| A novel mutation alters GNE bifunctional enzyme activity and leads to familial inherited GNE diseases. | A novel mutation alters GNE bifunctional enzyme activity and leads to familial inherited GNE diseases.
Li Y, Li W, Fan B, Zhang Y, Li Z, Lin K, Huang K, Yang Z, Ma S, Sun H. | 08/12/2024 |
| Altered autophagic flux in GNE mutant cells of Indian origin: Potential drug target for GNE myopathy. | Altered autophagic flux in GNE mutant cells of Indian origin: Potential drug target for GNE myopathy.
Oswalia J, Singh S, Gautam V, Arya R. | 07/19/2024 |
| GNE myopathy: can homozygous asymptomatic subjects give a clue for the identification of protective factors? | GNE myopathy: can homozygous asymptomatic subjects give a clue for the identification of protective factors?
Mitrani-Rosenbaum S, Attali R, Argov Z. | 11/10/2023 |
| Genetic Analysis of HIBM Myopathy-Specific GNE V727M Hotspot Mutation Identifies a Novel COL6A3 Allied Gene Signature That Is Also Deregulated in Multiple Neuromuscular Diseases and Myopathies. | Genetic Analysis of HIBM Myopathy-Specific GNE V727M Hotspot Mutation Identifies a Novel COL6A3 Allied Gene Signature That Is Also Deregulated in Multiple Neuromuscular Diseases and Myopathies.
Attri S, Lone M, Katiyar A, Sharma V, Kumar V, Verma C, Gahlawat SK., Free PMC Article | 04/14/2023 |
| Glycation Interferes with the Activity of the Bi-Functional UDP-N-Acetylglucosamine 2-Epimerase/N-Acetyl-mannosamine Kinase (GNE). | Glycation Interferes with the Activity of the Bi-Functional UDP-N-Acetylglucosamine 2-Epimerase/N-Acetyl-mannosamine Kinase (GNE).
Hagenhaus V, Gorenflos López JL, Rosenstengel R, Neu C, Hackenberger CPR, Celik A, Weinert K, Nguyen MB, Bork K, Horstkorte R, Gesper A., Free PMC Article | 04/1/2023 |
| Functional characterization of GNE mutations prevalent in Asian subjects with GNE myopathy, an ultra-rare neuromuscular disorder. | Functional characterization of GNE mutations prevalent in Asian subjects with GNE myopathy, an ultra-rare neuromuscular disorder.
Sharma S, Chanana P, Bharadwaj R, Bhattacharya S, Arya R. | 08/27/2022 |
| Motor axonal neuropathy associated with GNE mutations. | Motor axonal neuropathy associated with GNE mutations.
Grecu N, Villa L, Cavalli M, Ristaino A, Choumert A, Butori C, Salviati L, Puma A, Krahn M, Cerino M, Sacconi S. | 06/26/2021 |
| Sialuria-Related Intellectual Disability in Children and Adolescent of Pakistan: Tenth Patient Described has a Novel Mutation in the GNE Gene. | Sialuria-Related Intellectual Disability in Children and Adolescent of Pakistan: Tenth Patient Described has a Novel Mutation in the GNE Gene.
Ishtiaq H, Siddiqui S, Nawaz R, Jamali KS, Khan AG. | 06/19/2021 |
| Congenital thrombocytopenia associated with GNE mutations in twin sisters: a case report and literature review. | Congenital thrombocytopenia associated with GNE mutations in twin sisters: a case report and literature review.
Li X, Li Y, Lei M, Tian J, Yang Z, Kuang S, Tan Y, Bo T., Free PMC Article | 01/9/2021 |
| Upregulation of Hallmark Muscle Genes Protects GneM743T/M743T Mutated Knock-In Mice From Kidney and Muscle Phenotype. | Upregulation of Hallmark Muscle Genes Protects GneM743T/M743T Mutated Knock-In Mice From Kidney and Muscle Phenotype.
Benyamini H, Kling Y, Yakovlev L, Becker Cohen M, Nevo Y, Elgavish S, Harazi A, Argov Z, Sela I, Mitrani-Rosenbaum S., Free PMC Article | 11/21/2020 |
| Results indicate that the GNE gene may be associated with autism spectrum disorder, and it is also related to autistic behavioral performance, such as stereotypical behaviors, autistic mannerisms, and social cognition ability | The level of GNE and its relationship with behavioral phenotypes in children with autism spectrum disorder.
Yang X, Li H, Ge J, Chao H, Li G, Zhou Z, Liu J., Free PMC Article | 08/1/2020 |
| A GNE myopathy diagnosis is evidenced by characteristic clinical manifestations, rimmed vacuoles in muscle biopsies and the presence of biallelic GNE mutations. | Identification of a GNE homozygous mutation in a Han-Chinese family with GNE myopathy.
