsb) to treat the AD mouse brain. In this study, an AAV‐vector‐mediated approach, utilized to express Ctsb in muscle, prevented mnemonic and neurogenic deficits and normalized hippocampal, muscle, and plasma proteomic profiles.
Alejandro Pinto +16 more
wiley +1 more source
Exon skipping as a therapeutic strategy applied to an RYR1 mutation with pseudo-exon inclusion causing a severe core myopathy. [PDF]
, 2013 International audienceCentral core disease is a myopathy often arising from mutations in the type 1 ryanodine receptor (RYR1) gene, encoding the sarcoplasmic reticulum calcium release channel RyR1. No treatment is currently available for this disease. We
Beley, Cyriaque +14 more
core +3 more sources
Dysferlin-mediated phosphatidylserine sorting engages macrophages in sarcolemma repair [PDF]
Nature Communications, 2016 Abstract Failure to repair the sarcolemma leads to muscle cell death, depletion of stem cells and myopathy. Hence, membrane lesions are instantly sealed by a repair patch consisting of lipids and proteins. It has remained elusive how this patch is removed to restore cell membrane integrity.
Volker Middel +10 more
openaire +6 more sources
MyomiRs Expression in Limb Girdle Muscular Dystrophy
IUBMB Life, Volume 77, Issue 10, October 2025.ABSTRACT This manuscript is a comprehensive review focused on the role of microRNAs (miRs)—short RNA molecules—in Limb Girdle Muscular Dystrophy (LGMD). LGMD encompasses various and heterogeneous rare genetic neuromuscular diseases, characterized by the progressive wasting and deterioration of muscle fibers, predominantly affecting the pelvic and ...
G. Breveglieri +7 more
wiley +1 more source
Statistical Test of Expression Pattern (STEPath): a new strategy to integrate gene expression data with genomic information in individual and meta-analysis studies [PDF]
, 2011 Background In the last decades, microarray technology has spread, leading to a dramatic increase of publicly available datasets. The first statistical tools developed were focused on the identification of significant differentially expressed genes. Later,
Paolo Martini +5 more
core +1 more source
Caveolin Regulates Endocytosis of the Muscle Repair Protein, Dysferlin [PDF]
Journal of Biological Chemistry, 2008 Dysferlin and Caveolin-3 are plasma membrane proteins associated with muscular dystrophy. Patients with mutations in the CAV3 gene show dysferlin mislocalization in muscle cells. By utilizing caveolin-null cells, expression of caveolin mutants, and different mutants of dysferlin, we have dissected the site of action of caveolin with respect to ...
Hernandez-Deviez, D. J. +5 more
openaire +3 more sources
The Journal of Physiology, Volume 603, Issue 19, Page 5273-5297, October 1, 2025.Abstract figure legend Fibro/adipogenic progenitors (FAPs) are cells resident in the muscle (skeletal and cardiac) niche. FAPs are active participants in the process of muscle degeneration in cardiovascular and neuromuscular diseases. Here, the accumulation of fatty and fibrous tissue is a hallmark.
Elisa Villalobos +2 more
wiley +1 more source
Phenotypic Drug Screening for Dysferlinopathy Using Patient‐Derived Induced Pluripotent Stem Cells
Stem Cells Translational Medicine, 2019 Dysferlinopathy is a progressive muscle disorder that includes limb‐girdle muscular dystrophy type 2B and Miyoshi myopathy (MM). It is caused by mutations in the dysferlin (DYSF) gene, whose function is to reseal the muscular membrane.
Yuko Kokubu +9 more
doaj +1 more source