Citations for
1CWS2, PGL4, SDHB
Outcomes of annual surveillance imaging in an adult and paediatric cohort of succinate dehydrogenase B mutation carriers.
Tufton N, Shapiro L, Srirangalingam U, Richards P, Sahdev A, Kumar AV, McAndrew L, Martin L, Berney D, Monson J, Chew SL, Waterhouse M, Druce M, Korbonits M, Metcalfe K, Drake WM, Storr HL, Akker SA.
Clin Endocrinol (Oxf) lin Endocrinol (Oxf). 2016 Sep 28. doi: 10.1111/cen.13246. [Epub ahead of print] 2016
2SDHB, SDHBD
Leukoencephalopathy due to Complex II Deficiency and Bi-Allelic SDHB Mutations: Further Cases and Implications for Genetic Counselling.
Grønborg S, Darin N, Miranda MJ, Damgaard B, Cayuela JA, Oldfors A, Kollberg G, Hansen TV, Ravn K, Wibrand F, Østergaard E.
JIMD Rep IMD Rep. 2016 Sep 8. [Epub ahead of print] 2016
3CERS5, SDHB
LASS5 Interacts with SDHB and Synergistically Represses p53 and p21 Activity.
Jiang Z, Li F, Wan Y, Han Z, Yuan W, Cao L, Deng Y, Peng X, Chen F, Fan X, Liu X, Dai G, Wang Y, Zeng Q, Shi Y, Zhou Z, Chen Y, Xu W, Luo S, Chen S, Ye X, Mo X, Wu X, Li Y
Curr Mol Med. 16(6):582-90. doi: 10.2174/1566524016666160607090012. 2016
4CWS2, PGL4, SDHB
Structural and functional consequences of succinate dehydrogenase subunit B mutations.
Kim E, Rath EM, Tsang VH, Duff AP, Robinson BG, Church WB, Benn DE, Dwight T, Clifton-Bligh RJ.
Endocr Relat Cancer 22(3):387-97. doi: 10.1530/ERC-15-0099. 2015
5SDHB
Signalling pathways in succinate dehydrogenase B-associated renal carcinoma.
Fleming S, Mayer NJ, Vlatkovic LJ, McLean J, McConachie M, Baty D.
Histopathology 64(4):477-83. doi: 10.1111/his.12250. 2014
6PGL4, SDHB
The presence of SDHB mutations should modify surgical indications for carotid body paragangliomas.
Ellis RJ, Patel D, Prodanov T, Nilubol N, Pacak K, Kebebew E.
Ann Surg 260(1):158-62. doi: 10.1097/SLA.0000000000000283. 2014
7SDHA, SDHB
Mitochondrial complex II and genomic imprinting in inheritance of paraganglioma tumors.
Baysal BE.
Biochim Biophys Acta 1827(5):573-7. doi: 10.1016/j.bbabio.2012.12.005. Review. 2013
8SDHA, SDHAD, SDHB, SDHBD
Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency.
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.
J Med Genet 49(9):569-77. doi: 10.1136/jmedgenet-2012-101146. 2012
9SDHB
Missense mutations in the human SDHB gene increase protein degradation without altering intrinsic enzymatic function.
Yang C, Matro JC, Huntoon KM, Ye DY, Huynh TT, Fliedner SM, Breza J, Zhuang Z, Pacak K.
FASEB J 26(11):4506-16. doi: 10.1096/fj.12-210146. 2012
10SDHB
Loss of succinate dehydrogenase subunit B (SDHB) expression is limited to a distinctive subset of gastric wild-type gastrointestinal stromal tumours: a comprehensive genotype-phenotype correlation study.
Doyle LA, Nelson D, Heinrich MC, Corless CL, Hornick JL.
Histopathology 61(5):801-9. doi: 10.1111/j.1365-2559.2012.04300.x. 2012
11SDHA, SDHB, SIRT3
Succinate dehydrogenase is a direct target of sirtuin 3 deacetylase activity.
Finley LW, Haas W, Desquiret-Dumas V, Wallace DC, Procaccio V, Gygi SP, Haigis MC.
PLoS One 6(8):e23295. doi: 10.1371/journal.pone.0023295. Epub 2011 Aug 17. 2011
12SDHB, SDHD
Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD.
