GNE Antibody

1. Two most common mutations including c.2179G>A(p.V727M) and c.1853T>C(p.I618T) were detected in majority of tested GNE myopathy cases. c.920T>G(p.F207C) and c.1664C>T(p.A555V) were next common variants detected. Total of 4 novel variants were identified including c.95T>C(p.M32T), c.490_491dupAT, c.920T>G(p.F307C) and c.1822C>A(p.P608T). Rajsthani people share this gene with the founder mutation of Roma. PMID: 28320138
2. The differential proteome profile of HEK293 cells overexpressing pathologically relevant recombinant mutant GNE protein (D207V and V603L) was analyzed. Significant reduction in mRNA and protein levels of PrdxIV was observed in GNE mutant cell lines compared with vector control. The ER redox state was significantly affected due to reduced normal GNE enzyme activity. PMID: 28895049
3. Thirty-five different mutations in the GNE gene were recorded in a cohort of GNE-myopathy patients from the Indian subcontinent. p.Val727Met is likely to be a founder mutation of Indian subcontinent. PMID: 29480215
4. This study showed thatsSeven patients out of 20 were found to have disease-causing mutations in genes associated with inclusion body myopathy genes allowing for inclusion body myopathy in the differential diagnosis or associated with unexpected diagnosis. PMID: 28256728
5. the interaction between GNE and alpha-actinin 1 and alpha-actinin 2 occur at different sites in the alpha-actinin molecules and that for alpha-actinin 2 the interaction site is located at the C-terminus of the protein. PMID: 27023225
6. the half-life of the M743T variant is two times longer than for the wild-type GNE protein. This study provides that the balance of phosphorylation and O-GlcNAcylation is decisive involved in efficiency and regulation of GNE. PMID: 27037841
7. The results of this study widen the spectra of mutations to copy number variations encompassing 5'UTR, underscoring the pivotal role of the hGNE1 transcript in GNE myopathy. PMID: 27829678
8. the complex crystal structure of the N-terminal epimerase part of human GNE shows a tetramer in which UDP binds to the active site and CMP-Neu5Ac binds to the dimer-dimer interface. PMID: 26980148
9. This study confirms that c.2228T>C (p.M743T) is the most prevalent disease-causing variant in the non-Jewish Persian population, but other GNE variants can cause GNE myopathy in this population. PMID: 25966635
10. examined the consequences of the mutated GNEM743T enzyme in myoblasts cultures, depicted by the pattern of central signaling proteins of the PI3K/AKT, BCL2 and ARTS/XIAP pathways PMID: 25510413
11. Novel GNE mutations were linked to GNE myopathy in patients from mainland China. PMID: 25986339
12. GNE is a master regulator of sialic acid synthesis in the vertebrates. (Review) PMID: 23842869
13. mutation in UDP-N-acetylglucosamine2-epimerase/N-acetylmannosamine kinase (GNE) affects beta1-integrin-mediated cell adhesion process in GNE mutant cells PMID: 24474513
14. GNE myopathy is an autosomal recessive muscle disease caused by biallelic mutations in GNE, a gene encoding for a single protein with key enzymatic activities--{REVIEW} PMID: 25002140
15. Multiple GNE mutations are associated with GNE myopathy. PMID: 24796702
16. NCBI GenBank accession numbers for the two major isoforms hGNE1 and hGNE2 and their ENSEMBL IDs, as well as discussion of nomenclature changes PMID: 24685570
17. In two Jewish Iranian unrelated families with hereditary inclusion body myopathy, 6 patients were found homozygous for the c.2135 T>C (p.M712T) mutation in exon 12 of GNE. PMID: 23841835
18. the prevalence of GNE p.M712T and hereditary inclusion body myopathy is higher in the Sangesar population, comprised mostly of Muslim and Bahai descendants, compared with the general world population PMID: 23278550
19. we report the mutation profile of the GNE gene in 212 Japanese GNE myopathy patients, which is the largest single-ethnic cohort for this ultra-orphan disease PMID: 24027297
20. The results of this study showed the presence of a common mutation in GNE gene in patient with myopathy in India. PMID: 24005727
21. Clinical features of GNE myopathy was not associated with the site of mutation within the GNE gene. PMID: 23549799
22. Eight novel GNE mutations were discovered among seven patients with autosomal recessive hereditaryclusion body myopathy. Of the eight novel GNE mutations, seven were missense and one was nonsense. PMID: 23437777
23. Gne (M712T/M712T)knockin offspring generations could be classified into 3 phenotypic categories: severe, mild & without apparent phenotype. Gne defects can affect both muscle & kidney in mouse, but probably through different mechanisms. PMID: 23238814
24. One nonsense mutation and 5 missense mutations wre identified in the GNE gene in chinese patients with distal myopathy with rimmed vacuoles. PMID: 21868336
