| D-2-hydroxyglutarate dehydrogenase in breast carcinoma as a potent prognostic marker associated with proliferation. | D-2-hydroxyglutarate dehydrogenase in breast carcinoma as a potent prognostic marker associated with proliferation.
Hayashi C, Takagi K, Sato A, Yamaguchi M, Minemura H, Miki Y, Harada-Shoji N, Miyashita M, Sasano H, Suzuki T. | 04/2/2022 |
| MYC Regulation of D2HGDH and L2HGDH Influences the Epigenome and Epitranscriptome. | MYC Regulation of D2HGDH and L2HGDH Influences the Epigenome and Epitranscriptome.
Qiu Z, Lin AP, Jiang S, Elkashef SM, Myers J, Srikantan S, Sasi B, Cao JZ, Godley LA, Rakheja D, Lyu Y, Zheng S, Madesh M, Shiio Y, Dahia PLM, Aguiar RCT., Free PMC Article | 05/22/2021 |
| Adult diffuse glioma GWAS by molecular subtype identifies variants in D2HGDH and FAM20C. | Adult diffuse glioma GWAS by molecular subtype identifies variants in D2HGDH and FAM20C.
Eckel-Passow JE, Drucker KL, Kollmeyer TM, Kosel ML, Decker PA, Molinaro AM, Rice T, Praska CE, Clark L, Caron A, Abyzov A, Batzler A, Song JS, Pekmezci M, Hansen HM, McCoy LS, Bracci PM, Wiemels J, Wiencke JK, Francis S, Burns TC, Giannini C, Lachance DH, Wrensch M, Jenkins RB., Free PMC Article | 03/20/2021 |
| Study presents the functional characterization of 31 D2HGDH missense variants, and the identification of 10 novel variants in a large cohort of patients with D-2-hydroxyglutaric aciduria Type I. The functional tests proved effective in classifying missense variants associated with severely impaired D-2-HGDH activity. | D-2-hydroxyglutaric aciduria Type I: Functional analysis of D2HGDH missense variants.
Pop A, Struys EA, Jansen EEW, Fernandez MR, Kanhai WA, van Dooren SJM, Ozturk S, van Oostendorp J, Lennertz P, Kranendijk M, van der Knaap MS, Gibson KM, van Schaftingen E, Salomons GS., Free PMC Article | 03/21/2020 |
| hD2HGDH directly reduces recombinant human ETF, thus establishing a metabolic link between the oxidation of D-2-hydroxyglutarate and the mitochondrial electron transport chain. | Biochemical characterization of human D-2-hydroxyglutarate dehydrogenase and two disease related variants reveals the molecular cause of D-2-hydroxyglutaric aciduria.
Toplak M, Brunner J, Schmidt J, Macheroux P. | 01/18/2020 |
| D2HGDH-GAL3ST2 is more frequently seen in prostate cancer samples, and seems to be enriched in African Americans. | Recurrent cis-SAGe chimeric RNA, D2HGDH-GAL3ST2, in prostate cancer.
Qin F, Song Z, Chang M, Song Y, Frierson H, Li H., Free PMC Article | 07/29/2017 |
| D2HGDH elevates alpha-KG levels via IDH2 expression modulation, influencing histone and DNA methylation, and HIF1alpha hydroxylation. D2HGDH mutants found in diffuse large B-cell lymphoma are enzymatically inert. | D2HGDH regulates alpha-ketoglutarate levels and dioxygenase function by modulating IDH2.
Lin AP, Abbas S, Kim SW, Ortega M, Bouamar H, Escobedo Y, Varadarajan P, Qin Y, Sudderth J, Schulz E, Deutsch A, Mohan S, Ulz P, Neumeister P, Rakheja D, Gao X, Hinck A, Weintraub ST, DeBerardinis RJ, Sill H, Dahia PL, Aguiar RC., Free PMC Article | 04/16/2016 |
| D2HGDH mutation is not associated with glioblastoma. | Screen for IDH1, IDH2, IDH3, D2HGDH and L2HGDH mutations in glioblastoma.
Krell D, Assoku M, Galloway M, Mulholland P, Tomlinson I, Bardella C., Free PMC Article | 12/3/2011 |
| We did not find evidence for mutations in the genes D2HGDH and L2HGDH as an alternative mechanism for raised 2-hydroxyglutarate levels in brain tumours | Mutational analysis of D2HGDH and L2HGDH in brain tumours without IDH1 or IDH2 mutations.
Brehmer S, Pusch S, Schmieder K, von Deimling A, Hartmann C, Brehmer S, Pusch S, Schmieder K, von Deimling A, Hartmann C. | 06/25/2011 |
| Observational study of gene-disease association. (HuGE Navigator) | Mutational analysis of D2HGDH and L2HGDH in brain tumours without IDH1 or IDH2 mutations.
Brehmer S, Pusch S, Schmieder K, von Deimling A, Hartmann C, Brehmer S, Pusch S, Schmieder K, von Deimling A, Hartmann C. | 12/5/2010 |
| This enzyme assay will have utility in differentiating patients with 2-hydroxyglutaric aciduria and in assessing the residual activities linked to pathogenic mutations in the D2HGDH gene | Measurement of D: -2-hydroxyglutarate dehydrogenase activity in cell homogenates derived from D: -2-hydroxyglutaric aciduria patients.
Wickenhagen WV, Salomons GS, Gibson KM, Jakobs C, Struys EA. | 01/21/2010 |
| Two novel pathogenic mutations in D-2-hydroxyglutarate dehydrogenase gene in patient with a mild presentation and asymptomatic siblings with D-2-hydroxyglutaric aciduria with a splice error (IVS4-2A-->G) and a missense mutation (c.1315A-->G;p.Asn439Asp). | Mutations in phenotypically mild D-2-hydroxyglutaric aciduria.
Struys EA, Korman SH, Salomons GS, Darmin PS, Achouri Y, van Schaftingen E, Verhoeven NM, Jakobs C. | 01/21/2010 |