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Select item 92332991.

β-Cell Succinate Dehydrogenase Deficiency Triggers Metabolic Dysfunction and Insulinopenic Diabetes

Sooyeon Lee, Haixia Xu, Aidan Van Vleck, Alex M. Mawla, Albert Mao Li, Jiangbin Ye, Mark O. Huising, Justin P. Annes

Diabetes. 2022 Jul; 71(7): 1439–1453. Published online 2022 Apr 26. doi: 10.2337/db21-0834

PMCID:: PMC9233299

Article PDF–82M

Select item 84886642.

Functional succinate dehydrogenase deficiency is a common adverse feature of clear cell renal cancer

Ritesh K. Aggarwal, Rebecca A. Luchtel, Venkata Machha, Alexander Tischer, Yiyu Zou, Kith Pradhan, Nadia Ashai, Nandini Ramachandra, Joseph M. Albanese, Jung-in Yang, Xiaoyang Wang, Srinivas Aluri, Shanisha Gordon, Ahmed Aboumohamed, Benjamin A. Gartrell, Sassan Hafizi, James Pullman, Niraj Shenoy

Proc Natl Acad Sci U S A. 2021 Sep 28; 118(39): e2106947118. Published online 2021 Sep 22. doi: 10.1073/pnas.2106947118

PMCID:: PMC8488664

Article PDF–2.2M

Select item 76600223.

Succinate Dehydrogenase Deficiency: A Treatable Neurometabolic Disorder

Parvaneh KARIMZADEH, Mohammad KERAMATIPOUR, Arezou KARAMZADE, Elham POURBAKHTYARAN

Iran J Child Neurol. 2020 Autumn; 14(4): 111–116.

PMCID:: PMC7660022

Article PDF–1.9M

Select item 74950364.

Role of succinate dehydrogenase deficiency and oncometabolites in gastrointestinal stromal tumors

Yue Zhao, Fei Feng, Qing-Hong Guo, Yu-Ping Wang, Rui Zhao

World J Gastroenterol. 2020 Sep 14; 26(34): 5074–5089. Published online 2020 Sep 14. doi: 10.3748/wjg.v26.i34.5074

PMCID:: PMC7495036

Article PDF–734K

Select item 74468605.

Exploring the link between tumour metabolism and succinate dehydrogenase deficiency: A ¹⁸F-FDOPA PET/CT study in head and neck paragangliomas

Thibaut Reichert, Nicolas Fakhry, Jean-Pierre Lavieille, Vincent Amodru, Frédéric Sebag, Pauline Romanet, Anderson Loundou, Frédéric Castinetti, Karel Pacak, Marion Montava, David Taïeb

Clin Endocrinol (Oxf) Author manuscript; available in PMC 2020 Aug 25.

Published in final edited form as: Clin Endocrinol (Oxf). 2019 Dec; 91(6): 879–884. Published online 2019 Oct 1. doi: 10.1111/cen.14086

PMCID:: PMC7446860

Article PDF–309K

Select item 63745806.

Rapamycin as a potential treatment for succinate dehydrogenase deficiency

Frances Fan, Rheba Sam, Emma Ryan, Katherine Alvarado, Eugenia Villa-Cuesta

Heliyon. 2019 Feb; 5(2): e01217. Published online 2019 Feb 11. doi: 10.1016/j.heliyon.2019.e01217

PMCID:: PMC6374580

Article PDF–733K

Select item 58123187.

Hand-Assisted Laparoscopic Partial Nephrectomy for Large Renal Carcinoma with Succinate Dehydrogenase Deficiency

Ann Buhl Bersang, Sarah Bube, Mikkel Fode, Nessn H. Azawi

J Endourol Case Rep. 2018; 4(1): 12–14. Published online 2018 Feb 1. doi: 10.1089/cren.2017.0140

PMCID:: PMC5812318

Article PDF–271K

Select item 55416938.

Succinate dehydrogenase deficiency in a PDGFRA mutated GIST

Martin G. Belinsky, Kathy Q. Cai, Yan Zhou, Biao Luo, Jianming Pei, Lori Rink, Margaret von Mehren

BMC Cancer. 2017; 17: 512. Published online 2017 Aug 2. doi: 10.1186/s12885-017-3499-7

PMCID:: PMC5541693

Article PDF–1.3M

Select item 47348429.