Ricketts CJ, Forman JR, Rattenberry E, Bradshaw N, Lalloo F, Izatt L, Cole TR, Armstrong R, Kumar VK, Morrison PJ, Atkinson AB, Douglas F, Ball SG, Cook J, Srirangalingam U, Killick P, Kirby G, Aylwin S, Woodward ER, Evans DG, Hodgson SV, Murday V, Chew SL, Connell JM, Blundell TL, Macdonald F, Maher ER.
Hum Mutat 31(1):41-51.PMID: 19802898 2010
13PGL4, SDHB
Paraganglioma, neuroblastoma, and a SDHB mutation: Resolution of a 30-year-old mystery.
Schimke RN, Collins DL, Stolle CA.
Am J Med Genet A 152A(6):1531-5.PMID: 20503330 2010
14PGL4, SDHB
Penetrance and clinical consequences of a gross SDHB deletion in a large family.
Solis DC, Burnichon N, Timmers HJ, Raygada MJ, Kozupa A, Merino MJ, Makey D, Adams KT, Venisse A, Gimenez-Roqueplo AP, Pacak K.
Clin Genet 75(4):354-63. 2009
15SDHB, SDHC, SDHD, TIMM8B
Molecular characterization of novel germline deletions affecting SDHD and SDHC in pheochromocytoma and paraganglioma patients.2009 PMID:
Bayley JP, Weiss MM, Grimbergen A, van Brussel BT, Hes FJ, Jansen JC, Verhoef S, Devilee P, Corssmit EP, Vriends AH.
Endocr Relat Cancer. Sep;16(3):929-37. doi: 10.1677/ERC-09-0084. Epub 2009 Jun 22. 2009
16SDHB, PGL4
Molecular characterisation of a common SDHB deletion in paraganglioma patients.
Cascn A, Landa I, Lpez-Jiménez E, Dez-Hernndez A, Buchta M, Montero-Conde C, Leskel S, Leandro-Garca LJ, Letn R, Rodrguez-Antona C, Eng C, Neumann HP, Robledo M.
J Med Genet 45(4):233-8. Epub 2007 Dec 5. 2008
17SDHB, SDHD
Germline mutations and variants in the succinate dehydrogenase genes in Cowden and Cowden-like syndromes.
Ni Y, Zbuk KM, Sadler T, Patocs A, Lobo G, Edelman E, Platzer P, Orloff MS, Waite KA, Eng C.
Am J Hum Genet 83(2):261-8. 2008
18PGL1, PGL2, PGL3, PGL4, SDHB, SDHC SDHD
Clinical and molecular progress in hereditary paraganglioma.
Baysal BE.
J Med Genet 45(11):689-94. 2008
19PGL4, SDHB
Biochemically silent abdominal paragangliomas in patients with mutations in the succinate dehydrogenase subunit B gene.
Timmers HJ, Pacak K, Huynh TT, Abu-Asab M, Tsokos M, Merino MJ, Baysal BE, Adams KT, Eisenhofer G.
J Clin Endocrinol Metab 93(12):4826-32. Epub 2008 Oct 7. 2008
20SDHB
Germline SDHB mutations and familial renal cell carcinoma.
Ricketts C, Woodward ER, Killick P, Morris MR, Astuti D, Latif F, Maher ER.
J Natl Cancer Inst 100(17):1260-2. Epub 2008 Aug 26. 2008
21CWS2, CWS3, SDHB, SDHD
Germline mutations and variants in the succinate dehydrogenase genes in Cowden and Cowden-like syndromes.
Ni Y, Zbuk KM, Sadler T, Patocs A, Lobo G, Edelman E, Platzer P, Orloff MS, Waite KA, Eng C.
Am J Hum Genet 83(2):261-8. doi: 10.1016/j.ajhg.2008.07.011. 2008
22SDHB
Malignant paragangliomas associated with mutations in the succinate dehydrogenase d gene.
Havekes B, Corssmit EP, Jansen JC, van der Mey AG, Vriends AH, Romijn JA.
J Clin Endocrinol Metab 92(4):1245-8. Epub 2007 Jan 16. 2007
23SDHB, SDHD
Novel germline mutations in the SDHB and SDHD genes in Japanese pheochromocytomas.
