Property Summary

NCBI Gene PubMed Count 57
Grant Count 15
R01 Count 6
Funding $2,936,538.25
PubMed Score 149.30
PubTator Score 83.18

Knowledge Summary

Patent

No data available

Expression

Gene RIF (36)

PMID Text
26697888 As a similar defect of succinate dehydrogenase is apparent in patient cell-derived cardiomyocytes, the authors conclude that these defects represent a molecular basis for the cardiac pathology in Barth syndrome.
26259135 This study strengthens the etiological association of SDH genes with pituitary neoplasia, renal tumorigenesis, and gastric gastrointestinal stromal tumors. Also, pancreatic neuroendocrine tumor falls within the SDH-related tumor spectrum.
25188872 our findings provide further evidence that patients with KIT/PDGFRA wild-type SDH-deficient GIST harboring SDHA mutations experience good survival outcomes
24781757 Three novel mutations in SDHA were found in patients presenting Leigh syndrome (LS) and/or leukodystrophy.
24414418 Data indicate that SDH5 is protected from mitochondrial LON protease (LONM)-mediated degradation in mitochondria by its stable interaction with SDHA, a state that is dysregulated in hereditary paraganglioma 2 (PGL2).
23956348 Electron transport complex-II and manganese superoxide dismutase (MnSOD) enzyme activities were decreased in obese compared with non-obese pregnant women.
23874603 A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies downregulation of succinate dehydrogenase complex, subunit A (SDHA) expression by HIV-1 Vpr in Vpr transduced macrophages
23797725 A significant subset of bladder paragangliomas is SDH deficient
23743927 SDH deficiency may promote tumorigenesis through accumulation of succinate and inhibition of dioxygenase enzymes. Inhibition of TET activity may, in turn, alter global DNA methylation and gene expression in SDH-deficient tumors.
23633203 In the paraganglioma of the proband, in addition to the germline mutation, a somatic mutation was observed (c.1865G>A, p.Trp622*).
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AA Sequence

MSGVRGLSRLLSARRLALAKAWPTVLQTGTRGFHFTVDGNKRASAKVSDSISAQYPVVDHEFDAVVVGAG      1 - 70
GAGLRAAFGLSEAGFNTACVTKLFPTRSHTVAAQGGINAALGNMEEDNWRWHFYDTVKGSDWLGDQDAIH     71 - 140
YMTEQAPAAVVELENYGMPFSRTEDGKIYQRAFGGQSLKFGKGGQAHRCCCVADRTGHSLLHTLYGRSLR    141 - 210
YDTSYFVEYFALDLLMENGECRGVIALCIEDGSIHRIRAKNTVVATGGYGRTYFSCTSAHTSTGDGTAMI    211 - 280
TRAGLPCQDLEFVQFHPTGIYGAGCLITEGCRGEGGILINSQGERFMERYAPVAKDLASRDVVSRSMTLE    281 - 350
IREGRGCGPEKDHVYLQLHHLPPEQLATRLPGISETAMIFAGVDVTKEPIPVLPTVHYNMGGIPTNYKGQ    351 - 420
VLRHVNGQDQIVPGLYACGEAACASVHGANRLGANSLLDLVVFGRACALSIEESCRPGDKVPPIKPNAGE    421 - 490
ESVMNLDKLRFADGSIRTSELRLSMQKSMQNHAAVFRVGSVLQEGCGKISKLYGDLKHLKTFDRGMVWNT    491 - 560
DLVETLELQNLMLCALQTIYGAEARKESRGAHAREDYKVRIDEYDYSKPIQGQQKKPFEEHWRKHTLSYV    561 - 630
DVGTGKVTLEYRPVIDKTLNEADCATVPPAIRSY                                        631 - 664
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Text Mined References (62)

PMID Year Title
26697888 2016 Cardiac-specific succinate dehydrogenase deficiency in Barth syndrome.
26259135 2015 Succinate Dehydrogenase (SDH)-Deficient Pancreatic Neuroendocrine Tumor Expands the SDH-Related Tumor Spectrum.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25712143 2015 An abnormality in glucocorticoid receptor expression differentiates steroid responders from nonresponders in keloid disease.
25188872 2015 Good survival outcome of metastatic SDH-deficient gastrointestinal stromal tumors harboring SDHA mutations.
24781757 2015 SDHA mutations causing a multisystem mitochondrial disease: novel mutations and genetic overlap with hereditary tumors.
24414418 2014 Mitochondrial matrix proteostasis is linked to hereditary paraganglioma: LON-mediated turnover of the human flavinylation factor SDH5 is regulated by its interaction with SDHA.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23956348 2013 Skeletal muscle MnSOD, mitochondrial complex II, and SIRT3 enzyme activities are decreased in maternal obesity during human pregnancy and gestational diabetes mellitus.
23797725 2013 Identification of succinate dehydrogenase-deficient bladder paragangliomas.
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