Results 61 to 70 of about 1,995 (205)

A novel mutation in GNE gene: clinical characteristics and bioinformatics analysis

Chinese Journal of Contemporary Neurology and Neurosurgery, 2018
Objective To report and summarize clinical phenotype and genotype characteristics in a patient with GNE myopathy, and to extend mutation spectrum of GNE gene.
Liang WANG, Ya-qin LI, Hui-li ZHANG, Yu-ling ZHU, Ruo-jie HE, Huan LI, Jin-fu LIN, Cheng ZHANG   +7 more
doaj   +1 more source

Combined sequence and copy number analysis improves diagnosis of limb girdle and other myopathies

Annals of Clinical and Translational Neurology, Volume 10, Issue 11, Page 2092-2104, November 2023., 2023
Abstract Objective Clinical and genetic heterogeneities make diagnosis of limb‐girdle muscular dystrophy (LGMD) and other overlapping disorders of muscle weakness complicated and expensive. We aimed to develop a comprehensive next generation sequence‐based multi‐gene panel (“The Lantern Focused Neuromuscular Panel”) to detect both sequence variants and
Babi R. R. Nallamilli, Yinghong Pan, Lisa Sniderman King, Lakshmanan Jagannathan, Vinish Ramachander, Ann Lucas, Jan Markind, Raffaella Colzani, Madhuri Hegde   +8 more
wiley   +1 more source

Increasing brain N‐acetylneuraminic acid alleviates hydrocephalus‐induced neurological deficits

CNS Neuroscience &Therapeutics, Volume 29, Issue 11, Page 3183-3198, November 2023., 2023
Cerebrospinal fluid levels of N‐acetylneuraminic acid (Neu5Ac) decrease in patients with normal pressure hydrocephalus (NPH). Neu5Ac levels are also inversely correlated with severity‐related clinical parameters of NPH. Increasing brain Neu5Ac by N‐acetylmannosamine alleviates the hydrocephalus‐induced neurological deficits in mice, which associates ...
Zhangyang Wang, Xiaoqun Nie, Fang Gao, Yanmin Tang, Yuanyuan Ma, Yiying Zhang, Yanqin Gao, Chen Yang, Jing Ding, Xin Wang   +9 more
wiley   +1 more source

Dissecting role of founder mutation p.V727M in GNE in Indian HIBM cohort

Open Medicine, 2021
GNE gene-specific c.2179G>A(p.V727M) is a key alteration reported in patients with hereditary inclusion body myopathy (HIBM) and represents an ethnic founder mutation in the Indian cohort.
Attri Shivangi, Sharma Vikas, Kumar Amit, Verma Chaitenya, Gahlawat Suresh Kumar   +4 more
doaj   +1 more source

Amyloid deposits and inflammatory infiltrates in sporadic inclusion body myositis: the inflammatory egg comes before the degenerative chicken [PDF]

, 2015
International ...
Baziel G. M. van Engelen, David Hilton-Jones, Marco Sandri, Olivier Benveniste, Olivier Boyer, Werner Stenzel   +5 more
core   +3 more sources

Non‐specific accumulation of glycosphingolipids in GNE myopathy [PDF]

Journal of Inherited Metabolic Disease, 2013
AbstractBackgroundUDP‐GlcNAc 2‐epimerase/ManNAc 6‐kinase (GNE) is a bifunctional enzyme responsible for the first committed steps in the synthesis of sialic acid, a common terminal monosaccharide in both protein and lipid glycosylation. GNE mutations are responsible for a rare autosomal recessive neuromuscular disorder, GNE myopathy (also called ...
Patzel, Katherine A., Yardeni, Tal, Le Poëc-Celic, Erell, Leoyklang, Petcharat, Dorward, Heidi, Alonzi, Dominic S., Kukushkin, Nikolay V., Xu, Bixue, Zhang, Yongmin, Sollogoub, Matthieu, Blériot, Yves, Gahl, William A., Huizing, Marjan, Butters, Terry D.   +13 more
openaire   +3 more sources

