Results 11 to 20 of about 5,472 (195)

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

GNE myopathy with premature ovarian failure: Case report and review of the literature [PDF]

Molecular Genetics and Metabolism Reports
GNE myopathy (GNE-M) is an ultra-rare disease characterized by muscle weakness in the extremities. The main etiology is that a pathogenic variation in the GNE gene leads to a reduction in sialic acid synthesis.
Shangyi Yang, Jine Yang
doaj   +3 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

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 ...
Beatriz L, Pereira, Mariana, Barbosa, Pedro, Granjo, Hanns, Lochmüller, Paula A, Videira   +4 more
openaire   +3 more sources

GNE is involved in the early development of skeletal and cardiac muscle. [PDF]

PLoS ONE, 2011
UDP-N-acetylglucosamine 2 epimerase/N-acetylmannosamime kinase (GNE) is a bifunctional enzyme which catalyzes the two key sequential steps in the biosynthetic pathway of sialic acid, the most abundant terminal monosaccharide on glycoconjugates of ...
Irit Milman Krentsis, Ilan Sela, Rachel Eiges, Véronique Blanchard, Markus Berger, Michal Becker Cohen, Stella Mitrani-Rosenbaum   +6 more
doaj   +2 more sources

Hydroxyethylamine & phthalimide analogs restoring defects due to GNE dysfunction: rare disease therapeutic significance [PDF]

Molecular Medicine
Rare diseases refer to a group of neglected diseases with low prevalence that face challenges in diagnostics as well as therapeutics due to phenotypic heterogeneity and ineffective clinical trials.
Shagun Singh, Meenakshi Bansal, Neha Sharma, Vikas Yadav, Fluencephila Mashangva, Jyoti Oswalia, Vaishali Gautam, Gagan Deep Jhingan, Naidu Subbarao, Brijesh Rathi, Ranjana Arya   +10 more
doaj   +2 more sources

Comparison of whole-body muscle imaging findings between GNE myopathy and other young adult-onset hereditary myopathies. [PDF]

PLoS ONE
ObjectivesPrevious muscle imaging studies of GNE myopathy are limited to the lower extremities. This study aimed to use whole-body MRI to differentiate between GNE myopathy and other young adult-onset hereditary myopathies.Materials and methodsThis ...
Pattira Boonsri, Suppakorn Yamutai, Pramot Tanutit, Jirakit Sattayapornpipat, Chariyawan Charalsawadi, Prut Koonalintip, Pornchai Sathirapanya, Suwanna Setthawatcharawanich, Rattana Leelawattana, Pat Korathanakhun   +9 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

Mechanistic role of GNE‐987 targeting BRD4‐HCP5 axis in pediatric T‐cell acute lymphoblastic leukemia [PDF]

Journal of Cell Communication and Signaling, Volume 20, Issue 1, March 2026.
Abstract This study aims to explore the mechanism of action of the Bromodomain‐containing protein 4 (BRD4) inhibitor GNE‐987 in the treatment of pediatric T‐cell Acute Lymphoblastic Leukemia (T‐ALL), focusing on its effect in inhibiting T‐ALL cell proliferation by activating the HLA Complex P5 (HCP5) Super‐enhancer.
Xu Sang, Mengying Jiang, Yanchun Guan, Xin Chen, Zhen Zhang, Yumeng Wu, Wansheng Peng   +6 more
wiley   +2 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