scholarly journals Exome sequencing identifies NFS 1 deficiency in a novel Fe‐S cluster disease, infantile mitochondrial complex II / III deficiency

2013 ◽  
Vol 2 (1) ◽  
pp. 73-80 ◽  
Author(s):  
Sali M. K. Farhan ◽  
Jian Wang ◽  
John F. Robinson ◽  
Piya Lahiry ◽  
Victoria M. Siu ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Mitochondrial Complex ◽  
Complex Ii

Discovery of 1,2,4-triazole-1,3-disulfonamides as dual inhibitors of mitochondrial complex II and complex III

2015 ◽  
Vol 39 (9) ◽  
pp. 7281-7292 ◽  
Author(s):  
Hua Cheng ◽  
Yan-Qing Shen ◽  
Xia-Yan Pan ◽  
Yi-Ping Hou ◽  
Qiong-You Wu ◽  
...  
Keyword(s):  
Complex Iii ◽  
Dual Function ◽  
Mitochondrial Complex ◽  
Complex Ii ◽  
Dual Inhibitors

1,2,4-Triazole-1,3-disulfonamide derivatives as dual function inhibitors of mitochondrial complex II (SQR) and complex III (cyt bc1) were discovered.

scholarly journals Succinate dehydrogenase (SDHx) mutations in pituitary tumors: could this be a new role for mitochondrial complex II and/or Krebs cycle defects?

2012 ◽  
Vol 19 (6) ◽  
pp. C33-C40 ◽  
Author(s):  
Paraskevi Xekouki ◽  
Constantine A Stratakis
Keyword(s):  
Thyroid Cancer ◽  
Succinate Dehydrogenase ◽  
Krebs Cycle ◽  
Pituitary Tumors ◽  
Tricarboxylic Acid ◽  
Genetic Defects ◽  
Disease Phenotype ◽  
Cowden Disease ◽  
Mitochondrial Complex ◽  
Complex Ii

Succinate dehydrogenase (SDH) or mitochondrial complex II is a multimeric enzyme that is bound to the inner membrane of mitochondria and has a dual role as it serves both as a critical step of the tricarboxylic acid or Krebs cycle and as a member of the respiratory chain that transfers electrons directly to the ubiquinone pool. Mutations in SDH subunits have been implicated in the formation of familial paragangliomas (PGLs) and/or pheochromocytomas (PHEOs) and in Carney–Stratakis syndrome. More recently, SDH defects were associated with predisposition to a Cowden disease phenotype, renal, and thyroid cancer. We recently described a kindred with the coexistence of familial PGLs and an aggressive GH-secreting pituitary adenoma, harboring anSDHDmutation. The pituitary tumor showed loss of heterozygosity at theSDHDlocus, indicating the possibility thatSDHD's loss was causatively linked to the development of the neoplasm. In total, 29 cases of pituitary adenomas presenting in association with PHEOs and/or extra-adrenal PGLs have been reported in the literature since 1952. Although a number of other genetic defects are possible in these cases, we speculate that the association of PHEOs and/or PGLs with pituitary tumors is a new syndromic association and a novel phenotype for SDH defects.

scholarly journals Large Germline Deletions of Mitochondrial Complex II Subunits SDHB and SDHD in Hereditary Paraganglioma

2004 ◽  
Vol 89 (11) ◽  
pp. 5694-5699 ◽  
Author(s):  
Sarah R. McWhinney ◽  
Robert T. Pilarski ◽  
Shawnia R. Forrester ◽  
Michael C. Schneider ◽  
M. Marta Sarquis ◽  
...  
Keyword(s):  
Mitochondrial Complex ◽  
Complex Ii

Mitochondrial Complex II Generates Superoxide in the Forward and Reverse Directions

2011 ◽  
Vol 51 ◽  
pp. S139
Author(s):  
Casey L Quinlan ◽  
Adam Orr ◽  
Jason R Treberg ◽  
Irina Perevoshchikova ◽  
Martin D Brand
Keyword(s):  
Mitochondrial Complex ◽  
Complex Ii
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