Ganglioside GM3 levels are altered in a mouse model of HIBM: GM3 as a cellular marker of the disease. [PDF]
PLoS ONE, 2010 ObjectiveHIBM (Hereditary Inclusion Body Myopathy) is a recessive hereditary disease characterized by adult-onset, slowly progressive muscle weakness sparing the quadriceps.
Thomas Paccalet +2 more
doaj +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
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 +1 more source
GluN2A NMDA Receptor Enhancement Improves Brain Oscillations, Synchrony, and Cognitive Functions in Dravet Syndrome and Alzheimer's Disease Models. [PDF]
, 2020 NMDA receptors (NMDARs) play subunit-specific roles in synaptic function and are implicated in neuropsychiatric and neurodegenerative disorders. However, the in vivo consequences and therapeutic potential of pharmacologically enhancing NMDAR function via
Chan, Connie +25 more
core +1 more source
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
Combination of hypomorphic mutations of the Drosophila homologues of aryl hydrocarbon receptor and nucleosome assembly protein family genes disrupts morphogenesis, memory and detoxification [PDF]
, 2014 Aryl hydrocarbon receptor is essential for biological responses to endogenous and exogenous toxins in mammals. Its Drosophila homolog spineless plays an important role in fly morphogenesis.
Cherezov, R. O. +8 more
core +18 more sources
141. GNE Vector Development and Testing for Gene Replacement Treatment of Hereditary Inclusion Body Myopathy [PDF]
Molecular Therapy, 2007 openalex +2 more sources
Nationwide patient registry for GNE myopathy in Japan [PDF]
, 2014 BACKGROUND: GNE myopathy is a slowly progressive autosomal recessive myopathy caused by mutations in the GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase) gene.
En Kimura +7 more
core +1 more source