232 related articles for article (PubMed ID: 25339201)
1. Mutations in COA6 cause cytochrome c oxidase deficiency and neonatal hypertrophic cardiomyopathy.
Baertling F; A M van den Brand M; Hertecant JL; Al-Shamsi A; P van den Heuvel L; Distelmaier F; Mayatepek E; Smeitink JA; Nijtmans LG; Rodenburg RJ
Hum Mutat; 2015 Jan; 36(1):34-8. PubMed ID: 25339201
[TBL] [Abstract][Full Text] [Related]
2. Cooperation between COA6 and SCO2 in COX2 maturation during cytochrome c oxidase assembly links two mitochondrial cardiomyopathies.
Pacheu-Grau D; Bareth B; Dudek J; Juris L; Vögtle FN; Wissel M; Leary SC; Dennerlein S; Rehling P; Deckers M
Cell Metab; 2015 Jun; 21(6):823-33. PubMed ID: 25959673
[TBL] [Abstract][Full Text] [Related]
3. COA6 is a mitochondrial complex IV assembly factor critical for biogenesis of mtDNA-encoded COX2.
Stroud DA; Maher MJ; Lindau C; Vögtle FN; Frazier AE; Surgenor E; Mountford H; Singh AP; Bonas M; Oeljeklaus S; Warscheid B; Meisinger C; Thorburn DR; Ryan MT
Hum Mol Genet; 2015 Oct; 24(19):5404-15. PubMed ID: 26160915
[TBL] [Abstract][Full Text] [Related]
4. Copper supplementation restores cytochrome c oxidase assembly defect in a mitochondrial disease model of COA6 deficiency.
Ghosh A; Trivedi PP; Timbalia SA; Griffin AT; Rahn JJ; Chan SS; Gohil VM
Hum Mol Genet; 2014 Jul; 23(13):3596-606. PubMed ID: 24549041
[TBL] [Abstract][Full Text] [Related]
5. Mitochondrial disease genes COA6, COX6B and SCO2 have overlapping roles in COX2 biogenesis.
Ghosh A; Pratt AT; Soma S; Theriault SG; Griffin AT; Trivedi PP; Gohil VM
Hum Mol Genet; 2016 Feb; 25(4):660-71. PubMed ID: 26669719
[TBL] [Abstract][Full Text] [Related]
6. The Role of COA6 in the Mitochondrial Copper Delivery Pathway to Cytochrome
Swaminathan AB; Gohil VM
Biomolecules; 2022 Jan; 12(1):. PubMed ID: 35053273
[TBL] [Abstract][Full Text] [Related]
7. COA6 Facilitates Cytochrome c Oxidase Biogenesis as Thiol-reductase for Copper Metallochaperones in Mitochondria.
Pacheu-Grau D; Wasilewski M; Oeljeklaus S; Gibhardt CS; Aich A; Chudenkova M; Dennerlein S; Deckers M; Bogeski I; Warscheid B; Chacinska A; Rehling P
J Mol Biol; 2020 Mar; 432(7):2067-2079. PubMed ID: 32061935
[TBL] [Abstract][Full Text] [Related]
8. A novel variant in the COX15 gene causing a fatal infantile cardioencephalomyopathy: A case report with clinical and molecular review.
Galvão de Oliveira M; Tengan C; Micheletti C; Ramos de Macedo P; Soares Pinho Cernach MC; Cavole TR; de França Basto M; Filho JS; Virmond LA; Milanezi F; Nakano V; Falconi A; Perrone E
Eur J Med Genet; 2021 May; 64(5):104195. PubMed ID: 33746038
[TBL] [Abstract][Full Text] [Related]
9. What Role Does COA6 Play in Cytochrome
Maghool S; Ryan MT; Maher MJ
Int J Mol Sci; 2020 Sep; 21(19):. PubMed ID: 32977416
[TBL] [Abstract][Full Text] [Related]
10. A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia.
Szklarczyk R; Wanschers BF; Nijtmans LG; Rodenburg RJ; Zschocke J; Dikow N; van den Brand MA; Hendriks-Franssen MG; Gilissen C; Veltman JA; Nooteboom M; Koopman WJ; Willems PH; Smeitink JA; Huynen MA; van den Heuvel LP
Hum Mol Genet; 2013 Feb; 22(4):656-67. PubMed ID: 23125284
[TBL] [Abstract][Full Text] [Related]
11. COA6 Is Structurally Tuned to Function as a Thiol-Disulfide Oxidoreductase in Copper Delivery to Mitochondrial Cytochrome c Oxidase.
