Frontiers in Bioscience-Landmark, 2023 Background: A key mechanism in the neuromuscular disease GNE myopathy (GNEM) is believed to be that point mutations in the GNE gene impair sialic acid synthesis – maybe due to UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) activity ...
Emilia Peters +4 more
doaj +1 more source
GNE – related severe congenital macrothrombocytopenia: A case report and literature review
Journal of Applied Hematology, 2022 Congenital thrombocytopenia results from genetic mutations in genes implicated in megakaryocyte differentiation and/or platelet formation and clearance.
Muhammad Matloob Alam +6 more
doaj +1 more source
4472 Plasma Neurofilament Light as a Biomarker for Pediatric Patients with Huntington’s Disease
Journal of Clinical and Translational Science, 2020 OBJECTIVES/GOALS: The goal of this study is to compare plasma neurofilament light (NfL) concentrations in asymptomatic children and young adults that carry the gene expansion (GE group) that causes Huntington’s Disease to similar subjects that do not ...
Jordan L Schultz
doaj +1 more source
UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) binds to alpha-actinin 1: novel pathways in skeletal muscle? [PDF]
, 2008 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.
North Kathryn N. +31 more
core +2 more sources
Клинико-генетические характеристики миопатии Нонака (GNE-миопатии) у российских больных [PDF]
, 2019 Clinical and genetic characteristics of 9patients with Nonaka myopathy (GNE-myopathy) from Russia are presented. As a result of exom sequencing, 11 different mutations were revealed in the GNE gene, 8 of which were described earlier, and 3 – Сys203Ser ...
А. Ф. Муртазина +13 more
core +1 more source
Myogenesis defects in a patient-derived iPSC model of hereditary GNE myopathy
npj Regenerative Medicine, 2022 Hereditary muscle diseases are disabling disorders lacking effective treatments. UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (GNE) myopathy (GNEM) is an autosomal recessive distal myopathy with rimmed vacuoles typically manifesting in ...
Rebecca E. Schmitt +8 more
doaj +1 more source
Hippo Pathway-YAP/TAZ Signaling: Molecular Mechanisms, Biological Function, Diseases, and Therapeutic Targets. [PDF]
MedComm (2020)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 ...
Qu X, Wang ZY.
europepmc +2 more sources
Bialelic pathogenic (c.830g>a(p.r277q)) variant disrupting the GNE gene function and causes Nonaka myopathy phenotype [PDF]
, 2023 Nonaka myopathy (MIM 605820) is caused by homozygous pathogenic variants in the GNE gene. It is a recessively inherited early adult-onset myopathy that usually preserves the quadriceps and presents with bilateral foot drop, usually caused by anterior ...
Gezdirici, Alper +4 more
core +1 more source
Dissecting role of founder mutation p.V727M in GNE in Indian HIBM cohort
Open Medicine, 2021 GNE gene-specific c.2179G>A(p.V727M) is a key alteration reported in patients with hereditary inclusion body myopathy (HIBM) and represents an ethnic founder mutation in the Indian cohort.
Attri Shivangi +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