Results 121 to 130 of about 4,634 (224)

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

Full length TECPR1 displays ‘cis’ Dysferlin domain architecture

bioRxiv
Tectonin Beta-Propeller Repeat containing 1 (TECPR1) is an essential regulator of a noncanonical autophagy pathway known as Sphingomyelin TECPR1 induced LC3 lipidation (STIL). TECPR1 forms an E3-like ligase complex and recognizes exposed sphingomyelin on
Ernest Okertchiri, J. Miles, C. K. Cassidy, Adam L. Yokom, Adam Lee   +4 more
semanticscholar   +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, Tomoko Nagino, Katsunori Sasa, Tatsuo Oikawa, Katsuya Miyake, Akiko Kume, Mikiko Fukuda, Hiromitsu Fuse, Ryuichi Tozawa, Hidetoshi Sakurai   +9 more
doaj   +1 more source

Duchenne muscular dystrophy: A immunohistochemical profile and deletion pattern in dystrophin gene in North Indian population

Asian Journal of Medical Sciences, 2017
Background: Duchenne muscular dystrophy (DMD), one of the most common X linked muscular disorder, affecting 1 in 3500 male births and is caused by mutation in dystrophin gene. 65% of DMD cases are caused by large deletion of dystrophin gene, followed by
Rachna Agarwal
doaj   +1 more source

Muscle Cathepsin B Treatment Improves Behavioral and Neurogenic Deficits in a Mouse Model of Alzheimer's Disease

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, Hazal Haytural, Cássio Morais Loss, Claudia Alvarez, Asude Ertas, Olivia Curtis, Alyssa R. Williams, Grayson Murphy, Kenneth J. Salleng, Sylvia Gografe, Nishant P. Visavadiya, Andy V. Khamoui, Ali Altıntaş, Tal Kafri, Romain Barres, Atul S. Deshmukh, Henriette van Praag   +16 more
wiley   +1 more source

The Dysferlin Domain-Only Protein, Spo73, Is Required for Prospore Membrane Extension in Saccharomyces cerevisiae

mSphere, 2016
Sporulation of Saccharomyces cerevisiae is a developmental process in which an ascus containing four haploid spores forms from a diploid cell. During this process, newly formed membrane structures called prospore membranes extend along the nuclear ...
Yuuya Okumura, Tsuyoshi S. Nakamura, Takayuki Tanaka, Ichiro Inoue, Yasuyuki Suda, Tetsuo Takahashi, Hideki Nakanishi, Shugo Nakamura, Xiao-Dong Gao, Hiroyuki Tachikawa   +9 more
doaj   +1 more source

Developmental and tissue-specific regulation of a novel dysferlin isoform [PDF]

, 2004
Dysferlin plays an essential role in the muscle repair machinery, and its deficiency is associated with limb-girdle muscular dystrophy type 2B and with two different distal myopathies (Miyoshi myopathy and distal anterior compartment myopathy).
F. Locatelli, S.P. Corti, N. Bresolin, S. Lucchiari, P. Bossolasco, G.P. Comi, S. Salani, M. Crimi, F.R. Fortunato   +8 more
core   +1 more source

Dysferlin complexes with alpha-tubulin. [PDF]

, 2013
A. GST, GST-TubA4A and GST-TubA1B fusion proteins immobilized onto glutathione-Sepharose 4B beads were incubated with mouse skeletal muscle homogenate. GST, GST-TubA4A or GST-TubA1B with adsorbed proteins from mouse skeletal muscle were resolved by SDS ...
Bilal A. Azakir (192892), Christian Therrien (192897), Michael Sinnreich (192902), Sabrina Di Fulvio (192887)   +3 more
core   +1 more source

Schematic model of dysferlin protein. [PDF]

, 2013
(A) We propose dysferlin forms a parallel homodimer through physical interactions of domains C2B to C2G and the transmembrane domains. The domains are color-coded according to measured dissociation constants to indicate the relative contribution of each ...
Sandeep Pallikkuth (339527), Zhanjia Hou (316171), Seth L. Robia (316175), Gregory A. Mignery (339528), Renzhi Han (276195), Li Xu (108702)   +5 more
core   +1 more source

Increased nonHDL cholesterol levels cause muscle wasting and ambulatory dysfunction in the mouse model of LGMD2B

Journal of Lipid Research, 2018
Progressive limb and girdle muscle atrophy leading to loss of ambulation is a hallmark of dysferlinopathies, which include limb-girdle muscular dystrophy type 2B and Miyoshi myopathy.
Stephanie L. Sellers, Nadia Milad, Zoe White, Chris Pascoe, Rayleigh Chan, Geoffrey W. Payne, Chun Seow, Fabio Rossi, Michael A. Seidman, Pascal Bernatchez   +9 more
doaj   +1 more source