Results 1 to 10 of about 2,871 (171)

Development of Assays to Measure GNE Gene Potency and Gene Replacement in Skeletal Muscle. [PDF]

J Neuromuscul Dis, 2023
Background: GNE myopathy (GNEM) is a severe muscle disease caused by mutations in the UDP-GlcNAc-2-epimerase/ManNAc-6-kinase ( GNE ) gene, which encodes a bifunctional enzyme required for sialic acid (Sia) biosynthesis. Objective:
Zygmunt DA, Lam P, Ashbrook A, Koczwara K, Lek A, Lek M, Martin PT.   +6 more
europepmc   +5 more sources

The frequent variant A57F in the GNE gene in patients from Russia has Finno-Ugric Mari origin [PDF]

Frontiers in Genetics
IntroductionGNE-myopathy is a distal myopathy with adult-onset and initial involvement of anterior leg compartment. A founder effect has been demonstrated for some patients from several large cohorts in different countries.MethodsIn this study, we ...
Dmitrii Subbotin, Sofya Ionova, Andrey Marakhonov, Elena Saifullina, Artem Borovikov, Leila Akhmadeeva, Polina Chausova, Oksana Ryzhkova, Rena Zinchenko, Sergey Kutsev, Aysylu Murtazina   +10 more
doaj   +6 more sources

A case report: identification of a novel exon 1 deletion mutation in the GNE gene in a Chinese patient with GNE myopathy. [PDF]

Medicine (Baltimore), 2020
GNE myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase(GNE) gene and is clinically characterized by progressive weakness and atrophy of the lower-limb muscles with quadriceps sparing. Nearly all GNE mutations that have been reported thus far in various ethnic populations around the world have been ...
Miao J, Wei XJ, Wang X, Yin X, Yu XF.
europepmc   +4 more sources

Novel GNE Gene Variants Associated with Severe Congenital Thrombocytopenia and Platelet Sialylation Defect. [PDF]

Thromb Haemost, 2022
AbstractThe GNE gene encodes an enzyme that initiates and regulates the biosynthesis of N-acetylneuraminic acid, a precursor of sialic acids. GNE mutations are classically associated with Nonaka myopathy and sialuria, following an autosomal recessive and autosomal dominant inheritance pattern.
Zieger B, Boeckelmann D, Anani W, Falet H, Zhu J, Glonnegger H, Full H, Andresen F, Erlacher M, Lausch E, Fels S, Strahm B, Lang P, Hoffmeister KM.   +13 more
europepmc   +6 more sources

Mutation update for GNE gene variants associated with GNE myopathy. [PDF]

Hum Mutat, 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
Celeste FV, Vilboux T, Ciccone C, de Dios JK, Malicdan MC, Leoyklang P, McKew JC, Gahl WA, Carrillo-Carrasco N, Huizing M.   +9 more
europepmc   +6 more sources

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   +3 more sources

Distal myopathy with rimmed vacuoles: Spectrum of GNE gene mutations in seven Chinese patients. [PDF]

Exp Ther Med, 2018
Distal myopathy with rimmed vacuoles (DMRV) is a rare, autosomal, recessive inherited disease caused by mutations in the GNE gene. DMRV is an adult-onset disorder characterized by progressive muscle atrophy and weakness, which initially involves the distal muscles with quadriceps sparing.
Su F, Miao J, Liu X, Wei X, Yu X.
europepmc   +6 more sources

A Novel Mutation of the GNE Gene in Distal Myopathy with Rimmed Vacuoles: A Case with Inflammation [PDF]

Case Reports in Neurology, 2014
Distal myopathy with rimmed vacuoles (DMRV) is an autosomal recessive or sporadic early adult-onset myopathy caused by mutations in the UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase (GNE) gene.
Jantima Tanboon, Kanjana Rongsa, Manop Pithukpakorn, Kanokwan Boonyapisit, Chanin Limwongse, Tumtip Sangruchi   +5 more
doaj   +4 more sources

Novel Mutation of the GNE Gene Presenting Atypical Mild Clinical Feature: A Korean Case Report. [PDF]

Ann Rehabil Med, 2015
Glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase (GNE) myopathy is caused by mutations in GNE, a key enzyme in sialic acid biosynthesis. Here, we reported a case of GNE that presented with atypical mild clinical feature and slow progression.
Choi YA, Park SH, Yi Y, Kim K.
europepmc   +6 more sources

560. GNE Gene Replacement in Hereditary Inclusion Body Myopathy [PDF]

Molecular Therapy, 2006
Hereditary inclusion body myopathy (HIBM) is an adult onset neuromuscular disorder currently without treatment options. The disease has been recently found to be associated with mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (GNE) gene, which is the rate limiting bi-functional enzyme that catalyzes the first two steps ...
Phillip B. Maples, Daniel Darvish, Gregory Nemunaitis, Esther H. Chang, Julie Ogden, John Nemunaitis   +5 more
openalex   +2 more sources