Wu Y, Yuan L, Guo Y, Lu A, Zheng W, Xu H, Yang Y, Hu P, Gu S, Wang B, Deng H., Free PMC Article | 12/14/2019 |
| IGF-1R activation may rescue apoptotic cell death of GNE deficient cell lines | Role of IGF-1R in ameliorating apoptosis of GNE deficient cells.
Singh R, Chaudhary P, Arya R., Free PMC Article | 10/12/2019 |
| We have identified 9 affected individuals from 3 unrelated families with macrothrombocytopenia and mild to moderate bleeding diathesis inherited due to missense mutations in the glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase (GNE) gene | GNE variants causing autosomal recessive macrothrombocytopenia without associated muscle wasting.
Revel-Vilk S, Shai E, Turro E, Jahshan N, Hi-Am E, Spectre G, Daum H, Kalish Y, Althaus K, Greinacher A, Kaplinsky C, Izraeli S, Mapeta R, Deevi SVV, Jarocha D, Ouwehand WH, Downes K, Poncz M, Varon D, Lambert MP., Free PMC Article | 07/20/2019 |
| The geographic and ethnic distribution of this founder mutation in the Gulf region is supported by reports of the pM743T in association with GNE myopathy in 3 unrelated Arab patients from Saudi Arabia. | GNE myopathy in the bedouin population of Kuwait: Genetics, prevalence, and clinical description.
Alrohaif H, Pogoryelova O, Al-Ajmi A, Aljeryan LA, Alrashidi NH, Alefasi SA, Urtizberea A, Lochmüller H, Bastaki L. | 05/25/2019 |
| GNE mutation is associated with distal myopathy. | GNE myopathy in Chinese population: hotspot and novel mutations.
Chen Y, Xi J, Zhu W, Lin J, Luo S, Yue D, Cai S, Sun C, Zhao C, Mitsuhashi S, Nishino I, Xu M, Lu J. | 03/23/2019 |
| tetrameric structure of sialic acid-synthesizing UDP-GlcNAc 2-epimerase from Acinetobacter baumannii | The tetrameric structure of sialic acid-synthesizing UDP-GlcNAc 2-epimerase from Acinetobacter baumannii: A comparative study with human GNE.
Ko TP, Lai SJ, Hsieh TJ, Yang CS, Chen Y., Free PMC Article | 01/19/2019 |
| 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. | A report on GNE myopathy: Individuals of Rajasthan ancestry share the Roma gene.
Khadilkar SV, Nallamilli BRR, Bhutada A, Hegde M, Gandhi K, Faldu HD, Patil SB. | 09/29/2018 |
| 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. | Mutation in GNE Downregulates Peroxiredoxin IV Altering ER Redox Homeostasis.
Chanana P, Padhy G, Bhargava K, Arya R. | 07/21/2018 |
| 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. | Mutation Spectrum of GNE Myopathy in the Indian Sub-Continent.
Bhattacharya S, Khadilkar SV, Nalini A, Ganapathy A, Mannan AU, Majumder PP, Bhattacharya A. | 06/9/2018 |
| 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. | Genetic Characterization of a French Cohort of GNE-mutation negative inclusion body myopathy patients with exome sequencing.
Cerino M, Gorokhova S, Laforet P, Ben Yaou R, Salort-Campana E, Pouget J, Attarian S, Eymard B, Deleuze JF, Boland A, Behin A, Stojkovic T, Bonne G, Levy N, Bartoli M, Krahn M. | 10/21/2017 |
| 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. | The Interaction of UDP-N-Acetylglucosamine 2-Epimerase/N-Acetylmannosamine Kinase (GNE) and Alpha-Actinin 2 Is Altered in GNE Myopathy M743T Mutant.
Harazi A, Becker-Cohen M, Zer H, Moshel O, Hinderlich S, Mitrani-Rosenbaum S. | 07/8/2017 |
| 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. | Aberrant O-GlcNAcylation disrupts GNE enzyme activity in GNE myopathy.
Bennmann D, Weidemann W, Thate A, Kreuzmann D, Horstkorte R. | 06/24/2017 |
| 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. | Missing genetic variations in GNE myopathy: rearrangement hotspots encompassing 5'UTR and founder allele.
Zhu W, Mitsuhashi S, Yonekawa T, Noguchi S, Huei JC, Nalini A, Preethish-Kumar V, Yamamoto M, Murakata K, Mori-Yoshimura M, Kamada S, Yahikozawa H, Karasawa M, Kimura S, Yamashita F, Nishino I. | 05/27/2017 |
| 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. | Mechanism and inhibition of human UDP-GlcNAc 2-epimerase, the key enzyme in sialic acid biosynthesis.
Chen SC, Huang CH, Lai SJ, Yang CS, Hsiao TH, Lin CH, Fu PK, Ko TP, Chen Y., Free PMC Article | 01/14/2017 |