GNE myopathy: from clinics and genetics to pathology and research strategies [PDF]
Orphanet Journal of Rare Diseases, 2018 GNE myopathy is an ultra-rare autosomal recessive disease, which starts as a distal muscle weakness and ultimately leads to a wheelchair bound state.
Oksana Pogoryelova +4 more
doaj +2 more sources
Evaluation of N-Acetylmannosamine Administration to Restore Sialylation in GNE-Deficient Human Embryonal Kidney Cells [PDF]
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 +3 more sources
Nationwide patient registry for GNE myopathy in Japan [PDF]
Orphanet Journal of Rare Diseases, 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 +4 more sources
Novel compound heterozygous mutations in a GNE myopathy with congenital thrombocytopenia: A case report and literature review [PDF]
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 +2 more sources
GNE myopathy with premature ovarian failure: Case report and review of the literature [PDF]
Molecular Genetics and Metabolism ReportsGNE myopathy (GNE-M) is an ultra-rare disease characterized by muscle weakness in the extremities. The main etiology is that a pathogenic variation in the GNE gene leads to a reduction in sialic acid synthesis.
Shangyi Yang, Jine Yang
doaj +2 more sources
Glycation Interferes with the Activity of the Bi-Functional UDP-N-Acetylglucosamine 2-Epimerase/N-Acetyl-mannosamine Kinase (GNE) [PDF]
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 +4 more sources
Progression of GNE Myopathy Based on the Patient-Reported Outcome. [PDF]
J Clin Neurol, 2019 BACKGROUND AND PURPOSE: GNE myopathy is a rare progressive myopathy caused by biallelic mutations in the GNE gene, and frequently accompanied by rimmed vacuoles in muscle pathology.
Park YE, Kim DS, Choi YC, Shin JH.
europepmc +3 more sources
Atypical presentation of GNE myopathy with asymmetric hand weakness [PDF]
Neuromuscular Disorders, 2014 GNE myopathy is a rare autosomal recessive muscle disease caused by mutations in GNE, the gene encoding the rate-limiting enzyme in sialic acid biosynthesis. GNE myopathy usually manifests in early adulthood with distal myopathy that progresses slowly and symmetrically, first involving distal muscles of the lower extremities, followed by proximal ...
John Karl L. de Dios +13 more
openaire +4 more sources
Exploring the multifaceted role of GNE in GNE myopathy [PDF]
Molecular Genetics and Metabolism101080249) and the Canada Research Coordinating Committee New Frontiers in Research Fund (NFRFG-2022-00033) for SIMPATHIC, and from the Government of Canada First Research Excellence Fund (CFREF) for the Brain-Heart Interconnectome (CFREF-2022-00007 ...
Barbosa, Mariana +4 more
core +3 more sources
Insights into muscle degeneration from heritable inclusion body myopathies [PDF]
Frontiers in Aging Neuroscience, 2015 Muscle mass and function is gradually lost in age-related, degenerative neuromuscular disorders which also reflect the clinical hallmarks of sarcopenia.
Sabine eKrause
doaj +4 more sources