Results 41 to 50 of about 1,629 (185)

<i>GNE</i> genotype explains 20% of phenotypic variability in GNE myopathy. [PDF]

Neurol Genet, 2019
To test the hypothesis that common GNE mutations influence disease severity; using statistical analysis of patient cohorts from different countries.Systematic literature review identified 11 articles reporting 759 patients. GNE registry data were used as a second data set.
Pogoryelova O, Wilson IJ, Mansbach H, Argov Z, Nishino I, Lochmüller H.   +5 more
europepmc   +5 more sources

GNE – related severe congenital macrothrombocytopenia: A case report and literature review

Journal of Applied Hematology, 2022
Congenital thrombocytopenia results from genetic mutations in genes implicated in megakaryocyte differentiation and/or platelet formation and clearance.
Muhammad Matloob Alam, Abdulrhman Alathaibi, Muhammad Kashif, Mohammed Zakaria, Ruwayd Adel Attar, Hamdan Saeed Al-Ghamdi, Abdullah Obaid Al Harbi   +6 more
doaj   +1 more source

Mutation Update forGNEGene Variants Associated with GNE Myopathy [PDF]

Human Mutation, 2014
The GNE gene encodes the rate-limiting, bifunctional enzyme of sialic acid biosynthesis, uridine diphosphate-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE). Biallelic GNE mutations underlie GNE myopathy, an adult-onset progressive myopathy. GNE myopathy-associated GNE mutations are predominantly missense, resulting in reduced, but not
Frank V, Celeste, Thierry, Vilboux, Carla, Ciccone, John Karl, de Dios, May Christine V, Malicdan, Petcharat, Leoyklang, John C, McKew, William A, Gahl, Nuria, Carrillo-Carrasco, Marjan, Huizing   +9 more
openaire   +2 more sources

Lower Limb Radiology of Distal Myopathy due to the S60F Myotilin Mutation [PDF]

, 2009
Distal myopathies are a clinically and genetically heterogenous group of disorders in which the distal limb musculature is selectively or disproportionately affected.
Birchall, Daniel, Chinnery, Patrick F., Goldfarb, Lev, Lochmueller, Hanns, McNeill, Alisdair, Reilich, Peter, Schramm, Nicolai, Straub, Volker, Walter, Maggie C.   +8 more
core   +1 more source

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

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

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

GNE myopathy: current update and future therapy [PDF]

Journal of Neurology, Neurosurgery & Psychiatry, 2014
GNE myopathy is an autosomal recessive muscle disease caused by biallelic mutations in GNE, a gene encoding for a single protein with key enzymatic activities, UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase, in sialic acid biosynthetic pathway. The diagnosis should be considered primarily in patients presenting with distal weakness (
Ichizo Nishino, Nuria Carrillo-Carrasco, Zohar Argov   +2 more
openaire   +2 more sources

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

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