相似文献
1
Severe infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome c oxidase.
Am J Hum Genet. 2008 Jun;82(6):1281-9. doi: 10.1016/j.ajhg.2008.05.002. Epub 2008 May 22.
2
Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease.
J Med Genet. 2011 Oct;48(10):660-668. doi: 10.1136/jmg.2011.089995.
3
Infantile cardioencephalopathy due to a COX15 gene defect: report and review.
Am J Med Genet A. 2011 Apr;155A(4):840-4. doi: 10.1002/ajmg.a.33881. Epub 2011 Mar 15.
4
A missense mutation of cytochrome oxidase subunit II causes defective assembly and myopathy.
Am J Hum Genet. 1999 Oct;65(4):1030-9. doi: 10.1086/302590.
5
Cytochrome c oxidase-deficient patients have distinct subunit assembly profiles.
J Biol Chem. 2001 May 11;276(19):16296-301. doi: 10.1074/jbc.M011162200. Epub 2001 Feb 7.
6
A novel homozygous pathogenic missense variant in COX6B1: Further delineation of the phenotype.
Am J Med Genet A. 2024 Oct;194(10):e63783. doi: 10.1002/ajmg.a.63783. Epub 2024 Jun 6.
7
Isolated cytochrome c oxidase deficiency as a cause of MELAS.
J Med Genet. 2008 Feb;45(2):117-21. doi: 10.1136/jmg.2007.052076.
8
MELAS-like encephalomyopathy caused by a new pathogenic mutation in the mitochondrial DNA encoded cytochrome c oxidase subunit I.
Neuromuscul Disord. 2012 Nov;22(11):990-4. doi: 10.1016/j.nmd.2012.06.003. Epub 2012 Jul 23.
9
High-resolution melting analysis of 15 genes in 60 patients with cytochrome-c oxidase deficiency.
J Hum Genet. 2012 Jul;57(7):442-8. doi: 10.1038/jhg.2012.49. Epub 2012 May 17.
10
Cytochrome c oxidase deficiency.
Int Rev Neurobiol. 2002;53:205-40. doi: 10.1016/s0074-7742(02)53009-9.
引用本文的文献
1
CHCHD4 Oxidoreductase Activity: A Comprehensive Analysis of the Molecular, Functional, and Structural Properties of Its Redox-Regulated Substrates.
Molecules. 2025 May 10;30(10):2117. doi: 10.3390/molecules30102117.
2
Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseases.
Genome Med. 2025 May 22;17(1):58. doi: 10.1186/s13073-025-01467-z.
3
Overview of neuroimaging in primary mitochondrial disorders.
Pediatr Radiol. 2025 Apr;55(4):765-791. doi: 10.1007/s00247-025-06172-y. Epub 2025 Feb 12.
4
Mutations of the Electron Transport Chain Affect Lifespan and ROS Levels in .
Antioxidants (Basel). 2025 Jan 10;14(1):76. doi: 10.3390/antiox14010076.
5
Diffusion imaging genomics provides novel insight into early mechanisms of cerebral small vessel disease.
Mol Psychiatry. 2024 Nov;29(11):3567-3579. doi: 10.1038/s41380-024-02604-7. Epub 2024 May 29.
6
Integrative analysis of metabolism subtypes and identification of prognostic metabolism-related genes for glioblastoma.
Biosci Rep. 2024 Mar 29;44(3). doi: 10.1042/BSR20231400.
7
Gene crosstalk between COVID-19 and preeclampsia revealed by blood transcriptome analysis.
Front Immunol. 2024 Jan 8;14:1243450. doi: 10.3389/fimmu.2023.1243450. eCollection 2023.
8
Mechanisms underlying retardation of aging by dietary energy restriction.
Pathol Int. 2023 Dec;73(12):579-592. doi: 10.1111/pin.13387. Epub 2023 Nov 17.
9
Immunoproteasome-specific subunit PSMB9 induction is required to regulate cellular proteostasis upon mitochondrial dysfunction.
Nat Commun. 2023 Jul 11;14(1):4092. doi: 10.1038/s41467-023-39642-8.
10
Redox proteomics combined with proximity labeling enables monitoring of localized cysteine oxidation in cells.
Cell Chem Biol. 2023 Mar 16;30(3):321-336.e6. doi: 10.1016/j.chembiol.2023.02.006. Epub 2023 Mar 7.
本文引用的文献
1
Early developmental pathology due to cytochrome c oxidase deficiency is revealed by a new zebrafish model.
J Biol Chem. 2007 Nov 30;282(48):34839-49. doi: 10.1074/jbc.M703528200. Epub 2007 Aug 30.
2
Mutations in cytochrome c oxidase subunit VIa cause neurodegeneration and motor dysfunction in Drosophila.
Genetics. 2007 Jun;176(2):937-46. doi: 10.1534/genetics.107.071688. Epub 2007 Apr 15.
3
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.
J Child Neurol. 2006 Jun;21(6):508-11. doi: 10.1177/08830738060210062501.
4
Mitochondrial respiratory chain supercomplexes are destabilized in Barth Syndrome patients.
J Mol Biol. 2006 Aug 18;361(3):462-9. doi: 10.1016/j.jmb.2006.06.057. Epub 2006 Jul 5.
5
Tissue-specific cytochrome c oxidase assembly defects due to mutations in SCO2 and SURF1.
Biochem J. 2005 Dec 15;392(Pt 3):625-32. doi: 10.1042/BJ20050807.
6
Mega2: data-handling for facilitating genetic linkage and association analyses.
Bioinformatics. 2005 May 15;21(10):2556-7. doi: 10.1093/bioinformatics/bti364. Epub 2005 Mar 3.
7
Clinical and molecular findings in children with complex I deficiency.
Biochim Biophys Acta. 2004 Dec 6;1659(2-3):136-47. doi: 10.1016/j.bbabio.2004.09.006.
8
Mitochondrial disorders.
Brain. 2004 Oct;127(Pt 10):2153-72. doi: 10.1093/brain/awh259. Epub 2004 Sep 9.
9
Genetic defects of cytochrome c oxidase assembly.
Physiol Res. 2004;53 Suppl 1:S213-23.
10
Cytochrome c oxidase subassemblies in fibroblast cultures from patients carrying mutations in COX10, SCO1, or SURF1.
J Biol Chem. 2004 Feb 27;279(9):7462-9. doi: 10.1074/jbc.M309232200. Epub 2003 Nov 7.
Zotero 插件