Results 101 to 110 of about 1,629 (185)

Impaired myoblast differentiation and muscle IGF‐1 receptor signaling pathway activation after N‐glycosylation inhibition

The FASEB Journal, Volume 38, Issue 13, 15 July 2024.
N‐glycosylation inhibitions by Tunicamycin (TUN) or by knockdown of phosphomannomutase 2 (PMM2) gene block the C2C12 myoblast fusion and impair the myogenic program. TUN treatment decreased myogenic markers and increased atrophy markers in muscles of WT and MLC/mIgf‐1 mice, which overexpress muscle Igf‐1Ea mRNA isoform.
Giosuè Annibalini, Laura Di Patria, Giacomo Valli, Matteo Bocconcelli, Roberta Saltarelli, Lorenzo Ferri, Laura Barberi, Fabiana Fanelli, Amelia Morrone, Rita Barone, Renzo Guerrini, Antonio Musarò, Vilberto Stocchi, Elena Barbieri   +13 more
wiley   +1 more source

Sialic acid supplementation therapy for distal myopathy with rimmed vacuoles (GNE myopathy)

Rinsho Shinkeigaku, 2012
Distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy, for which new nomenclature "GNE myopathy" is now proposed, is an autosomal recessive disease that preferentially affects tibialis anterior and hamstrings muscles in young adults.
Ichizo, Nishino, Satoru, Noguchi
openaire   +3 more sources

GNE Myopathy with Congenital Thrombocytopenia [PDF]

, 2018
GNE myopathy is a distal dominant myopathy with characteristic sparing of quadriceps, which is known to be caused by mutation of the GNE gene. Recently, there were some reports of thrombocytopenia that concurred with GNE myopathy.
김세훈, 신하영, 이정환, 최영철, 허준녕   +4 more
core  

Hydroxyethylamine & phthalimide analogs restoring defects due to GNE dysfunction: rare disease therapeutic significance

Molecular Medicine
Rare diseases refer to a group of neglected diseases with low prevalence that face challenges in diagnostics as well as therapeutics due to phenotypic heterogeneity and ineffective clinical trials.
Shagun Singh, Meenakshi Bansal, Neha Sharma, Vikas Yadav, Fluencephila Mashangva, Jyoti Oswalia, Vaishali Gautam, Gagan Deep Jhingan, Naidu Subbarao, Brijesh Rathi, Ranjana Arya   +10 more
doaj   +1 more source

Effect of sirolimus on muscle in inclusion body myositis observed with magnetic resonance imaging and spectroscopy

Journal of Cachexia, Sarcopenia and Muscle, Volume 15, Issue 3, Page 1108-1120, June 2024.
Abstract Background Finding sensitive clinical outcome measures has become crucial in natural history studies and therapeutic trials of neuromuscular disorders. Here, we focus on 1‐year longitudinal data from quantitative magnetic resonance imaging (MRI) and phosphorus magnetic resonance spectroscopy (31P MRS) in a placebo‐controlled study of sirolimus
Harmen Reyngoudt, Pierre‐Yves Baudin, Ericky Caldas de Almeida Araújo, Damien Bachasson, Jean‐Marc Boisserie, Kubéraka Mariampillai, Mélanie Annoussamy, Yves Allenbach, Jean‐Yves Hogrel, Pierre G. Carlier, Benjamin Marty, Olivier Benveniste   +11 more
wiley   +1 more source

Human induced pluripotent stem cell line (FDHSi005-A) derived from a patient with a deep intronic variant in the GNE gene

Stem Cell Research
GlcNAc2-epimerase myopathy is a rare autosomal recessive myopathy characterized by distal involvement in the lower extremities. Our study reprogrammed human-induced pluripotent stem cells from peripheral blood mononuclear cells of a patient with GNE gene
Kexin Jiao, Jialong Zhang, Ningning Wang, Xingyu Gu, Xuechun Chang, Xingyu Xia, Bochen Zhu, Mingshi Gao, Nachuan Cheng, Chongbo Zhao, Jianying Xi, Wenhua Zhu   +11 more
doaj   +1 more source

An Update on Reported Variants in the Skeletal Muscle α‐Actin (ACTA1) Gene

Human Mutation, Volume 2024, Issue 1, 2024.
The ACTA1 gene encodes skeletal muscle alpha‐actin, which forms the core of the sarcomeric thin filament in adult skeletal muscle. ACTA1 represents one of six highly conserved actin proteins that have all been associated with human disease. The first 15 pathogenic variants in ACTA1 were reported in 1999, which expanded to 177 in 2009.
Joshua S. Clayton, Mridul Johari, Rhonda L. Taylor, Lein Dofash, Georgina Allan, Gavin Monahan, Peter J. Houweling, Gianina Ravenscroft, Nigel G. Laing, Aziz ur Rehman Aziz   +9 more
wiley   +1 more source

A Novel Autosomal Dominant Inclusion Body Myopathy Linked to 7q22.1-31.1 [PDF]

, 2012
We describe a novel autosomal dominant hereditary inclusion body myopathy (HIBM) that clinically mimics limb girdle muscular dystrophy in a Chinese family. We performed a detailed clinical assessment of 36 individuals spanning four generations.
A Starling, CA Saavedra-Matiz, CC Weihl, CM Jay, Feng Zhang, GD Watts, GR Abecasis, I Eisenberg, I Eisenberg, I Nishino, I Nonaka, Jianping Jia, JM Gilchrist, JR O’Connell, Jun Yu, LG Goldfarb, MA Hauser, MB Harms, Meng Zhang, Min Wang, MJ Kovach, N Darin, P Hackman, P Salmikangas, PJ Jongen, S Sandell, SH Horowitz, T Martinsson, T Martinsson, Tetsuo Ashizawa, Xin Li, Xingang Li, Y Motozaki, Yan Lu, Yun Li, Yuwei Da, Z Argov, Z Argov, Z Argov   +38 more
core   +3 more sources

A novel missense mutation in the GNE gene in an Iranian patient with hereditary inclusion body myopathy

Journal of Research in Medical Sciences, 2014
Hereditary inclusion body myopathy (hIBM) is an adult-onset hereditary myopathy, usually with distal onset and quadriceps sparing. This myopathy is autosomal recessive and associated to UPD-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (GNE)
Mahdiyeh Behnam, Shin Jin-Hong, Dae-Seong Kim, Keivan Basiri, Yalda Nilipour, Maryam Sedghi   +5 more
doaj  

Gne-Depletion in C2C12 Myoblasts Leads to Alterations in Glycosylation and Myopathogene Expression

Cells
GNE myopathy is a rare genetic neuromuscular disorder caused by mutations in the GNE gene. The respective gene product, UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE), is a bifunctional enzyme that initiates endogenous sialic acid ...
Carolin T. Neu, Aristotelis Antonopoulos, Anne Dell, Stuart M. Haslam, Rüdiger Horstkorte   +4 more
doaj   +1 more source