1 | SDHA, SDHAD
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| Loss of SDHA expression identifies SDHA mutations in succinate dehydrogenase-deficient gastrointestinal stromal tumors.
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| Dwight T, Benn DE, Clarkson A, Vilain R, Lipton L, Robinson BG, Clifton-Bligh RJ, Gill AJ.
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| Am J Surg Pathol 37(2):226-33. doi: 10.1097/PAS.0b013e3182671155. 2013
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2 | SDHA, SDHB
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| Mitochondrial complex II and genomic imprinting in inheritance of paraganglioma tumors.
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| Baysal BE.
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| Biochim Biophys Acta 1827(5):573-7. doi: 10.1016/j.bbabio.2012.12.005. Review.
2013
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3 | SDHA, SDHAD, SDHB, SDHBD
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| Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency.
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| Alston CL, Davison JE, Meloni F, van der Westhuizen FH, He L, Hornig-Do HT, Peet AC, Gissen P, Goffrini P, Ferrero I, Wassmer E, McFarland R, Taylor RW.
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| J Med Genet 49(9):569-77. doi: 10.1136/jmedgenet-2012-101146.
2012
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4 | SDHA, SDHB, SIRT3
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| Succinate dehydrogenase is a direct target of sirtuin 3 deacetylase activity.
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| Finley LW, Haas W, Desquiret-Dumas V, Wallace DC, Procaccio V, Gygi SP, Haigis MC.
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| PLoS One 6(8):e23295. doi: 10.1371/journal.pone.0023295. Epub 2011 Aug 17.
2011
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5 | SDHA, SIRT3
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| Regulation of succinate dehydrogenase activity by SIRT3 in mammalian mitochondria.
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| Cimen H, Han MJ, Yang Y, Tong Q, Koc H, Koc EC.
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| Biochemistry 49(2):304-11.PMID: 20000467 2010
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6 | PGL5, SDHA
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| SDHA is a tumor suppressor gene causing paraganglioma.
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| Burnichon N, Brière JJ, Libé R, Vescovo L, Rivière J, Tissier F, Jouanno E, Jeunemaitre X, Bénit P, Tzagoloff A, Rustin P, Bertherat J, Favier J, Gimenez-Roqueplo AP.
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| Hum Mol Genet 19(15):3011-20. Epub 2010 May 18.PMID: 20484225 2010
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7 | CMD1GG, SDHA
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| Familial neonatal isolated cardiomyopathy caused by a mutation in the flavoprotein subunit of succinate dehydrogenase.
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| Levitas A, Muhammad E, Harel G, Saada A, Caspi VC, Manor E, Beck JC, Sheffield V, Parvari R.
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| Eur J Hum Genet 18(10):1160-5. doi: 10.1038/ejhg.2010.83. Epub 2010 Jun 16.
2010
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8 | BASP1, BRD9, DROSHA, NDUFS6, NNT, OSMR, PAIP1, PAPD7, RAD1, SDHA, SKP2, TARS
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| Integrative genomics analysis of chromosome 5p gain in cervical cancer reveals target over-expressed genes, including Drosha.
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| Scotto L, Narayan G, Nandula SV, Subramaniyam S, Kaufmann AM, Wright JD, Pothuri B, Mansukhani M, Schneider A, Arias-Pulido H, Murty VV.
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| Mol Cancer 7:58. 2008
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9 | SDHA
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| Sequence variation in human succinate dehydrogenase genes: evidence for long-term balancing selection on SDHA.
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| Baysal BE, Lawrence EC, Ferrell RE.
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| BMC Biol 5:12.PMID: 17376234 2007
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10 | SDHA
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| Single nucleotide polymorphisms in succinate dehydrogenase subunits and citrate synthase genes: association results for impaired spermatogenesis.
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| Bonache S, Martínez J, Fernández M, Bassas L, Larriba S.
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| Int J Androl 30(3):144-52. Epub 2007 Feb 12.PMID: 17298551 2007
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11 | SDHA, SDHAD
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| Phenotypic variability of mitochondrial disease caused by a nuclear mutation in complex II.
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| Pagnamenta AT, Hargreaves IP, Duncan AJ, Taanman JW, Heales SJ, Land JM, Bitner-Glindzicz M, Leonard JV, Rahman S.
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| Mol Genet Metab 89(3):214-21. Epub 2006 Jun 23. 2006
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12 | FXN, SDHB, SDHA
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| Frataxin interacts functionally with mitochondrial electron transport chain proteins.
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| Gonzalez-Cabo P, Vazquez-Manrique RP, Garcia-Gimeno MA, Sanz P, Palau F.
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| Hum Mol Genet 14(15):2091-8. Epub 2005 Jun 16. 2005
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13 | SDHA, HIF1A
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| Mitochondrial succinate is instrumental for HIF1alpha nuclear translocation in SDHA-mutant fibroblasts under normoxic conditions.
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| Briere JJ, Favier J, Benit P, El Ghouzzi V, Lorenzato A, Rabier D, Di Renzo MF, Gimenez-Roqueplo AP, Rustin P.
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| Hum Mol Genet 14(21):3263-9. Epub 2005 Sep 29. 2005
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14 | CHAMP1, CYP2E1, DIP2C, DOC2B, FOXD4, FRG1, GAS8, RIC8A, SDHA, TRIM7, ZMYND11
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| Telomere length and the expression of natural telomeric genes in human fibroblasts.
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| Ning Y, Xu JF, Li Y, Chavez L, Riethman HC, Lansdorp PM, Weng NP.
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| Hum Mol Genet 12(11):1329-36. 2003
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15 | BCS1L, C10orf2, COX10, COX10D, COX17, DSPP, FRDA, MNGIE, NARP, NDUFS1, NDUFS2, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NDUFV1D, NF1, OPA1, PGL1, PGL2, PGL3, POLG, SCO1, SCO2, SDHA, SDHB, SDHC, SDHD, SLC25A4, SPG7, SURF1, VHL
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| Nuclear genetic defects of oxidative phosphorylation.
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| Shoubridge EA.
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| Hum Mol Genet 10(20):2277-84. Review. 2001
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16 | SDHA, SDHAD, SDHAL
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| Compound heterozygous mutations in the flavoprotein gene of the respiratory chain complex II in a patient with Leigh syndrome.
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| Parfait B, Chretien D, Rotig A, Marsac C, Munnich A, Rustin P.
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| Hum Genet 106(2):236-43. 2000
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17 | SDHA, SDHAD, SDHAL
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| Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency.
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| Bourgeron T, et al.
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| Nat Genet 11 : 144-149. 1995
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18 | SDHA
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| The cDNA sequence of the flavoprotein subunit of human heart succinate dehydrogenase.
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| Morris AAM, et al.
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| Biochim Biophys Acta 1185 : 125-128. 1994
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19 | SDHA
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| Human complex II (succinate-ubiquinone oxidoreductase) : cDNA cloning ofthe flavoprotein (Fp) subunit of liver mitochondria.
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| Hirawake H, et al.
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| J Biochem 116 : 221-227. 1994
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