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Page 1
Gene of the month: SDH.
Aldera AP, Govender D. Aldera AP, et al. J Clin Pathol. 2018 Feb;71(2):95-97. doi: 10.1136/jclinpath-2017-204677. Epub 2017 Oct 25. J Clin Pathol. 2018. PMID: 29070651 Review.
Succinate dehydrogenase (SDH) is a heterotetrameric nuclear encoded mitochondrial protein complex which plays a role in the citric acid cycle and the electron transfer chain. Germline mutations in SDHA are associated with Leigh syndrome. Mutations in S …
Succinate dehydrogenase (SDH) is a heterotetrameric nuclear encoded mitochondrial protein complex which plays a role in the ci …
Isolated mitochondrial complex I deficiency: explorative data analysis of patient cell parameters.
Blanchet L, Buydens MC, Smeitink JA, Willems PH, Koopman WJ. Blanchet L, et al. Curr Pharm Des. 2011 Dec 1;17(36):4023-33. doi: 10.2174/138161211798764870. Curr Pharm Des. 2011. PMID: 22188452 Review.
Isolated deficiency of mitochondrial complex I (CI), the first complex of the oxidative phosphorylation (OXPHOS) system, can arise from mutations in nuclear DNA (nDNA)-encoded subunits. ...Our results highlight a connection between CI deficiency
Isolated deficiency of mitochondrial complex I (CI), the first complex of the oxidative phosphorylation (OXPHOS) …
Complex II deficiency--a case report and review of the literature.
Jain-Ghai S, Cameron JM, Al Maawali A, Blaser S, MacKay N, Robinson B, Raiman J. Jain-Ghai S, et al. Am J Med Genet A. 2013 Feb;161A(2):285-94. doi: 10.1002/ajmg.a.35714. Epub 2013 Jan 15. Am J Med Genet A. 2013. PMID: 23322652 Review.
Complex II deficiency is a rare cause of mitochondrial respiratory chain defects with a prevalence of 2-23%. ...Neurological involvement is most commonly observed and brain imaging commonly shows leukoencephalopathy, Leigh syndrome, or ce
Complex II deficiency is a rare cause of mitochondrial respiratory chain defects with a prevalence of 2-23%. ...
Neuropathology of mitochondrial diseases.
Filosto M, Tomelleri G, Tonin P, Scarpelli M, Vattemi G, Rizzuto N, Padovani A, Simonati A. Filosto M, et al. Biosci Rep. 2007 Jun;27(1-3):23-30. doi: 10.1007/s10540-007-9034-3. Biosci Rep. 2007. PMID: 17541738 Review.
The term "mitochondrial diseases" (MD) refers to a group of disorders related to respiratory chain dysfunction. ...Grey matter lesions are prevalent in MERRF, MELAS, Alpers and Leigh syndromes. White matter involvement is always seen in Kearns-Sayre syndrome
The term "mitochondrial diseases" (MD) refers to a group of disorders related to respiratory chain dysfunction. ...Grey matter lesion …
Novel variant p.(Ala102Thr) in SDHB causes mitochondrial complex II deficiency: Case report and review of the literature.
Kaur P, Sharma S, Kadavigere R, Girisha KM, Shukla A. Kaur P, et al. Ann Hum Genet. 2020 Jul;84(4):345-351. doi: 10.1111/ahg.12377. Epub 2020 Mar 2. Ann Hum Genet. 2020. PMID: 32124427 Review.
Leigh syndrome due to complex II deficiency constitutes 2% to 7% of these cases. Previously, nine individuals with Leigh syndrome have been reported with pathogenic variants in SDHB, which encodes for the iron-sulfur cluster subuni
Leigh syndrome due to complex II deficiency constitutes 2% to 7% of these cases. Previously, nine individ
[Leigh's syndrome and mitochondrial myopathy].
Nakase H. Nakase H. Nihon Rinsho. 1993 Sep;51(9):2403-8. Nihon Rinsho. 1993. PMID: 8411720 Review. Japanese.
This syndrome is due to the disturbance of aerobic metabolism. Pyruvate dehydrogenase deficiency and cytochrome c oxidase deficiency are common metabolic disturbances in this syndrome. Complex I or II deficiency has also been claim …
This syndrome is due to the disturbance of aerobic metabolism. Pyruvate dehydrogenase deficiency and cytochrome c oxidase d
Cytochrome c oxidase deficiency.
DiMauro S, Lombes A, Nakase H, Mita S, Fabrizi GM, Tritschler HJ, Bonilla E, Miranda AF, DeVivo DC, Schon EA. DiMauro S, et al. Pediatr Res. 1990 Nov;28(5):536-41. doi: 10.1203/00006450-199011000-00025. Pediatr Res. 1990. PMID: 2175026 Review.
Cytochrome c oxidase (COX) is a complex enzyme composed of 13 subunits, three of which are encoded by the mitochondrial DNA (mtDNA). ...Immunologically detectable protein may be normal (benign myopathy) or variably decreased (fatal myopathy, Leigh syndrome
Cytochrome c oxidase (COX) is a complex enzyme composed of 13 subunits, three of which are encoded by the mitochondrial DNA (m …
Nuclear gene defects in mitochondrial disorders.
Zeviani M, Corona P, Nijtmans L, Tiranti V. Zeviani M, et al. Ital J Neurol Sci. 1999 Dec;20(6):401-8. doi: 10.1007/s100720050059. Ital J Neurol Sci. 1999. PMID: 10937860 Review.
An increasing number of nuclear genes have been associated with abnormalities of oxidative phosphorylation and mitochondrial disorders. The protein products of these genes can be grouped into three categories: structural components of the respiratory chain, factors influen …
An increasing number of nuclear genes have been associated with abnormalities of oxidative phosphorylation and mitochondrial disorder …
Mitochondrial cytopathies and neuromuscular disorders.
Van Coster R, De Meirleir L. Van Coster R, et al. Acta Neurol Belg. 2000 Sep;100(3):156-61. Acta Neurol Belg. 2000. PMID: 11098288 Review.
Deficiencies of complex II are extremely rare. Different phenotypes are associated with complex IV deficiency, including a neonatal form, cardio-encephalomyopathy in young infants, Leigh syndrome, and pure myopathy. ...In some disorders, …
Deficiencies of complex II are extremely rare. Different phenotypes are associated with complex IV deficiency, i …
[The molecular background of Leigh syndrome].
Piekutowska-Abramczuk D. Piekutowska-Abramczuk D. Neurol Neurochir Pol. 2008 May-Jun;42(3):238-50. Neurol Neurochir Pol. 2008. PMID: 18651330 Review. Polish.
It may result from several defects of mitochondrial enzyme complexes, including pyruvate dehydrogenase complex, and respiratory chain complexes I, II, III, IV, V. ...Affected patients usually die before 5 years of life due to central ventilation failure. L
It may result from several defects of mitochondrial enzyme complexes, including pyruvate dehydrogenase complex, and respirator …