Results 61 to 70 of about 5,472 (195)
Clinical and Translational Medicine, Volume 16, Issue 6, June 2026.1. Lactate‐derived histone lactylation links glycolytic reprogramming to epigenetic regulation in female reproductive diseases. 2. In endometriosis, lactylation may promote inflammatory remodelling, immune dysregulation and ferroptosis resistance. 3. In PCOS, lactylation connects metabolic disturbance to granulosa‐cell dysfunction and hyperandrogenism.
Jiajun Qiao +5 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
Varnimcabtagene autoleucel (ARI‐0001) in relapsed or refractory mantle cell lymphoma
HemaSphere, Volume 10, Issue 5, May 2026.Abstract Varnimcabtagene autoleucel (var‐cel) is an autologous CD19‐directed chimeric antigen receptor (CAR) T‐cell therapy administered using an adaptive, fractionated dosing strategy. We conducted a multicenter retrospective study to evaluate the safety and efficacy of var‐cel in patients with relapsed or refractory (R/R) mantle cell lymphoma (MCL ...
Nil Albiol +41 more
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
The Journal of Gene Medicine, Volume 28, Issue 5, May 2026.GNE myopathy is an autosomal recessive disorder causing progressive skeletal muscle degeneration in young adults and is linked to impaired sialic acid biosynthesis. Here, we demonstrate effective knockdown of GNEM743T mutant and robust GNEwt gene expression using a novel bishRNAi gene plasmid (above).
Christopher M. Jay +10 more
wiley +1 more source
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
Crystal structure of the N-acetylmannosamine kinase domain of GNE. [PDF]
PLoS ONE, 2009 UDP-GlcNAc 2-epimerase/ManNAc 6-kinase, GNE, is a bi-functional enzyme that plays a key role in sialic acid biosynthesis. Mutations of the GNE protein cause sialurea or autosomal recessive inclusion body myopathy/Nonaka myopathy.
Yufeng Tong +4 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
Pregnancy, Volume 2, Issue 3, May 2026.Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld +5 more
wiley +1 more source
npj Parkinson's Disease, 2022 Parkinson’s disease (PD) is characterized by dopaminergic neurodegeneration in nigrostriatal and cortical brain regions associated with pathogenic α-synuclein (αSyn) aggregate/oligomer accumulation.
Philip Wing-Lok Ho +15 more
doaj +1 more source