Results 51 to 60 of about 2,519,227 (189)
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 ...
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560. GNE Gene Replacement in Hereditary Inclusion Body Myopathy
Molecular Therapy, 2006 Hereditary inclusion body myopathy (HIBM) is an adult onset neuromuscular disorder currently without treatment options. The disease has been recently found to be associated with mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (GNE) gene, which is the rate limiting bi-functional enzyme that catalyzes the first two steps ...
Maples, Phillip B. +5 more
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Assessment of Lectin Staining Biomarkers for GNE Myopathy Gene Therapy
Muscle &Nerve, EarlyView.ABSTRACT Introduction/Aims GNE myopathy (GNEM) is a rare, autosomal recessive disorder caused by mutations in the UDP‐N‐acetylglucosamine (GlcNAc) 2‐epimerase/N‐acetylmannosamine (ManNAc) kinase (GNE) gene, which encodes a required enzyme for sialic acid (SA) biosynthesis.
Kristina M. Sattler +8 more
wiley +1 more source
A Novel Mutation of the GNE Gene in Distal Myopathy with Rimmed Vacuoles: A Case with Inflammation
Case Reports in Neurology, 2014 Distal myopathy with rimmed vacuoles (DMRV) is an autosomal recessive or sporadic early adult-onset myopathy caused by mutations in the UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase (GNE) gene.
Jantima Tanboon +5 more
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The Prostate, EarlyView.ABSTRACT Background For prostate cancer (PCa), early diagnosis and biomarker‐based patient stratification can improve clinical decision‐making and post‐treatment prognosis. PCa biomarkers are best validated in tissue following comprehensive histopathologic review; however, urinary biomarkers can be obtained non‐invasively and are therefore safer and ...
Yuandong Xing +11 more
wiley +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
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GNE protein expression and subcellular distribution are unaltered in HIBM
Mutations in GNE encoding UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) cause hereditary inclusion body myopathy (HIBM). To define the role of GNE mutations in HIBM pathogenesis, GNE protein expression was analyzed.
Mitrani-Rosenbaum S +8 more
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, 2022 Bromodomains are acetyllysine recognition domains present in a variety of human proteins. Bromodomains also bind small molecules that compete with acetyllysine, and therefore bromodomains have been targets for drug discovery efforts.
Vickie Tsui (1947505) +29 more
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Cancer Science, EarlyView.This study aimed to determine whether personalized selection of effective drugs for SMARCB1/INI1‐deficient tumors is feasible using in vitro drug sensitivity profiling. Drug sensitivity was assessed using a short‐term collagen gel–embedded three‐dimensional drug sensitivity test (3D‐DST) in tumors derived from SMARCB1/INI1‐deficient tumor cell line ...
Hiroaki Goto +12 more
wiley +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
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