Results 81 to 90 of about 5,143 (201)
Advanced Science, Volume 13, Issue 9, 13 February 2026.This study identifies Membralin as an ER‐phagy receptor that recruits MAN1B1 and VCP to form a selective ERLAD complex. By sensing dense N‐glycan clusters on viral fusion glycoproteins, this ubiquitin‐independent pathway directs SARS‐CoV‐2 spike, Ebola GP, influenza HA, and HIV‐1 Env to lysosomal degradation, thereby limiting viral infectivity ...
Jing Zhang +5 more
wiley +1 more source
Dysferlin‐deficient muscular dystrophy and innate immune activation [PDF]
The FEBS Journal, 2013 Cells encounter many physical, chemical and biological stresses that perturb plasma membrane integrity, warranting an immediate membrane repair response to regain cell homeostasis. Failure to respond properly to such perturbation leads to individual cell death, which may also produce systemic influence by triggering sterile immunological responses.
Andrew, Mariano +2 more
openaire +2 more sources
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 +10 more
doaj +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 +2 more
doaj +1 more source
Skeletal Muscle, 2022 Limb-girdle muscular dystrophy (MD) type 2B (LGMD2B) and Duchenne MD (DMD) are caused by mutations to the Dysferlin and Dystrophin genes, respectively. We have recently demonstrated in typically mild dysferlin- and dystrophin-deficient mouse models that ...
Zoe White +8 more
doaj +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 +10 more
core +1 more source
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
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 +8 more
wiley +1 more source
Physiological Reports, 2023 Muscular dystrophy (MD) is a genetic disorder that causes progressive muscle weakness and degeneration. Limb‐girdle muscular dystrophy (LGMD) is a type of MD that mainly causes muscle atrophy within the shoulder and pelvic girdles.
Yen‐Lin Chen +6 more
doaj +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 +13 more
core +1 more source