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Quoted phrase not found in phrase index: "Mitochondrial complex 4 deficiency, nuclear type 4"
Page 1
Mitochondrial Telomerase Reverse Transcriptase Protects From Myocardial Ischemia/Reperfusion Injury by Improving Complex I Composition and Function.
Ale-Agha N, Jakobs P, Goy C, Zurek M, Rosen J, Dyballa-Rukes N, Metzger S, Greulich J, von Ameln F, Eckermann O, Unfried K, Brack F, Grandoch M, Thielmann M, Kamler M, Gedik N, Kleinbongard P, Heinen A, Heusch G, Gödecke A, Altschmied J, Haendeler J. Ale-Agha N, et al. Circulation. 2021 Dec 7;144(23):1876-1890. doi: 10.1161/CIRCULATIONAHA.120.051923. Epub 2021 Oct 21. Circulation. 2021. PMID: 34672678 Free article.
METHODS: We generated new mouse models containing TERT exclusively in the mitochondria (mitoTERT mice) or the nucleus (nucTERT mice) to finally distinguish between the functions of nuclear and mitochondrial TERT. ...Mitochondrial TERT improves compl …
METHODS: We generated new mouse models containing TERT exclusively in the mitochondria (mitoTERT mice) or the nucleus (nucTERT mice) …
NFE2L1-mediated proteasome function protects from ferroptosis.
Kotschi S, Jung A, Willemsen N, Ofoghi A, Proneth B, Conrad M, Bartelt A. Kotschi S, et al. Mol Metab. 2022 Mar;57:101436. doi: 10.1016/j.molmet.2022.101436. Epub 2022 Jan 6. Mol Metab. 2022. PMID: 34999280 Free PMC article.
In cellular systems, loss of NFE2L1 reduced cellular viability after the induction of both chemically and genetically induced ferroptosis, which was linked to the regulation of proteasomal activity under these conditions. Importantly, this was reproduced in a Sedaghatian-type …
In cellular systems, loss of NFE2L1 reduced cellular viability after the induction of both chemically and genetically induced ferroptosis, w …
Personalized Medicine in Mitochondrial Health and Disease: Molecular Basis of Therapeutic Approaches Based on Nutritional Supplements and Their Analogs.
Tragni V, Primiano G, Tummolo A, Cafferati Beltrame L, La Piana G, Sgobba MN, Cavalluzzi MM, Paterno G, Gorgoglione R, Volpicella M, Guerra L, Marzulli D, Servidei S, De Grassi A, Petrosillo G, Lentini G, Pierri CL. Tragni V, et al. Molecules. 2022 May 29;27(11):3494. doi: 10.3390/molecules27113494. Molecules. 2022. PMID: 35684429 Free PMC article. Review.
Mitochondrial diseases (MDs) may result from mutations affecting nuclear or mitochondrial genes, encoding mitochondrial proteins, or non-protein-coding mitochondrial RNA. Despite the great variability of affected genes, in the most severe cases, …
Mitochondrial diseases (MDs) may result from mutations affecting nuclear or mitochondrial genes, encoding mitochondr …
Detecting respiratory chain defects in osteoblasts from osteoarthritic patients using imaging mass cytometry.
Hipps D, Dobson PF, Warren C, McDonald D, Fuller A, Filby A, Bulmer D, Laude A, Russell O, Deehan DJ, Turnbull DM, Lawless C. Hipps D, et al. Bone. 2022 May;158:116371. doi: 10.1016/j.bone.2022.116371. Epub 2022 Feb 19. Bone. 2022. PMID: 35192969 Free article.
Mitochondria contain their own genome which encodes 13 essential mitochondrial proteins and accumulates somatic variants at up to 10 times the rate of the nuclear genome. Once the concentration of any pathogenic mitochondrial genome variant exceeds a t …
Mitochondria contain their own genome which encodes 13 essential mitochondrial proteins and accumulates somatic variants at up …
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. ...Complementation with the wild-type c …
Isolated cytochrome c oxidase (COX) deficiency is a prevalent cause of mitochondrial disease and is mostly caused by nuclea …
An RMND1 Mutation causes encephalopathy associated with multiple oxidative phosphorylation complex deficiencies and a mitochondrial translation defect.
Janer A, Antonicka H, Lalonde E, Nishimura T, Sasarman F, Brown GK, Brown RM, Majewski J, Shoubridge EA. Janer A, et al. Am J Hum Genet. 2012 Oct 5;91(4):737-43. doi: 10.1016/j.ajhg.2012.08.020. Epub 2012 Sep 27. Am J Hum Genet. 2012. PMID: 23022098 Free PMC article.
Blue native polyacrylamide gel electrophoretic (BN-PAGE) analysis showed assembly defects in all of the OXPHOS complexes with mtDNA-encoded structural subunits, and these defects were associated with a severe deficiency in mitochondrial translation. ...Our re …
Blue native polyacrylamide gel electrophoretic (BN-PAGE) analysis showed assembly defects in all of the OXPHOS complexes with mtDNA-e …
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. Szklarczyk R, et al. Hum Mol Genet. 2013 Feb 15;22(4):656-67. doi: 10.1093/hmg/dds473. Epub 2012 Nov 2. Hum Mol Genet. 2013. PMID: 23125284
The mitochondrial respiratory chain complex IV (cytochrome c oxidase) is a multi-subunit enzyme that transfers electrons from cytochrome c to molecular oxygen, yielding water. ...These results establish the function of the human gene FAM36A/COX20 in complex I …
The mitochondrial respiratory chain complex IV (cytochrome c oxidase) is a multi-subunit enzyme that transfers electrons from …
Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy.
Smits P, Saada A, Wortmann SB, Heister AJ, Brink M, Pfundt R, Miller C, Haas D, Hantschmann R, Rodenburg RJ, Smeitink JA, van den Heuvel LP. Smits P, et al. Eur J Hum Genet. 2011 Apr;19(4):394-9. doi: 10.1038/ejhg.2010.214. Epub 2010 Dec 29. Eur J Hum Genet. 2011. PMID: 21189481 Free PMC article.
The oxidative phosphorylation (OXPHOS) system is under control of both the mitochondrial and the nuclear genomes; 13 subunits are synthesized by the mitochondrial translation machinery. We report a patient with Cornelia de Lange-like dysmorphic features, brai …
The oxidative phosphorylation (OXPHOS) system is under control of both the mitochondrial and the nuclear genomes; 13 subunits …