Calcium level and autophagy defect in GNE mutants of rare neuromuscular disorder
Sign Up to like & getrecommendations! Published in 2024 at "Cell Biology International"
DOI: 10.1002/cbin.12268
Abstract: Rare genetic disorders are low in prevalence and hence there is little or no attention paid to them in the mainstream medical industry. One of the ultra‐rare neuromuscular disorders, GNE myopathy is caused due to… read more here.
Keywords: mutant cells; gne mutant; gne; calcium ... See more keywords
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
Generation and Characterization of a Skeletal Muscle Cell-Based Model Carrying One Single Gne Allele: Implications in Actin Dynamics.
Sign Up to like & getrecommendations! Published in 2021 at "Molecular neurobiology"
DOI: 10.1007/s12035-021-02549-w
Abstract: UDP-N-Acetyl glucosamine-2 epimerase/N-acetyl mannosamine kinase (GNE) catalyzes key enzymatic reactions in the biosynthesis of sialic acid. Mutation in GNE gene causes GNE myopathy (GNEM) characterized by adult-onset muscle weakness and degeneration. However, recent studies propose… read more here.
Keywords: skeletal muscle; muscle; cell based; gne ... 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
USP7 small-molecule inhibitors interfere with ubiquitin binding
Sign Up to like & getrecommendations! Published in 2017 at "Nature"
DOI: 10.1038/nature24006
Abstract: The ubiquitin system regulates essential cellular processes in eukaryotes. Ubiquitin is ligated to substrate proteins as monomers or chains and the topology of ubiquitin modifications regulates substrate interactions with specific proteins. Thus ubiquitination directs a… read more here.
Keywords: small molecule; binding; ubiquitin binding; molecule inhibitors ... See more keywords
Novel GNE Gene Variants Associated with Severe Congenital Thrombocytopenia and Platelet Sialylation Defect.
Sign Up to like & getrecommendations! Published in 2022 at "Thrombosis and haemostasis"
DOI: 10.1055/s-0041-1742207
Abstract: The GNE gene encodes an enzyme that initiates and regulates the biosynthesis of N-acetylneuraminic acid, a precursor of sialic acids. GNE mutations are classically associated with Nonaka myopathy and sialuria, following an autosomal recessive and… read more here.
Keywords: defect; gne; thrombocytopenia; platelet ... See more keywords
ManNAc attenuates Man5 glycoform abundance through GNE-mediated metabolic channeling of UDP-GlcNAc to N-glycosylation modifications via CMP-Neu5Ac biosynthesis
Sign Up to like & getrecommendations! Published in 2025 at "mAbs"
DOI: 10.1080/19420862.2025.2561823
Abstract: ABSTRACT N-glycosylation, a critical quality attribute of monoclonal antibodies, plays a pivotal role in regulating pharmacokinetics and pharmacodynamics through high-mannose (Man5) glycoform modulation. While our previous work demonstrated that N-acetyl-D-mannosamine (ManNAc) supplementation effectively reduces Man5… read more here.
Keywords: cmp neu5ac; gne; mannac; udp glcnac ... See more keywords
GNE deficiency impairs Myogenesis in C2C12 cells and cannot be rescued by ManNAc supplementation
Sign Up to like & getrecommendations! Published in 2024 at "Glycobiology"
DOI: 10.1093/glycob/cwae004
Abstract: Abstract GNE myopathy (GNEM) is a late-onset muscle atrophy, caused by mutations in the gene for the key enzyme of sialic acid biosynthesis, UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE). With an incidence of one to nine cases… read more here.
Keywords: supplementation; myogenesis c2c12; gne; c2c12 ... See more keywords
Non-GNE Quadriceps Sparing Distal Myopathy in an Iranian Jewish Patient.
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Clinical Neuromuscular Disease"
DOI: 10.1097/cnd.0000000000000231
Abstract: GNE myopathy is an autosomal-recessive distal myopathy. It is caused by a hypomorphic GNE gene, encoding the rate-limiting enzyme in sialic acid synthesis. This myopathy is prevalent in the Iranian Jewish (IJ) descendants because of… read more here.
Keywords: iranian jewish; non gne; quadriceps sparing; gne ... See more keywords
Enhanced hepatic clearance of hyposialylated platelets explains thrombocytopenia in GNE-related macrothrombocytopenia
Sign Up to like & getrecommendations! Published in 2022 at "Blood Advances"
DOI: 10.1182/bloodadvances.2021006830
Abstract: Glucosamine (UDP-N-Acetyl)-2-Epimerase and N-Acetylmannosamine Kinase (GNE) is the rate-limiting enzyme in the synthesis of sialic acid. Mutations in the GNE gene are associated with adult-onset myopathy. Recently, four GNE variants were identified in patients with… read more here.
Keywords: clearance; macrothrombocytopenia; gne related; gne ... See more keywords
Clinical, pathological and genetic characteristics of GNE myopathy: a single-center observational study
Sign Up to like & getrecommendations! Published in 2025 at "BMC Musculoskeletal Disorders"
DOI: 10.1186/s12891-025-09282-8
Abstract: GNE myopathy is a rare autosomal recessive hereditary myopathy resulting in impaired sialic acid biosynthesis. The features of this condition include distal muscle weakness with relatively preserved quadriceps femoris strength and the presence of rimmed… read more here.
Keywords: genetic characteristics; gne; clinical pathological; pathological genetic ... See more keywords