| A lack of a definite correlation between male sub-fertility and single nucleotide polymorphisms in sperm mitochondrial genes MT-CO3, MT-ATP6 and MT-ATP8. | A lack of a definite correlation between male sub-fertility and single nucleotide polymorphisms in sperm mitochondrial genes MT-CO3, MT-ATP6 and MT-ATP8.
Saleh Jaweesh M, Hammadeh ME, Dahadhah FW, Al Smadi MA, Al Zoubi MS, Alarjah MIA, Amor H., Free PMC Article | 11/5/2022 |
| Whole mitochondrial genome analysis in Chinese patients with keratoconus. | Whole mitochondrial genome analysis in Chinese patients with keratoconus.
Xu L, Yang K, Fan Q, Zhao D, Pang C, Ren S., Free PMC Article | 12/11/2021 |
| HIGD2A is Required for Assembly of the COX3 Module of Human Mitochondrial Complex IV. | HIGD2A is Required for Assembly of the COX3 Module of Human Mitochondrial Complex IV.
Hock DH, Reljic B, Ang CS, Muellner-Wong L, Mountford HS, Compton AG, Ryan MT, Thorburn DR, Stroud DA., Free PMC Article | 05/15/2021 |
| The T9861C Mutation in the mtDNA-Encoded Cytochrome C Oxidase Subunit III Gene Occurs in High Frequency but with Unequal Distribution in the Alzheimer's Disease Brain. | The T9861C Mutation in the mtDNA-Encoded Cytochrome C Oxidase Subunit III Gene Occurs in High Frequency but with Unequal Distribution in the Alzheimer's Disease Brain.
Castora FJ, Conyers BL, Gershon BS, Kerns KA, Campbell R, Simsek-Duran F. | 01/30/2021 |
| There was a significant association of cytochrome c oxidase III 15bp deletion with human male infertility. | Sperm mitochondrial DNA 15bp deletion of cytochrome c oxidase subunit III is significantly associated with human male infertility in Pakistan.
Mughal IA, Irfan A, Hameed A, Jahan S. | 01/14/2017 |
| this is the first study showing to demonstrate that aa72-117 in HBx is the key region for binding with COXIII. | Accurately mapping the location of the binding site for the interaction between hepatitis B virus X protein and cytochrome c oxidase III.
Li D, Ding J, Chen Z, Chen Y, Lin N, Chen F, Wang X., Free PMC Article | 08/22/2015 |
| A novel COIII gene m.9588G>A mutation was found in the mtDNA sperm's in all asthenozoospermic patients and was absent in the normozoospermic and in fertile men. | Identification of a novel m.9588G > a missense mutation in the mitochondrial COIII gene in asthenozoospermic Tunisian infertile men.
Baklouti-Gargouri S, Ghorbel M, Ben Mahmoud A, Mkaouar-Rebai E, Cherif M, Chakroun N, Sellami A, Fakhfakh F, Ammar-Keskes L., Free PMC Article | 07/25/2015 |
| novel heteroplasmic mutation m.9276G>C in the mitochondrial COIII gene, detected in mtDNA extracted from leukocytes of a mother and her two daughters indicating that this mutation is maternally transmitted | A novel mutation MT-COIII m.9267G>C and MT-COI m.5913G>A mutation in mitochondrial genes in a Tunisian family with maternally inherited diabetes and deafness (MIDD) associated with severe nephropathy.
Tabebi M, Mkaouar-Rebai E, Mnif M, Kallabi F, Ben Mahmoud A, Ben Saad W, Charfi N, Keskes-Ammar L, Kamoun H, Abid M, Fakhfakh F. | 06/27/2015 |
| Lack of Cox3 limits the biosynthesis of COX but does not alter the structure of the enzyme. | Alteration of structure and function of ATP synthase and cytochrome c oxidase by lack of Fo-a and Cox3 subunits caused by mitochondrial DNA 9205delTA mutation.
