Results 1 to 10 of about 4,568 (194)
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 +6 more
wiley +3 more sources
Generation and characterization of a novel gne Knockout Model in Zebrafish [PDF]
Frontiers in Cell and Developmental Biology, 2022 GNE Myopathy is a rare, recessively inherited neuromuscular worldwide disorder, caused by a spectrum of bi-allelic mutations in the human GNE gene. GNE encodes a bi-functional enzyme responsible for the rate-limiting step of sialic acid biosynthesis ...
Hagay Livne +7 more
doaj +2 more sources
GNE myopathy with premature ovarian failure: Case report and review of the literature [PDF]
Molecular Genetics and Metabolism ReportsGNE 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
A recurrent GNE variant causing GNE myopathy in unrelated patients from Pakistan: a case series [PDF]
Journal of Medical Case ReportsBackground 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 +4 more
doaj +4 more sources
Microbiology Spectrum, 2023 Replication of influenza A virus (IAV) is highly reliant on host cell function, and to identify the key host factor required in the influenza A virus life cycle, a genome-wide CRISPR/Cas9 knockout (KO) screen was conducted in A549 cells infected by H1N1 ...
Tianxin Ma +17 more
doaj +2 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 +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 +4 more
doaj +4 more sources
GNE myopathy (Nonaka myopathy)
Анналы клинической и экспериментальной неврологии, 2019 GNE myopathy (Nonaka myopathy) is a rare recessive muscular dystrophy associated with the GNE gene, which is involved in sialic acid synthesis. Typical onset is in the third decade of life with distal weakness of the arms and legs, gradually progressing ...
Galina E. Rudenskaya +2 more
doaj +3 more sources