Isobe K, Minowada S, Tatsuno I, Suzukawa K, Nissato S, Nanmoku T, Hara H, Yashiro T, Kawakami Y, Takekoshi K.
Horm Res 68(2):68-71. Epub 2007 Feb 15. 2007
24PGL4, SDHB
High frequency of SDHB germline mutations in patients with malignant catecholamine-producing paragangliomas: implications for genetic testing.
Brouwers FM, Eisenhofer G, Tao JJ, Kant JA, Adams KT, Linehan WM, Pacak K.
J Clin Endocrinol Metab 91(11):4505-9. Epub 2006 Aug 15. 2006
25PGL1, PGL2, PGL3, PGL4, PGL5, SDHB, SDHD, SDHC
Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes.
Benn DE, Gimenez-Roqueplo AP, Reilly JR, Bertherat J, Burgess J, Byth K, Croxson M, Dahia PL, Elston M, Gimm O, Henley D, Herman P, Murday V, Niccoli-Sire P, Pasieka JL, Rohmer V, Tucker K, Jeunemaitre X, Marsh DJ, Plouin PF, Robinson BG.
J Clin Endocrinol Metab 91(3):827-36. Epub 2005 Nov 29. 2006
26FXN, SDHB, SDHA
Frataxin interacts functionally with mitochondrial electron transport chain proteins.
Gonzalez-Cabo P, Vazquez-Manrique RP, Garcia-Gimeno MA, Sanz P, Palau F.
Hum Mol Genet 14(15):2091-8. Epub 2005 Jun 16. 2005
27SDHB
Early-onset renal cell carcinoma as a novel extraparaganglial component of SDHB-associated heritable paraganglioma.
Vanharanta S, Buchta M, McWhinney SR, Virta SK, Peczkowska M, Morrison CD, Lehtonen R, Januszewicz A, Jarvinen H, Juhola M, Mecklin JP, Pukkala E, Herva R, Kiuru M, Nupponen NN, Aaltonen LA, Neumann HP, Eng C.
Am J Hum Genet 74(1):153-9. Epub 2003 Dec 18. 2004
28SDHB, SDHD
SDHB, SDHC, and SDHD mutation screen in sporadic and familial head and neck paragangliomas.
Mhatre AN, Li Y, Feng L, Gasperin A, Lalwani AK.
Clin Genet 66(5):461-6. 2004
29SDHB
Mutations in the SDHB gene are associated with extra-adrenal and/or malignant phaeochromocytomas.
Gimenez-Roqueplo AP, Favier J, Rustin P, Rieubland C, Crespin M, Nau V, Khau Van Kien P, Corvol P, Plouin PF, Jeunemaitre X; COMETE Network.
Cancer Res 63(17):5615-21. 2003
30PGL1, PGL2, PGL3, PGL4, SDHB, SDHC, SDHD
Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas.
Baysal BE, Willett-Brozick JE, Lawrence EC, Drovdlic CM, Savul SA, McLeod DR, Yee HA, Brackmann DE, Slattery WH 3rd, Myers EN, Ferrell RE, Rubinstein WS.
J Med Genet 39(3):178-83. 2002
31SDHB
Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma.
Astuti D, Latif F, Dallol A, Dahia PL, Douglas F, George E, Skoldberg F, Husebye ES, Eng C, Maher ER.
Am J Hum Genet 69(1):49-54. 2001
32BCS1L, 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
Nuclear genetic defects of oxidative phosphorylation.
Shoubridge EA.
Hum Mol Genet 10(20):2277-84. Review. 2001
33SDHB
The gene for the iron sulfur protein of succinate dehydrogenase (SDH-IP) maps to human chromosome 1p35-36.1.
Leckschat S, et al.
Somat Cell Mol Genet 19 : 505-511. 1993
34SDHB
Human complex II (succinate-ubiquinone oxidoreductase) : cDNA cloning ofiron sulfur (Ip) subunit of liver mitochondria.
Kita K, et al.
Biochem Biophys Res Commun 166 : 101-108. 1990
35SDHB
Assignment of a gene for succinate dehydrogenase to human chromosome 1 by somatic cell hybridization.
Mascarello JT, Soderberg K, Scheffler IE.
Cytogenet Cell Genet 28 : 121-135. 1980