| 1 | OGDH, OGDHD
|
| A biallelic pathogenic variant in the OGDH gene results in a neurological disorder with features of a mitochondrial disease
|
| Yap ZY, Strucinska K, Matsuzaki S, Lee S, Si Y, Humphries K, Tarnopolsky MA, Yoon WH.
|
| J Inherit Metab Dis. Mar;44(2):388-400. doi: 10.1002/jimd.12248. Epub 2020 Jun 24. 2021
|
| 2 | NDDEDV, OGDH, OGDHL
|
| Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia
|
| Yap ZY, Efthymiou S, Seiffert S, Vargas Parra K, Lee S, Nasca A, Maroofian R, Schrauwen I, Pendziwiat M, Jung S, Bhoj E, Striano P, Mankad K, Vona B, Cuddapah S, Wagner A, Alvi JR, Davoudi-Dehaghani E, Fallah MS, Gannavarapu S, Lamperti C, Legati A, Murtaza BN, Nadeem MS, Rehman MU, Saeidi K, Salpietro V, von Spiczak S, Sandoval A, Zeinali S, Zeviani M, Reich A; SYNaPS Study Group; University of Washington Center for Mendelian Genomics, Jang C, Helbig I, Barakat TS, Ghezzi D, Leal SM, Weber Y, Houlden H, Yoon WH.
|
| Am J Hum Genet. Dec 2;108(12):2368-2384. doi: 10.1016/j.ajhg.2021.11.003. Epub 2021 Nov 19. 2021
|
| 3 | OGDH
|
| OGDH promotes the progression of gastric cancer by regulating mitochondrial bioenergetics and Wnt/β-catenin signal pathway
|
| Lu X, Wu N, Yang W, Sun J, Yan K, Wu J.
|
| Onco Targets Ther. Sep 12;12:7489-7500. doi: 10.2147/OTT.S208848. 2019
|
| 4 | NRDC, OGDH
|
| Loss of Nardilysin, a Mitochondrial Co-chaperone for α-Ketoglutarate Dehydrogenase, Promotes mTORC1 Activation and Neurodegeneration
|
| Yoon WH, Sandoval H, Nagarkar-Jaiswal S, Jaiswal M, Yamamoto S, Haelterman NA, Putluri N, Putluri V, Sreekumar A, Tos T, Aksoy A, Donti T, Graham BH, Ohno M, Nishi E, Hunter J, Muzny DM, Carmichael J, Shen J, Arboleda VA, Nelson SF, Wangler MF, Karaca E, Lupski JR, Bellen HJ.
|
| Neuron. Jan 4;93(1):115-131. doi: 10.1016/j.neuron.2016.11.038. Epub 2016 Dec 22. 2017
|
| 5 | OGDH
|
| Cellular thiamine status is coupled to function of mitochondrial 2-oxoglutarate dehydrogenase
|
| Mkrtchyan G, Graf A, Bettendorff L, Bunik V.
|
| Neurochem Int. Dec;101:66-75. doi: 10.1016/j.neuint.2016.10.009. Epub 2016 Oct 20. 2016
|
| 6 | OGDH
|
| Calcium-insensitive splice variants of mammalian E1 subunit of 2-oxoglutarate dehydrogenase complex with tissue-specific patterns of expression
|
| Denton RM, Pullen TJ, Armstrong CT, Heesom KJ, Rutter GA.
|
| Biochem J. May 1;473(9):1165-78. doi: 10.1042/BCJ20160135. Epub 2016 Mar 2. 2016
|
| 7 | OGDH
|
| Phosphono analogues of 2-oxoglutarate protect cerebellar granule neurons upon glutamate excitotoxicity.
|
| Bunik VI, Kabysheva MS, Klimuk EI, Storozhevykh TP, Pinelis VG.
|
| Ann N Y Acad Sci 1171:521-9.
2009
|
| 8 | OGDH, OGDHL
|
| Novel isoenzyme of 2-oxoglutarate dehydrogenase is identified in brain, but not in heart.
|
| Bunik V, Kaehne T, Degtyarev D, Shcherbakova T, Reiser G.
|
| FEBS J 275(20):4990-5006. Epub 2008 Sep 9.
2008
|
| 9 | OGDH
|
| Exclusion of OGDH and BMP4 as candidate genes in two siblings with autosomal recessive DOOR syndrome.
|
| van Bever Y, Balemans W, Duval EL, Jespers A, Eyskens F, van Hul W, Courtens W.
|
| Am J Med Genet A 143(7):763-7. No abstract available.
2007
|
| 10 | OGDH
|
| Identification and mRNA expression of Ogdh, QP-C, and two predicted genes in the postnatal mouse brain.
|
| Sadakata T, Furuichi T.
|
| Neurosci Lett 405(3):217-22. Epub 2006 Aug 9.
2006
|
| 11 | OGDH
|
| Reduction in the E2k subunit of the alpha-ketoglutarate dehydrogenase complex has effects independent of complex activity.
|
| Shi Q, Chen HL, Xu H, Gibson GE.
|
| J Biol Chem 280(12):10888-96. Epub 2005 Jan 12.
2005
|
| 12 | OGDH
|
| Regulation of 2-oxoglutarate (alpha-ketoglutarate) dehydrogenase stability by the RING finger ubiquitin ligase Siah.
|
| Habelhah H, Laine A, Erdjument-Bromage H, Tempst P, Gershwin ME, Bowtell DD, Ronai Z.
|
| J Biol Chem 279(51):53782-8. Epub 2004 Oct 5.
2004
|
| 13 | OGDH
|
| Cloning, structure, chromosomal localization and promoter analysis of human 2-oxoglutarate dehydrogenase gene.
|
| Koike K.
|
| Biochim Biophys Acta 1385 : 373-384. 1998
|
| 14 | OGDH
|
| The gene encoding human 2-oxoglutarate dehydrogenase : structural organization and mapping to chromosome 7p13-p14.
|
| Koike K.
|
| Gene 159 : 261-266. 1995
|
| 15 | OGDH, OGDHL
|
| Localization of the gene (OGDH) coding for the E1k component of the alpha-ketoglutarate dehydrogenase complex to chromosome 7p13-p11.2.
|
| Szabo P, et al.
|
| Genomics 20 : 324-326. 1994
|
| 16 | OGDH, OGDHD
|
| 2-Ketoglutarate dehydrogenase deficiency, a rare cause of primary hyperlactataemia: report of a new case
|
| Guffon N, Lopez-Mediavilla C, Dumoulin R, Mousson B, Godinot C, Carrier H, Collombet JM, Divry P, Mathieu M, Guibaud P.
|
| J Inherit Metab Dis. 16(5):821-30. doi: 10.1007/BF00714273. 1993
|
| 17 | OGDH
|
| Cloning and nucleotide sequence of the cDNA encoding human 2-oxoglutarate dehydrogenase (lipoamide).
|
| Koike K, et al.
|
| Proc Natl Acad Sci U S A 89 : 1963-1967. 1992
|