Novel HSPB1 mutation causes both motor neuronopathy and distal myopathy. [PDF]

, 2016
OBJECTIVE: To identify the cause of isolated distal weakness in a family with both neuropathic and myopathic features on EMG and muscle histology. METHODS: Case study with exome sequencing in 2 affected individuals, bioinformatic prioritization of ...
Birchall, D, Chinnery, PF, Duff, J, Griffin, H, Horvath, R, Lewis-Smith, DJ, Polvikoski, T, Pyle, A   +7 more
core   +2 more sources

Effects of altered sialic acid biosynthesis on N-linked glycan branching and cell surface interactions [PDF]

, 2017
GNE myopathy is a rare muscle disorder associated with aging and is related to sporadic inclusion body myositis (sIBM), the most common acquired muscle disease of aging. While the cause of sIBM is unknown, GNE myopathy is associated with mutations in UDP-
Dell, A, Grassi, P, Haslam, SM, Kohler, JJ, Krishnamurthy, S, Pang, P-C, Pham, ND, Wands, AM   +7 more
core   +1 more source

Disrupted autophagy undermines skeletal muscle adaptation and integrity [PDF]

, 2016
This review assesses the importance of proteostasis in skeletal muscle maintenance with a specific emphasis on autophagy. Skeletal muscle appears to be particularly vulnerable to genetic defects in basal and induced autophagy, indicating that autophagy ...
A Amalfitano, A Hishiya, A Kihara, A Osio, A Roos, A Ulbricht, A Ulbricht, AA Ruparelia, AB Moller, AC Nascimbeni, AW Beharry, AZ Caron, B Mohapatra, BC Beehler, BF Miller, C Behl, C He, C Mammucari, C Palma De, D Frank, D Frank, D Selcen, DJ Klionsky, DJ Klionsky, E Cabet, E Eden, E Masiero, E Masiero, E Tresse, EL Eskelinen, EL Eskelinen, Elliot J. Jokl, ES Moreira, F Lo Verso, FJ Ramos, G Blanco, G Dobrowolny, G Milan, Gonzalo Blanco, I Nemazanyy, I Nishino, I Tanida, J Laporte, J Sarparanta, J Schessl, J Zhao, JA Rodriguez-Navarro, JC Choi, JC Kaplan, JF Dice, JJ Wu, JN Rauch, JW Frey, K Baar, K Baar, K Gehmlich, K Sugie, KH Kim, KM Fetalvero, KP Bibee, KW Hsueh, L Brive, L Klinge, LG Goldfarb, LM Baehr, LP Winkel, LR Bridges, M Chrisam, M Kabbage, M Minoia, M Miyazaki, M Mofarrahi, M Pauly, M Sandri, M Vatta, M Vorgerd, MA Hauser, MC Malicdan, MJ Drummond, MS Bhuiyan, N Mizushima, N Mizushima, N Raben, N Raben, N Ramachandran, NC Chang, NP Whitehead, P Grumati, P Grumati, P Vicart, PV Schu, R Medina, R Medina, S Eghtesad, S Homma, S Lange, S Pattingre, S Schiaffino, S Waters, SC Bodine, SC Bodine, SJ Foltz, SK Custer, T Cullup, T Fukuda, T Fukuda, T Hidvegi, T Wenz, TN Stitt, V Arndt, V Carmignac, V Kirkin, V Schaeffer, V Tosch, VA Lira, Y Benjamini, Y Cao, Y Morikawa, Y Tanaka, Y Tian, Y Wang, Y Wei   +121 more
core   +1 more source

Altered Actin Dynamics in Cell Migration of GNE Mutant Cells

Frontiers in Cell and Developmental Biology, 2021
Cell migration is an essential cellular process that requires coordination of cytoskeletal dynamics, reorganization, and signal transduction. The actin cytoskeleton is central in maintaining the cellular structure as well as regulating the mechanisms of ...
Shamulailatpam Shreedarshanee Devi, Rashmi Yadav, Ranjana Arya   +2 more
doaj   +1 more source