Results 1 to 10 of about 2,960 (158)

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 Celeste, Marjan Huizing, Núria Carrillo   +2 more
exaly   +5 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

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   +4 more sources

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.
Zygmunt DA, Lam P, Ashbrook A, Koczwara K, Lek A, Lek M, Martin PT.   +6 more
europepmc   +3 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   +3 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   +4 more sources

Preclinical assessment of GNEwt/bi-shRNA-GNEM743T lipoplex product development for GNE myopathy [PDF]

Future Science OA
Aims GNE myopathy is a heredity disease of unmet medical need associated with progressive skeletal muscle wasting, atrophy and weakness caused by mutations in the GNE gene. GNE plays a pivotal role in sialic acid production.
Fabienne Kerneis, Christopher M Jay, Donald Rao, Jeremy Winchester, Alexander Nemunaitis, Emily Nemunaitis, Ernest Bognar, Gladice Wallraven, Laura Stanbery, Adam Walter, Sep Sarshar, John Nemunaitis   +11 more
doaj   +2 more sources

Defective autophagy in GNE myopathy is rescued by inhibition of noncanonical Akt–mTORC1 activation across multiple isogenic models [PDF]

Experimental and Molecular Medicine
GNE myopathy is a recessive autosomal disease caused by mutations in glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase (GNE), characterized by impaired sialic acid biosynthesis and the formation of rimmed vacuoles.
Dong-Woo Kim, Eun-Ji Kwon, Hyuk Kwon, Jumee Kim, Hyuk-Jin Cha   +4 more
doaj   +2 more sources

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

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   +2 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   +3 more sources