Results 91 to 100 of about 3,769 (195)

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

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, M. T. Altieri, M. T. Rodia, R. Costa, F. Frabetti, G. Cenacchi, G. Sabbioni, M. Borgatti   +7 more
wiley   +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

Nanodysferlins support membrane repair and binding to TRIM72/MG53 but do not localize to t-tubules or stabilize Ca2+ signaling

Molecular Therapy: Methods & Clinical Development
Mutations in the DYSF gene, encoding the protein dysferlin, lead to several forms of muscular dystrophy. In healthy skeletal muscle, dysferlin concentrates in the transverse tubules and is involved in repairing the sarcolemma and stabilizing Ca2 ...
Joaquin Muriel, Valeriy Lukyanenko, Thomas A. Kwiatkowski, Yi Li, Sayak Bhattacharya, Kassidy K. Banford, Daniel Garman, Hannah R. Bulgart, Roger B. Sutton, Noah Weisleder, Robert J. Bloch   +10 more
doaj   +1 more source

Dysferlin deficiency alters lipid metabolism and remodels the skeletal muscle lipidome in mice

Journal of Lipid Research, 2019
Defects in the gene coding for dysferlin, a membrane-associated protein, affect many tissues, including skeletal muscles, with a resultant myopathy called dysferlinopathy.
Vanessa R. Haynes, Stacey N. Keenan, Jackie Bayliss, Erin M. Lloyd, Peter J. Meikle, Miranda D. Grounds, Matthew J. Watt   +6 more
doaj   +1 more source

Angiotensin II receptor blocker losartan exacerbates muscle damage and exhibits weak blood pressure-lowering activity in a dysferlin-null model of Limb-Girdle muscular dystrophy type 2B.

PLoS ONE, 2019
There is no cure or beneficial management option for Limb-Girdle muscular dystrophy (MD) type 2B (LGMD2B). Losartan, a blood pressure (BP) lowering angiotensin II (AngII) receptor type 1 (ATR1) blocker (ARB) with unique anti-transforming growth factor-β (
Zoe White, Nadia Milad, Arash Y Tehrani, William Wei-Han Chen, Graham Donen, Stephanie L Sellers, Pascal Bernatchez   +6 more
doaj   +1 more source

Targeted Myostatin Gene Editing in Multiple Mammalian Species Directed by a Single Pair of TALE Nucleases

Molecular Therapy: Nucleic Acids, 2013
Myostatin (MSTN) is a negative regulator of skeletal muscle mass. Strategies to block myostatin signaling pathway have been extensively pursued to increase muscle mass in various disease settings including muscular dystrophy.
Li Xu, Piming Zhao, Andrew Mariano, Renzhi Han   +3 more
doaj   +1 more source

Dysferlin [PDF]

, 2020
openaire   +1 more source