Identification of an Alu element‐mediated deletion in the promoter region of GNE in siblings with GNE myopathy
Sign Up to like & getrecommendations! Published in 2017 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.300
Abstract: GNE myopathy is a rare genetic disease characterized by progressive muscle atrophy and weakness. It is caused by biallelic mutations in the GNE gene that encodes for the bifunctional enzyme, uridine diphosphate (UDP)‐N‐acetylglucosamine (GlcNAc) 2‐epimerase/N‐acetylmannosamine… read more here.
Keywords: gne myopathy; identification alu; element mediated; gne ... See more keywords
Tissue specific expression of sialic acid metabolic pathway: role in GNE myopathy
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Muscle Research and Cell Motility"
DOI: 10.1007/s10974-020-09590-7
Abstract: GNE myopathy is an adult-onset degenerative muscle disease that leads to extreme disability in patients. Biallelic mutations in the rate-limiting enzyme UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine-kinase (GNE) of sialic acid (SA) biosynthetic pathway, was shown to be the cause… read more here.
Keywords: muscle; gne myopathy; tissue; expression ... See more keywords
GNE myopathy in a Chinese male with a novel homozygous mutation
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Clinical Neuroscience"
DOI: 10.1016/j.jocn.2016.12.041
Abstract: GNE myopathy is a rare autosomal recessive inheritance disease due to the mutation of GNE gene. To date, 107 mutations have been reported in different populations worldwide in GNE gene(HGMD Professional 2016.2). Here we report… read more here.
Keywords: novel homozygous; mutation gne; gne myopathy; gne gene ... See more keywords
GNE Myopathy as a Myofibrillar Myopathy: Potential Important Disease Mechanism Implied by Muscle Biopsy.
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Clinical Neuromuscular Disease"
DOI: 10.1097/cnd.0000000000000317
Abstract: We report a case of 2 sisters in their 20s with genetically confirmed UDP-N-acetylglucoasmine 2-epimerase/N-acetylmannosamine kinase myopathy along with muscle biopsy findings. Both patients described slowly progressive signs of distal-predominant weakness since adolescence that had… read more here.
Keywords: gne myopathy; myofibrillar myopathy; muscle biopsy;
GNE genotype explains 20% of phenotypic variability in GNE myopathy
Sign Up to like & getrecommendations! Published in 2019 at "Neurology: Genetics"
DOI: 10.1212/nxg.0000000000000308
Abstract: Objective To test the hypothesis that common GNE mutations influence disease severity; using statistical analysis of patient cohorts from different countries. Methods Systematic literature review identified 11 articles reporting 759 patients. GNE registry data were… read more here.
Keywords: gne; gne myopathy; variability; age onset ... See more keywords
Phase II/III Study of Aceneuramic Acid Administration for GNE Myopathy in Japan.
Sign Up to like & getrecommendations! Published in 2023 at "Journal of neuromuscular diseases"
DOI: 10.3233/jnd-230029
Abstract: BACKGROUND GNE myopathy is an ultra-rare muscle disease characterized by a reduction in the synthesis of sialic acid derived from pathogenic variants in the GNE gene. No treatment has been established so far. OBJECTIVE We… read more here.
Keywords: gne myopathy; administration; group; aceneuramic acid ... See more keywords
Genetic and Clinical Spectrum of GNE Myopathy in Russia
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DOI: 10.3390/genes13111991
Abstract: GNE myopathy (GNEM) is a rare hereditary disease, but at the same time, it is the most common distal myopathy in several countries due to a founder effect of some pathogenic variants in the GNE… read more here.
Keywords: spectrum gne; gne myopathy; spectrum; genetic clinical ... See more keywords