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Quoted phrase not found in phrase index: "Mitochondrial complex 1 deficiency, nuclear type 5"
Page 1
Mitochondrial Ca2+ homeostasis in human NADH:ubiquinone oxidoreductase deficiency.
Willems PH, Valsecchi F, Distelmaier F, Verkaart S, Visch HJ, Smeitink JA, Koopman WJ. Willems PH, et al. Cell Calcium. 2008 Jul;44(1):123-33. doi: 10.1016/j.ceca.2008.01.002. Epub 2008 Mar 4. Cell Calcium. 2008. PMID: 18295330 Review.
NADH:ubiquinone oxidoreductase or complex I is a large multisubunit assembly of the mitochondrial inner membrane that channels high-energy electrons from metabolic NADH into the electron transport chain (ETC). Its dysfunction is associated with a range of progressiv …
NADH:ubiquinone oxidoreductase or complex I is a large multisubunit assembly of the mitochondrial inner membrane that channels …
OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect.
Thompson K, Mai N, Oláhová M, Scialó F, Formosa LE, Stroud DA, Garrett M, Lax NZ, Robertson FM, Jou C, Nascimento A, Ortez C, Jimenez-Mallebrera C, Hardy SA, He L, Brown GK, Marttinen P, McFarland R, Sanz A, Battersby BJ, Bonnen PE, Ryan MT, Chrzanowska-Lightowlers ZM, Lightowlers RN, Taylor RW. Thompson K, et al. EMBO Mol Med. 2018 Nov;10(11):e9060. doi: 10.15252/emmm.201809060. EMBO Mol Med. 2018. PMID: 30201738 Free PMC article.
However, depletion of human OXA1 (OXA1L) was previously reported to impair assembly of complexes I and V only. We report a patient presenting with severe encephalopathy, hypotonia and developmental delay who died at 5 years showing complex IV deficiency in sk …
However, depletion of human OXA1 (OXA1L) was previously reported to impair assembly of complexes I and V only. We report a patient pr …
Mitochondrial complex IV deficiency, caused by mutated COX6B1, is associated with encephalomyopathy, hydrocephalus and cardiomyopathy.
Abdulhag UN, Soiferman D, Schueler-Furman O, Miller C, Shaag A, Elpeleg O, Edvardson S, Saada A. Abdulhag UN, et al. Eur J Hum Genet. 2015 Feb;23(2):159-64. doi: 10.1038/ejhg.2014.85. Epub 2014 Apr 30. Eur J Hum Genet. 2015. PMID: 24781756 Free PMC article.
Isolated cytochrome c oxidase (COX) deficiency is a prevalent cause of mitochondrial disease and is mostly caused by nuclear-encoded mutations in assembly factors while rarely by mutations in structural subunits. We hereby report a case of isolated COX def …
Isolated cytochrome c oxidase (COX) deficiency is a prevalent cause of mitochondrial disease and is mostly caused by nuclea …
Loss of the smallest subunit of cytochrome c oxidase, COX8A, causes Leigh-like syndrome and epilepsy.
Hallmann K, Kudin AP, Zsurka G, Kornblum C, Reimann J, Stüve B, Waltz S, Hattingen E, Thiele H, Nürnberg P, Rüb C, Voos W, Kopatz J, Neumann H, Kunz WS. Hallmann K, et al. Brain. 2016 Feb;139(Pt 2):338-45. doi: 10.1093/brain/awv357. Epub 2015 Dec 17. Brain. 2016. PMID: 26685157
Isolated cytochrome c oxidase (complex IV) deficiency is one of the most frequent respiratory chain defects in humans and is usually caused by mutations in proteins required for assembly of the complex. ...The loss of the wild-type COX8A protein severe …
Isolated cytochrome c oxidase (complex IV) deficiency is one of the most frequent respiratory chain defects in humans and is u …