Soma S; Morgada MN; Naik MT; Boulet A; Roesler AA; Dziuba N; Ghosh A; Yu Q; Lindahl PA; Ames JB; Leary SC; Vila AJ; Gohil VM
Cell Rep; 2019 Dec; 29(12):4114-4126.e5. PubMed ID: 31851937
[TBL] [Abstract][Full Text] [Related]
12. Mutation in mitochondrial complex IV subunit COX5A causes pulmonary arterial hypertension, lactic acidemia, and failure to thrive.
Baertling F; Al-Murshedi F; Sánchez-Caballero L; Al-Senaidi K; Joshi NP; Venselaar H; van den Brand MA; Nijtmans LG; Rodenburg RJ
Hum Mutat; 2017 Jun; 38(6):692-703. PubMed ID: 28247525
[TBL] [Abstract][Full Text] [Related]
13. Human mitochondrial cytochrome
Bourens M; Barrientos A
J Biol Chem; 2017 May; 292(19):7774-7783. PubMed ID: 28330871
[TBL] [Abstract][Full Text] [Related]
14. Sequence analysis of the structural nuclear encoded subunits and assembly genes of cytochrome c oxidase in a cohort of 10 isolated complex IV-deficient patients revealed five mutations.
Coenen MJ; Smeitink JA; Pots JM; van Kaauwen E; Trijbels FJ; Hol FA; van den Heuvel LP
J Child Neurol; 2006 Jun; 21(6):508-11. PubMed ID: 16948936
[TBL] [Abstract][Full Text] [Related]
15. Modeling protein-protein complexes involved in the cytochrome C oxidase copper-delivery pathway.
van Dijk AD; Ciofi-Baffoni S; Banci L; Bertini I; Boelens R; Bonvin AM
J Proteome Res; 2007 Apr; 6(4):1530-9. PubMed ID: 17338559
[TBL] [Abstract][Full Text] [Related]
16. Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency.
Jaksch M; Ogilvie I; Yao J; Kortenhaus G; Bresser HG; Gerbitz KD; Shoubridge EA
Hum Mol Genet; 2000 Mar; 9(5):795-801. PubMed ID: 10749987
[TBL] [Abstract][Full Text] [Related]
17. Structural and functional characterization of the mitochondrial complex IV assembly factor Coa6.
Maghool S; Cooray NDG; Stroud DA; Aragão D; Ryan MT; Maher MJ
Life Sci Alliance; 2019 Oct; 2(5):. PubMed ID: 31515291
[TBL] [Abstract][Full Text] [Related]
18. The effect of small molecules on nuclear-encoded translation diseases.
Soiferman D; Ayalon O; Weissman S; Saada A
Biochimie; 2014 May; 100():184-91. PubMed ID: 24012549
[TBL] [Abstract][Full Text] [Related]
19. A novel variant in COX16 causes cytochrome c oxidase deficiency, severe fatal neonatal lactic acidosis, encephalopathy, cardiomyopathy, and liver dysfunction.
Wintjes LTM; Kava M; van den Brandt FA; van den Brand MAM; Lapina O; Bliksrud YT; Kulseth MA; Amundsen SS; Selberg TR; Ybema-Antoine M; Tutakhel OAZ; Greed L; Thorburn DR; Tangeraas T; Balasubramaniam S; Rodenburg RJT
Hum Mutat; 2021 Feb; 42(2):135-141. PubMed ID: 33169484
[TBL] [Abstract][Full Text] [Related]
20. LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population.
Oláhová M; Hardy SA; Hall J; Yarham JW; Haack TB; Wilson WC; Alston CL; He L; Aznauryan E; Brown RM; Brown GK; Morris AA; Mundy H; Broomfield A; Barbosa IA; Simpson MA; Deshpande C; Moeslinger D; Koch J; Stettner GM; Bonnen PE; Prokisch H; Lightowlers RN; McFarland R; Chrzanowska-Lightowlers ZM; Taylor RW
Brain; 2015 Dec; 138(Pt 12):3503-19. PubMed ID: 26510951
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]