Results 101 to 110 of about 6,430 (245)

Plasmid-Mediated Gene Therapy in Mouse Models of Limb Girdle Muscular Dystrophy

Molecular Therapy: Methods & Clinical Development, 2019
We delivered plasmid DNA encoding therapeutic genes to the muscles of mouse models of limb girdle muscular dystrophy (LGMD) 2A, 2B, and 2D, deficient in calpain3, dysferlin, and alpha-sarcoglycan, respectively.
Tuhin K. Guha, Christophe Pichavant, Michele P. Calos   +2 more
doaj   +1 more source

Apolipoprotein E knockout, but not cholesteryl ester transfer protein (CETP)-associated high-density lipoprotein cholesterol (HDL-C) lowering, exacerbates muscle wasting in dysferlin-null mice

Lipids in Health and Disease
Dysferlin-deficient limb-girdle muscular dystrophy type 2B (Dysf) mice are notorious for their mild phenotype. Raising plasma total cholesterol (CHOL) via apolipoprotein E (ApoE) knockout (KO) drastically exacerbates muscle wasting in Dysf mice. However,
Zeren Sun, Z. White, M. Théret, Pascal Bernatchez   +3 more
semanticscholar   +1 more source

Dysferlin facilitates the de novo biogenesis of tubular membranes in hypertrophic remodelling

European Heart Journal, 2022
Ferlins are transmembrane proteins with multiple C2 domains that may mediate Ca2+ dependent membrane fusion and repair events. In ventricles, Dysferlin expression is dominant, and patient mutations have been associated with cardiomyopathies. Hence,
N. Paulke, S. Amlaz, C. Fleischhacker, T. Kohl, D. Kownatzki-Danger, G. Hasenfuss, S. Lehnart, S. Brandenburg   +7 more
semanticscholar   +1 more source

Atypical Phenotype in Two Patients with LAMA2 Mutations [PDF]

, 2014
Congenital muscular dystrophy type 1A is caused by mutations in the LAMA2 gene, which encodes the a2-chain of laminin. We report two patients with partial laminin-a2 deficiency and atypical phenotypes, one with almost exclusive central nervous system ...
Bronze-da-Rocha, E, Calado, E, Costa, S, Duarte, S, Evangelista, T, Jacinto, S, Marques, J, Oliveira, J, Oliveira, M, Santos, R, Silvestre, AR   +10 more
core   +1 more source

Exon Skipping in a Dysf-Missense Mutant Mouse Model

Molecular Therapy: Nucleic Acids, 2018
Limb girdle muscular dystrophy 2B (LGMD2B) is without treatment and caused by mutations in the dysferlin gene (DYSF). One-third is missense mutations leading to dysferlin aggregation and amyloid formation, in addition to defects in sarcolemmal repair and
Jakub Malcher, Leonie Heidt, Aurélie Goyenvalle, Helena Escobar, Andreas Marg, Cyriaque Beley, Rachid Benchaouir, Michael Bader, Simone Spuler, Luis García, Verena Schöwel   +10 more
doaj   +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, Brocard, Julie, Denarier, Eric, Fauré, Julien, Fourest-Lieuvin, Anne, Garcia, Luis, Gilbert-Dussardier, Brigitte, Lunardi, Joël, Marty, Isabelle, Monnier, Nicole, Perez, Marie José, Piétri-Rouxel, France, Rendu, John, Romero, Norma, Roux-Buisson, Nathalie   +14 more
core   +3 more sources

Are Muscular Dystrophies Cholesterol‐Handling Diseases? Lessons From HMGCR Variants and Statin‐Associated Myopathies

JCSM Communications, Volume 9, Issue 1, January/June 2026.
ABSTRACT Background Muscular dystrophies (MD) are a genetically diverse group of muscle disorders, many of which arise from mutations in genes encoding components of the sarcolemma dystrophin‐associated glycoprotein complex (DGC). Despite their notorious heterogeneity, MDs consistently lead to chronic myofiber weakening, necrosis and loss of muscle ...
Yejin Kang, Pascal Bernatchez
wiley   +1 more source

Dysferlin at transverse tubules regulates Ca2+ homeostasis in skeletal muscle

Frontiers in Physiology, 2014
The class of muscular dystrophies linked to the genetic ablation or mutation of dysferlin, including Limb Girdle Muscular Dystrophy 2B (LGMD2B) and Miyoshi Myopathy (MM), are late-onset degenerative diseases.
Jaclyn P. Kerr, Christopher W. Ward, Robert J. Bloch   +2 more
doaj   +1 more source

Methylation Landscapes of Cartilage in Hip Osteoarthritis

Genetics Research , Volume 2026, Issue 1, 2026.
Objective To elucidate different methylation landscapes between cartilage of femoral neck fracture and preserved and damaged cartilages in hip osteoarthritis (OA). Methods Genome‐wide DNA methylation data were acquired from two data sets in GEO database (GSE63106 and GSE63695), which were based on Illumina HumanMethylation450 BeadChip arrays.
Ruiyang Jiang, Maochun Wang, Guihua Tan, Jie Lv, Xiaoyu Jin, Yuan Liu, Rui Wu, Dongquan Shi, Yingkun Xu   +8 more
wiley   +1 more source

Murine obscurin and Obsl1 have functionally redundant roles in sarcolemmal integrity, sarcoplasmic reticulum organization, and muscle metabolism. [PDF]

, 2019
Biological roles of obscurin and its close homolog Obsl1 (obscurin-like 1) have been enigmatic. While obscurin is highly expressed in striated muscles, Obsl1 is found ubiquitously.
Blondelle, Jordan, Bremner, Shannon, Clark, Madison, Desmond, Patrick, Estève, Eric, Ghassemian, Majid, Lange, Stephan, Marrocco, Valeria, Myers, Stephanie, Nguyen, Jim, Pierantozzi, Enrico, Sorrentino, Vincenzo, Ward, Samuel, Wright, Matthew   +13 more
core   +1 more source