Hejzlarová K, Kaplanová V, Nůsková H, Kovářová N, Ješina P, Drahota Z, Mráček T, Seneca S, Houštěk J. | 05/2/2015 |
| A novel heteroplasmic missense mitochondrial mutation (m.9387 G>A) in COXIII gene found in 3 asthenospermic patients from Tunisia. | Mitochondrial DNA mutations and polymorphisms in asthenospermic infertile men.
Baklouti-Gargouri S, Ghorbel M, Ben Mahmoud A, Mkaouar-Rebai E, Cherif M, Chakroun N, Sellami A, Fakhfakh F, Ammar-Keskes L. | 03/1/2014 |
| A novel COX III subunit single base pair deletion is associated with a high number (45%) of COX-negative muscle fibers in a patient with severe rhabdomyolysis but no family history of neuromuscular disorder. | Novel single base pair COX III subunit deletion of mitochondrial DNA associated with rhabdomyolysis.
Marotta R, Chin J, Kirby DM, Chiotis M, Cook M, Collins SJ. | 12/10/2011 |
| a novel heteroplasmic missense mitochondrial mutation at nucleotide 9478 in COX3 gene in patients with Leigh syndrome | Molecular-clinical correlation in a family with a novel heteroplasmic Leigh syndrome missense mutation in the mitochondrial cytochrome c oxidase III gene.
Mkaouar-Rebai E, Ellouze E, Chamkha I, Kammoun F, Triki C, Fakhfakh F. | 07/2/2011 |
| The total mtDNA major arc deletion level was greater than the common deletion level in COX 3-deficient spiral ganglion cells. | Major arc mitochondrial DNA deletions in cytochrome c oxidase-deficient human cochlear spiral ganglion cells.
Markaryan A, Nelson EG, Hinojosa R. | 04/2/2011 |
| a MELAS syndrome Korean family harbor homoplasmic missense mutation in mitochondrial genom, which confers pathogenicity (Phe251Leu) | A MELAS syndrome family harboring two mutations in mitochondrial genome.
Choi BO, Hwang JH, Kim J, Cho EM, Cho SY, Hwang SJ, Lee HW, Kim SJ, Chung KW., Free PMC Article | 01/21/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (3) articlesMtSNPscore: a combined evidence approach for assessing cumulative impact of mitochondrial variations in disease.
Bhardwaj A, Mukerji M, Sharma S, Paul J, Gokhale CS, Srivastava AK, Tiwari S. Comprehensive analysis of common mitochondrial DNA variants and colorectal cancer risk.
Webb E, Broderick P, Chandler I, Lubbe S, Penegar S, Tomlinson IP, Houlston RS. Mitochondrial DNA mutations with Leber's hereditary optic neuropathy in Japanese patients with open-angle glaucoma.
Inagaki Y, Mashima Y, Fuse N, Ohtake Y, Fujimaki T, Fukuchi T, Glaucoma Gene Research Group. | 03/13/2008 |
| Data show that both normal and mutant alpha-synuclein specifically interact with the mitochondrial complex IV enzyme, cytochrome C oxidase (COX). | Mutant and wild-type alpha-synuclein interact with mitochondrial cytochrome C oxidase.
Elkon H, Don J, Melamed E, Ziv I, Shirvan A, Offen D. | 01/21/2010 |
| A mitochondrial DNA microdeletion removes the termination codon for MTATP6 and sets MTCO3 immediately in frame. | Investigation of a pathogenic mtDNA microdeletion reveals a translation-dependent deadenylation decay pathway in human mitochondria.
Temperley RJ, Seneca SH, Tonska K, Bartnik E, Bindoff LA, Lightowlers RN, Chrzanowska-Lightowlers ZM. | 01/21/2010 |
| Mutations in mtDNA-encoded cytochrome c oxidase subunit III genes causing isolated myopathy or severe encephalomyopathy. | Mutations in mtDNA-encoded cytochrome c oxidase subunit genes causing isolated myopathy or severe encephalomyopathy.
Horváth R, Schoser BG, Müller-Höcker J, Völpel M, Jaksch M, Lochmüller H. | 01/21/2010 |