25. Participants with homozygous mutations in the N-acetylmannosamine kinase domain have an earlier disease onset than heterozygous participants with mutations in the uridine diphosphate-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase domains. PMID: 22507750
26. This stuidy demonistrated that some patients with GNE mutations were associated with a distinct phenotype of limb-girdle myopathy. PMID: 22883483
27. The results of this study indicated that no cases showed missense mutations in the GNE. PMID: 22349865
28. The results of this study defined a pattern of muscle involvement that appears peculiar to GNE myopathy PMID: 22231866
29. Eighteen mutations in GNE gene are identified in Chinese distal myopathy with rimmed vacuoles patients. PMID: 22196754
30. analysis of the crystal structures of the human N-acetylmannosamine kinase (MNK) domain of UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase in complexes with ManNAc PMID: 22343627
31. GNE up-regulation occurred predominantly in pancreatic cancer but also in other malignancies. PMID: 22049060
32. Identification, tissue distribution, and molecular modeling of novel human isoforms of the key enzyme in sialic acid synthesis, UDP-GlcNAc 2-epimerase/ManNAc kinase PMID: 21910480
33. Stable knock-down of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE), the key enzyme in the sialic acid biosynthetic pathway, dramatically increases incorporation of N-acetylmannosamine analogues into glycoproteins. PMID: 21584309
34. The linkage scan excluded the majority of known myopathy genes, but one linkage peak included the gene GNE, in which mutations cause autosomal recessive hereditary inclusion body myopathy type 2 (HIBM2). PMID: 21708040
35. two unrelated American hereditary inclusion body myopathy type 2 patients with novel GNE mutations PMID: 21131200
36. 2 Italian sisters affected with autosomal-recessive hereditary inclusion-body myopathy were compound heterozygous for a novel GNE mutation: a p.A310P amino acid change along with a p.R246W mutation on second allele both in the epimerase domain PMID: 20346669
37. Based on our clinical experience and on the growing number of mutations reported, GNE mutations are not rare and should be ruled out in all patients presenting with a distal vacuolar myopathy, either autosomically recessive inherited or sporadic. PMID: 20300792
38. Ten novel mutations were identified among nine patients, including four nonsense (p.R8X, p.W204X, p.Q436X, and p.S615X) and five missense (p.R71W, p.I142T, p.I298T, p.L556S, and p.E2G) variations spanning both the epimerase and kinase domains of GNE. PMID: 20059379
39. modeling of active sites of human GNE/MNK and identification of critical amino acid residues responsible for interactions with substrates. PMID: 19917666
40. in 2 sibs with hereditary inclusion body myopathy,mutation analysis revealed compound heterozygous mutations in GNE gene:missense mutation (c.2086G >A; p.V696M) & novel frame shift mutation(c.1295delA; p.K432RfsX17)leading to a premature stopcodon PMID: 20175955
41. These data therefore suggest a role of GNE1 in basic supply of cells with sialic acids, whereas splice variants GNE2 and GNE3 may have a function in fine-tuning of the sialic acid pathway. PMID: 18815882
42. the crystal structure of the kinase domain of GNE provides a structural basis for understanding disease-causing mutations and a model of hexameric wild type full length enzyme PMID: 19841673
43. Suggested as a candidate gene for a dominant syndrome that consists of inclusion body myopathy, Paget disease of bone, and dementia. PMID: 11749051
44. Two siblings heterozygous for the mutations A460V and V572L. Both sibs had Nonaka myopathy (OMIM 605820). PMID: 11916006
45. Three novel missense mutations in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene have been detected in Japanese patients with distal myopathy with rimmed vacuoles (DMRV). PMID: 12177386
46. A novel mutation in the GNE gene and a linkage disequilibrium in Japanese pedigrees PMID: 12325084
47. Mutations spectrum of GNE in hereditary inclusion body myopathy sparing the quadriceps. PMID: 12497639
48. Expression studies indicate that GNE has a tissue-specific splice pattern, with four splice variants. PMID: 12921793
49. UDP-GlcNAc 2-epimerase/ManNAc kinase expression is regulated on the transcriptional level by DNA methylation PMID: 12927803
50. identified pathogenic mutations in the gene encoding the bifunctional enzyme UDP-GlcNAc 2-epimerase/ManNAc kinase, which catalyzes the initial two steps in the biosynthesis of sialic acid PMID: 14707127

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HGNC: 23657

OMIM: 269921

KEGG: hsa:10020

STRING: 9606.ENSP00000379839

UniGene: Hs.5920