Results 11 to 20 of about 6,315 (194)

A recurrent GNE variant causing GNE myopathy in unrelated patients from Pakistan: a case series [PDF]

Journal of Medical Case Reports
Background GNE myopathy, also referred to as bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase myopathy, is a progressive distal myopathy marked by rimmed vacuoles and linked to a variety of disease-causing genetic variants ...
Shafaq Saleem, Fizza Akbar, Salman Kirmani, Ehtesham Khalid, Sara Khan   +4 more
doaj   +5 more sources

GNE genotype explains 20% of phenotypic variability in GNE myopathy [PDF]

Neurology Genetics, 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
openaire   +4 more sources

UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) binds to alpha-actinin 1: novel pathways in skeletal muscle? [PDF]

PLoS ONE, 2008
BACKGROUND: Hereditary inclusion body myopathy (HIBM) is a rare neuromuscular disorder caused by mutations in GNE, the key enzyme in the biosynthetic pathway of sialic acid.
Shira Amsili, Hagit Zer, Stephan Hinderlich, Sabine Krause, Michal Becker-Cohen, Daniel G MacArthur, Kathryn N North, Stella Mitrani-Rosenbaum   +7 more
doaj   +3 more sources

Myopathie GNE [PDF]

médecine/sciences, 2015
La myopathie GNE est une maladie neuromusculaire rare et de description relativement récente. Elle touche une population majoritairement d’âge adulte et se transmet selon un mode autosomique récessif.
J. Andoni Urtizberea, Anthony Béhin
openaire   +2 more sources

Beyond sialylation: Exploring the multifaceted role of GNE in GNE myopathy [PDF]

Molecular Genetics and Metabolism
Defects in sialic acid metabolism disrupt the sialylation of glycoproteins and glycolipids, contributing to a spectrum of diseases, including GNE myopathy (GNEM). This rare disorder is caused by mutations in the GNE gene that encodes for a bifunctional enzyme required for sialic acid biosynthesis, resulting in progressive muscle atrophy and weakness ...
Pereira, Beatriz L., Barbosa, Mariana, Granjo, Pedro, Lochmüller, Hanns, Videira, Paula A.   +4 more
openaire   +3 more sources

Different electrophysiology patterns in GNE myopathy

Orphanet Journal of Rare Diseases, 2022
Background GNE myopathy is a rare distal myopathy caused by mutations of the GNE gene. A few cases of GNE myopathy accompanied by neurogenic features of electrophysiology mimicking hereditary motor neuropathy were reported recently.
Xiangyi Liu, Yingshuang Zhang, Shuo Zhang, Aping Sun, Danfeng Zheng, Dongsheng Fan, Xiaoxuan Liu   +6 more
doaj   +3 more sources

GNE myopathy: History, etiology, and treatment trials [PDF]

Frontiers in Neurology, 2022
GNE myopathy is an ultrarare muscle disease characterized by slowly progressive muscle weakness. Symptoms typically start in early adulthood, with weakness and atrophy in the tibialis anterior muscles and with slow progression over time, which largely ...
Jeffrey Mullen, Khalid Alrasheed, Tahseen Mozaffar, Tahseen Mozaffar, Tahseen Mozaffar   +4 more
doaj   +2 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   +4 more sources

GNE Myopathy With Novel Mutations and Pronounced Paraspinal Muscle Atrophy [PDF]

Frontiers in Neurology, 2018
GNE myopathy is characterized by distal muscle weakness, and caused by recessive mutations in GNE. Its onset is characteristically in young adulthood, although a broad spectrum of onset age is known to exist.
Tyler Soule, Cecile Phan, Chris White, Lothar Resch, Atilano Lacson, Kristina Martens, Gerald Pfeffer, Gerald Pfeffer   +7 more
doaj   +2 more sources

Multidimensional analyses of the pathomechanism caused by the non-catalytic GNE variant, c.620A>T, in patients with GNE myopathy

Scientific Reports, 2022
GNE myopathy is a distal myopathy caused by biallelic variants in GNE, which encodes a protein involved in sialic acid biosynthesis. Compound heterozygosity of the second most frequent variant among Japanese GNE myopathy patients, GNE c.620A>T encoding p.
Wakako Yoshioka, Aritoshi Iida, Kyuto Sonehara, Kazuki Yamamoto, Yasushi Oya, Madoka Mori-Yoshimura, Takashi Kurashige, Mariko Okubo, Megumu Ogawa, Fumihiko Matsuda, Koichiro Higasa, Shinichiro Hayashi, Harumasa Nakamura, Masakazu Sekijima, Yukinori Okada, Satoru Noguchi, Ichizo Nishino   +16 more
doaj   +3 more sources