Condition: Mitochondrial Complex II Deficiency


rs1061517 in CCDC127;SDHA gene and Mitochondrial Complex II Deficiency PMID 15989954 2005 Crystal structure of mitochondrial respiratory membrane protein complex II.

PMID 25488574 2016 Protein-mediated assembly of succinate dehydrogenase and its cofactors.

PMID 21858060 2011 Succinate dehydrogenase is a direct target of sirtuin 3 deacetylase activity.

PMID 10746566 2000 Compound heterozygous mutations in the flavoprotein gene of the respiratory chain complex II in a patient with Leigh syndrome.

PMID 26722403 2015 A novel germline mutation in SDHA identified in a rare case of gastrointestinal stromal tumor complicated with renal cell carcinoma.

rs1057523165 in SDHA gene and Mitochondrial Complex II Deficiency PMID 24781757 2015 SDHA mutations causing a multisystem mitochondrial disease: novel mutations and genetic overlap with hereditary tumors.

PMID 22974104 2012 SDHA loss of function mutations in a subset of young adult wild-type gastrointestinal stromal tumors.

PMID 26259135 2015 Succinate Dehydrogenase (SDH)-Deficient Pancreatic Neuroendocrine Tumor Expands the SDH-Related Tumor Spectrum.

PMID 23174939 2013 SDHA mutations in adult and pediatric wild-type gastrointestinal stromal tumors.

PMID 25494863 2015 Heterogeneous genetic background of the association of pheochromocytoma/paraganglioma and pituitary adenoma: results from a large patient cohort.

PMID 26173966 2016 Carney triad can be (rarely) associated with germline succinate dehydrogenase defects.

PMID 23666964 2013 A comprehensive next generation sequencing-based genetic testing strategy to improve diagnosis of inherited pheochromocytoma and paraganglioma.

PMID 21752896 2011 SDHA immunohistochemistry detects germline SDHA gene mutations in apparently sporadic paragangliomas and pheochromocytomas.

PMID 22955521 2013 Loss of expression of SDHA predicts SDHA mutations in gastrointestinal stromal tumors.

PMID 21505157 2011 SDHA loss-of-function mutations in KIT-PDGFRA wild-type gastrointestinal stromal tumors identified by massively parallel sequencing.

PMID 28546994 2017 SDHA related tumorigenesis: a new case series and literature review for variant interpretation and pathogenicity.

PMID 25405498 2015 SDHD immunohistochemistry: a new tool to validate SDHx mutations in pheochromocytoma/paraganglioma.

PMID 23612575 2014 Analysis of all subunits, SDHA, SDHB, SDHC, SDHD, of the succinate dehydrogenase complex in KIT/PDGFRA wild-type GIST.

PMID 23043141 2012 Flavinylation and assembly of succinate dehydrogenase are dependent on the C-terminal tail of the flavoprotein subunit.

PMID 20484225 2010 SDHA is a tumor suppressor gene causing paraganglioma.

PMID 25720320 2015 SDHB/SDHA immunohistochemistry in pheochromocytomas and paragangliomas: a multicenter interobserver variation analysis using virtual microscopy: a Multinational Study of the European Network for the Study of Adrenal Tumors (ENS@T).

PMID 23109135 2013 Overexpression of insulin-like growth factor 1 receptor and frequent mutational inactivation of SDHA in wild-type SDHB-negative gastrointestinal stromal tumors.

PMID 23750034 2013 Germline SDHA mutation detected by next-generation sequencing in a young index patient with large paraganglioma.

PMID 24694336 2014 Rare germline mutations identified by targeted next-generation sequencing of susceptibility genes in pheochromocytoma and paraganglioma.

rs137853192 in SDHAF1 gene and Mitochondrial Complex II Deficiency PMID 22995659 2012 Leukoencephalopathy with accumulated succinate is indicative of SDHAF1 related complex II deficiency.

PMID 26749241 2016 Disease-Causing SDHAF1 Mutations Impair Transfer of Fe-S Clusters to SDHB.

PMID 19465911 2009 SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy.