Results 61 to 70 of about 6,315 (194)
Identification of an Alu element‐mediated deletion in the promoter region of
Molecular Genetics & Genomic Medicine, 2017 AbstractBackgroundGNE myopathy is a rare genetic disease characterized by progressive muscle atrophy and weakness. It is caused by biallelic mutations in the GNE gene that encodes for the bifunctional enzyme, uridine diphosphate (UDP)‐N‐acetylglucosamine (GlcNAc) 2‐epimerase/N‐acetylmannosamine (ManNAc) kinase.
Jennifer Garland +18 more
openaire +2 more sources
Motor axonal neuropathy associated with GNE mutations
, 2021 Background: Mutations in the GNE gene have been so far described as predominantly associated with distal lower-limb myopathies. Recent reports describe mutations in this gene in patients with peripheral neuropathy and motor neuron disease.
Krahn M. +10 more
core +1 more source
Clinical Case Reports, 2022 We reported a GNE myopathy with congenital thrombocytopenia on a young male patient. He presented with a 3‐year history of lower distal extremity weakness initially affecting his legs.
Zhouwei Xu +4 more
doaj +1 more source
Veterinary and Comparative Oncology, EarlyView.ABSTRACT Tumour cells commonly exhibit aerobic glycolysis and produce lactate despite oxygen availability. Lactate dehydrogenase (LDH) catalyses pyruvate‐lactate interconversion and regulates intracellular lactate levels. Endothelial cells also depend on glycolysis for ATP production, which prompted us to investigate LDH in canine hemangiosarcoma (HSA),
Tamami Suzuki +6 more
wiley +1 more source
Aberrant O‐Glc
The FEBS Journal, 2016 UDP‐N‐acetylglucosamine 2‐epimerase/N‐acetylmannosamine kinase (GNE) is the key enzyme for the biosynthesis of sialic acids. Sialic acids are terminal monosaccharides of glycoconjugates and gangliosides, which have an essential influence on various cell interactions.
Dorit, Bennmann +4 more
openaire +2 more sources
Role of IGF-1R in ameliorating apoptosis of GNE deficient cells
Scientific Reports, 2018 Sialic acids (SAs) are nine carbon acidic amino sugars, found at the outermost termini of glycoconjugates performing various physiological and pathological functions.
Reema Singh +2 more
doaj +1 more source
Biomolecules, 2023 Mutations in the gene coding for the bi-functional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE), the key enzyme of the sialic acid biosynthesis, are responsible for autosomal-recessive GNE myopathy (GNEM).
Vanessa Hagenhaus +10 more
doaj +1 more source
MedComm, Volume 7, Issue 10, October 2026.The Hippo–YAP/TAZ–TEAD pathway integrates mechanical and biochemical cues to govern organ growth, regeneration, cancer, and fibrosis. This review dissects pathway physiology, TEAD structural pharmacology and ligandable pockets, and therapeutic strategies spanning palmitoylation‐pocket inhibitors, PROTAC degraders, and gene/RNA therapies, highlighting ...
Xiaodan Qu, Zhan‐you Wang
wiley +1 more source
GNE Myopathy with Congenital Thrombocytopenia [PDF]
, 2018 GNE myopathy is a distal dominant myopathy with characteristic sparing of quadriceps, which is known to be caused by mutation of the GNE gene. Recently, there were some reports of thrombocytopenia that concurred with GNE myopathy. We also present a case
최영철 +4 more
core
GNE myopathy: from clinics and genetics to pathology and research strategies
Orphanet Journal of Rare Diseases, 2018 GNE myopathy is an ultra-rare autosomal recessive disease, which starts as a distal muscle weakness and ultimately leads to a wheelchair bound state.
Oksana Pogoryelova +4 more
doaj +1 more source