Results 111 to 120 of about 4,634 (224)

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

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

RUNX2 Activation in Fibro/Adipogenic Progenitors Promotes Muscle Fibrosis in Muscular Dystrophy

Advanced Science, Volume 13, Issue 13, 3 March 2026.
This study revealed a novel role of the chemokine‐TGF‐β1‐RUNX2 axis in determining the fate of FAP differentiation and modulating muscle fibrosis in patients and mice with muscular dystrophies. ABSTRACT Clinical evidence indicates concurrent muscle inflammation and fibrosis in muscular dystrophies (MDs); however, the molecular mechanisms underlying ...
Pengkai Wu, Zehua Zhang, Kai Zheng, Ziqi Zhu, Yong Zhu, Abdukahar Kiram, Lei Zhao, Huihui Chen, Zhu Xu, Xihua Li, Beicheng Sun, Zhijian Li, Dengqiu Xu   +12 more
wiley   +1 more source

Genomics Insights Into High‐Latitude Adaptation of Tibetan Macaques

Advanced Science, Volume 13, Issue 14, 9 March 2026.
Tibetan macaques exhibit unique adaptations to cold, high‐latitude environments, including shortened tails and enhanced fat storage. Genomic analyses reveal a species‐specific TBX6 mutation linked to tail reduction and selection on lipid metabolism genes.
Rusong Zhang, Ying Hu, Yang Teng, Jiwei Qi, Yangzhen Ciren, Lin Zhang, Qiao Du, Wencai Xu, Liang Zhou, Zhenxin Fan, Jinchuan Xing, Ming Li, Jing Li   +12 more
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

Membralin Assembles a MAN1B1–VCP Complex to Target Foreign Glycoproteins from the Endoplasmic Reticulum to Lysosomes for Degradation

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, Xiaoran Lu, Sunan Li, Tao Wang, Iqbal Ahmad, Yong‐Hui Zheng   +5 more
wiley   +1 more source

Immunoblot validation and characterization of dysferlin. [PDF]

, 2014
A) Western blot of several proteins that were increased or decreased in DBA patients including dysferlin (DYSF), gamma-adducin (ADD3), major vault protein (MVP), serine palmitoyltransferase 1 and 2 (SPTLC1 and SPTLC2), HLA-ABC, and intercellular adhesion
Monica Bessler (508914), Hsin-Yao Tang (395357), David W. Speicher (395361), Sira Sriswasdi (42545), Esther N. Pesciotta (508912), Philip J. Mason (508913)   +5 more
core   +1 more source

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 Exon 32 Skipping in Patient Cells [PDF]

, 2018
Dysferlinopathies are rare genetic diseases affecting muscles due to mutations in DYSF. Exon 32 of DYSF has been shown to be dispensable for dysferlin functions. Here we present a method to visualize the skipping of exon 32 at the RNA and protein levels using an antisense oligonucleotide on cells derived from a dysferlinopathy-affected patient.
Barthelemy, Florian, Courrier, Sebastien, Lévy, Nicolas, Krahn, Martin, Bartoli, Marc   +4 more
openaire   +3 more sources

Differential diagnoses of inflammatory myopathies with positive biopsy for dysferlin

Arquivos de Neuro-Psiquiatria
Case presentation: A 24-year-old male presented with a four-year history of progressive proximal lower limb weakness and gait difficulty. He had previously been active and engaged in high-impact exercise, but he had discontinued exercise and gained ...
Ana Luísa Vilela Sá Fortes, Maria Clara Motta Barbosa Valente, Fernando Pierini Costa, Mariana Tonon Giovannone, Vanessa Moraes Rossette, Ana Paula de Almeida Campos, E. Zanoteli, André Macedo   +7 more
semanticscholar   +1 more source