Cardiac‐specific succinate dehydrogenase deficiency in Barth syndrome

Jan Dudek, I‐Fen Cheng, Arpita Chowdhury, Katharina Wozny, Martina Balleininger, Robert Reinhold, Silke Grunau, Sylvie Callegari, Karl Toischer, Ronald JA Wanders, Gerd Hasenfuß, Britta Brügger, Kaomei Guan, Peter Rehling

EMBO Mol Med. 2016 Feb; 8(2): 139–154. Published online 2015 Dec 23. doi: 10.15252/emmm.201505644

PMCID:: PMC4734842

Article PDF–2.1M

Select item 418407010.

Krebs Cycle Metabolite Profiling for Identification and Stratification of Pheochromocytomas/Paragangliomas due to Succinate Dehydrogenase Deficiency

Susan Richter, Mirko Peitzsch, Elena Rapizzi, Jacques W. Lenders, Nan Qin, Aguirre A. de Cubas, Francesca Schiavi, Jyotsna U. Rao, Felix Beuschlein, Marcus Quinkler, Henri J. Timmers, Giuseppe Opocher, Massimo Mannelli, Karel Pacak, Mercedes Robledo, Graeme Eisenhofer

J Clin Endocrinol Metab. 2014 Oct; 99(10): 3903–3911. Published online 2014 Jul 11. doi: 10.1210/jc.2014-2151

PMCID:: PMC4184070

Article

Select item 396692211.

Succinate Dehydrogenase Deficiency Is Rare in Pituitary Adenomas

Anthony J. Gill, Christopher W. Toon, Adele Clarkson, Loretta Sioson, Angela Chou, Ingrid Winship, Bruce G. Robinson, Diana E. Benn, Roderick J. Clifton-Bligh, Trisha Dwight

Am J Surg Pathol. 2014 Apr; 38(4): 560–566. Published online 2014 Mar 14. doi: 10.1097/PAS.0000000000000149

PMCID:: PMC3966922

Article PDF–926K

Select item 365638312.

Succinate Dehydrogenase Deficiency in Pediatric and Adult Gastrointestinal Stromal Tumors

Martin G. Belinsky, Lori Rink, Margaret von Mehren

Front Oncol. 2013; 3: 117. Prepublished online 2013 Mar 5. Published online 2013 May 17. doi: 10.3389/fonc.2013.00117

PMCID:: PMC3656383

Article PDF–1.7M

Select item 848455113.

Consolidating biallelic SDHD variants as a cause of mitochondrial complex II deficiency

Siying Lin, James Fasham, Fida’ Al-Hijawi, Nouar Qutob, Adam Gunning, Joseph S. Leslie, Lucy McGavin, Nishanka Ubeyratna, Wisam Baker, Ramez Zeid, Peter D. Turnpenny, Andrew H. Crosby, Emma L. Baple, Reham Khalaf-Nazzal

Eur J Hum Genet. 2021 Oct; 29(10): 1570–1576. Published online 2021 May 20. doi: 10.1038/s41431-021-00887-w

PMCID:: PMC8484551

Article PDF–1003K

Select item 775883814.

The genetic basis of isolated mitochondrial complex II deficiency

Millie Fullerton, Robert McFarland, Robert W. Taylor, Charlotte L. Alston

Mol Genet Metab. 2020 Sep-Oct; 131(1-2): 53–65. doi: 10.1016/j.ymgme.2020.09.009

PMCID:: PMC7758838

Article

Select item 449525915.

A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency

Charlotte L. Alston, Camilla Ceccatelli Berti, Emma L. Blakely, Monika Oláhová, Langping He, Colin J. McMahon, Simon E. Olpin, Iain P. Hargreaves, Cecilia Nolli, Robert McFarland, Paola Goffrini, Maureen J. O’Sullivan, Robert W. Taylor

Hum Genet. 2015; 134(8): 869–879. Published online 2015 May 26. doi: 10.1007/s00439-015-1568-z

PMCID:: PMC4495259

Article PDF–1.1M

Select item 350077016.

Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency

Charlotte L Alston, James E Davison, Francesca Meloni, Francois H van der Westhuizen, Langping He, Hue-Tran Hornig-Do, Andrew C Peet, Paul Gissen, Paola Goffrini, Ileana Ferrero, Evangeline Wassmer, Robert McFarland, Robert W Taylor

J Med Genet. 2012 Sep; 49(9): 569–577. doi: 10.1136/jmedgenet-2012-101146