Results 91 to 100 of about 1,067 (171)

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

Multiple isogenic GNE-myopathy modeling with mutation specific phenotypes from human pluripotent stem cells by base editors

, 2022
Despite the great potential of disease modeling using human pluripotent stem cells (hPSCs) derived from patients with mutations, lack of an appropriate isogenic control hinders a precise phenotypic comparison due to the bias arising from the dissimilar ...
Kim, Keun-Tae, Moon, Sung-Hwan, Cha, Hyuk-Jin, Park, Seokwoo, Lee, Hyun Sik, Park, Soon-Jung, Bae, Sangsu, Kim, Jumee, Park, Ju-Chan, Choi, Hyewon, Park, Seung-Yeol, Choi, Hee-Jung, Jang, Hyun-Ki, Kwon, Eun-Ji, Lee, Seung-Yeon   +14 more
core   +1 more source

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

Molecular diagnosis of hereditary inclusion body myopathy by linkage analysis and identification of a novel splice site mutation in GNE

BMC Medical Genetics, 2011
Background Many myopathies share clinical features in common, and diagnosis often requires genetic testing. We ascertained a family in which five siblings presented with distal muscle weakness of unknown etiology.
Mahoney Lane J, Lidov Hart GW, Estrella Elicia A, Duncan Anna R, Boyden Steven E, Katz Jonathan S, Kunkel Louis M, Kang Peter B   +7 more
doaj   +1 more source

Myopathie GNE [PDF]

médecine/sciences, 2015
J. Andoni Urtizberea, Anthony Béhin
openaire   +1 more source

Mutational spectrum and clinical features in 35 unrelated mainland Chinese patients with GNE myopathy

, 2015
GNE myopathy is an autosomal recessive distal myopathy caused by biallelic mutation in the GNE gene. It shows great genetic heterogeneity among different ethnic groups.
Hong, Daojun, Yuan, Yun, Zhang, Wei, Chen, Juanjuan, Zhao, Juan, Lv, He, Wang, Zhaoxia   +6 more
core   +1 more source

Insights into muscle degeneration from heritable inclusion body myopathies

Frontiers in Aging Neuroscience, 2015
Muscle mass and function is gradually lost in age-related, degenerative neuromuscular disorders which also reflect the clinical hallmarks of sarcopenia.
Sabine eKrause
doaj   +1 more source

Immunoblots of AβPP and p-tau in control and GNE myopathy muscle biopsies.

, 2013
A: Immunoblots of muscle homogenates of two normal control and five GNE myopathy muscle biopsies demonstrate in GNE myopathy a much stronger expression of AβPP and p-tau as compared to control muscle biopsies.
Shuping Liu (385280), Wei Li (7081), Chuanzhu Yan (385282), Xuemei Zhang (89768), Fuchen Liu (385279), Qi Chen (144168), Yuying Zhao (385281), Honghao Li (385278), Yaoqin Gong (164943)   +8 more
core   +1 more source