Results 51 to 60 of about 2,890 (187)
Behavioral features in child and adolescent huntingtin gene‐mutation carriers
Brain and Behavior, 2022 Introduction We compared neuropsychiatric symptoms between child and adolescent huntingtin gene‐mutation carriers and noncarriers. Given previous evidence of atypical striatal development in carriers, we also assessed the relationship between ...
Erin E. Reasoner +8 more
doaj +1 more source
Lectin Staining Biomarkers for Gene Therapy in GNE Myopathy
The FASEB Journal, 2020 GNE myopathy (GNEM) is an autosomal recessive disease characterized by muscle wasting and weakness. This disease is caused by mutations in the GNE (UDP‐N‐acetylglucosamine (GlcNAc) 2‐epimerase/N‐acetylmannosamine (ManNAc) kinase) gene, which ...
openaire +1 more source
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
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Biosynthesis of UDP-GlcNAc, UndPP-GlcNAc and UDP-GlcNAcA involves three easily distinguished 4-epimerase enzymes, Gne, Gnu and GnaB. [PDF]
PLoS ONE, 2013 We have undertaken an extensive survey of a group of epimerases originally named Gne, that were thought to be responsible for inter-conversion of UDP-N-acetylglucosamine (UDP-GlcNAc) and UDP-N-acetylgalactosamine (UDP-GalNAc).
Monica M Cunneen +3 more
doaj +1 more source
BMC Medical Genetics, 2020 Background Neonatal thrombocytopenia is common in preterm and term neonates admitted to neonatal intensive care units. The etiology behind neonatal thrombocytopenia is complex. Inherited thrombocytopenia is rare and usually results from genetic mutations.
Xin Li +7 more
doaj +1 more source
Efficacy confirmation study of aceneuramic acid administration for GNE myopathy in Japan
Orphanet Journal of Rare Diseases, 2023 Background A rare muscle disease, GNE myopathy is caused by mutations in the GNE gene involved in sialic acid biosynthesis. Our recent phase II/III study has indicated that oral administration of aceneuramic acid to patients slows disease progression ...
Madoka Mori-Yoshimura +17 more
doaj +1 more source
Autonomic Changes in Juvenile-Onset Huntington’s Disease
Brain Sciences, 2020 Patients with adult-onset Huntington’s Disease (AOHD) have been found to have dysfunction of the autonomic nervous system that is thought to be secondary to neurodegeneration causing dysfunction of the brain–heart axis. However, this relationship has not
Jordan L. Schultz, Peg C. Nopoulos
doaj +1 more source
USP35 Acts as a Deubiquitinating Enzyme for ID3 to Promote Immune Escape in Colorectal Cancer
Advanced Science, EarlyView.USP35 stabilizes ID3 expression by deubiquitinating the K2/K30 site, thereby upregulating PD‐L1 and promoting immune escape in colorectal cancer. IU1, an inhibitor of USP35 enzyme activity, has been shown to inhibit USP35, thereby accelerating ID3 degradation, enhancing CD8+ T cell killing, and reversing the immunosuppressive microenvironment ...
Wenxin Chen +9 more
wiley +1 more source
Non‐Histone Lactylation: A New Frontier in Cerebral Ischemia‐Reperfusion Injury
Med Research, EarlyView.ABSTRACT Reperfusion therapy is the mainstay of treatment for ischemic stroke (IS) but frequently exacerbates secondary injury. Following cerebral ischemia and hypoxia, lactate accumulates markedly. Traditionally regarded as a metabolic byproduct, lactate has gained new significance with the discovery of protein lactylation. In addition to experimental
Minghui Tang +13 more
wiley +1 more source
The FEBS Journal, EarlyView.Genetic rearrangements resulting in the expression of KMT2A fusion alleles can lead to dramatic transcriptional disturbances that contribute to the onset of acute leukaemias. Fortunately, menin inhibition has emerged as a promising new class of targeted therapy.
Lydia Elaine Roets +2 more
wiley +1 more source