scholarly journals Novel Homozygous Missense Mutation in SPG20 Gene Results in Troyer Syndrome Associated with Mitochondrial Cytochrome c Oxidase Deficiency

2016 ◽  
pp. 55-60 ◽  
Author(s):  
Ronen Spiegel ◽  
Devorah Soiferman ◽  
Avraham Shaag ◽  
Stavit Shalev ◽  
Orly Elpeleg ◽  
...  
Keyword(s):  
Cytochrome C ◽  
Missense Mutation ◽  
Cytochrome C Oxidase ◽  
Mitochondrial Cytochrome ◽  
Oxidase Deficiency ◽  
Homozygous Missense Mutation ◽  
Cytochrome C Oxidase Deficiency ◽  
Mitochondrial Cytochrome C

Characterization of Human SCO1 and COX17 Genes in Mitochondrial Cytochrome-c-Oxidase Deficiency

2000 ◽  
Vol 276 (2) ◽  
pp. 530-533 ◽  
Author(s):  
Rita Horvath ◽  
Hanns Lochmüller ◽  
Rolf Stucka ◽  
Jianbo Yao ◽  
Eric A. Shoubridge ◽  
...  
Keyword(s):  
Cytochrome C ◽  
Cytochrome C Oxidase ◽  
Mitochondrial Cytochrome ◽  
Oxidase Deficiency ◽  
Cytochrome C Oxidase Deficiency ◽  
Mitochondrial Cytochrome C

scholarly journals Alterations of sirtuins in mitochondrial cytochrome c-oxidase deficiency

PLoS ONE ◽  
2017 ◽  
Vol 12 (10) ◽  
pp. e0186517 ◽  
Author(s):  
Arne Björn Potthast ◽  
Theresa Heuer ◽  
Simone Johanna Warneke ◽  
Anibh Martin Das
Keyword(s):  
Cytochrome C ◽  
Cytochrome C Oxidase ◽  
Mitochondrial Cytochrome ◽  
Oxidase Deficiency ◽  
Cytochrome C Oxidase Deficiency ◽  
Mitochondrial Cytochrome C

scholarly journals Mitochondrial cytochrome c oxidase deficiency

2016 ◽  
Vol 130 (6) ◽  
pp. 393-407 ◽  
Author(s):  
Malgorzata Rak ◽  
Paule Bénit ◽  
Dominique Chrétien ◽  
Juliette Bouchereau ◽  
Manuel Schiff ◽  
...  
Keyword(s):  
Cytochrome C ◽  
Cytochrome Oxidase ◽  
Cytochrome C Oxidase ◽  
Molecular Basis ◽  
Mitochondrial Cytochrome ◽  
Oxidase Deficiency ◽  
Efficient Treatment ◽  
Cytochrome C Oxidase Deficiency ◽  
Major Progress ◽  
Made In

Cytochrome oxidase defects are multiform diseases and despite major progress made in elucidating their molecular basis, we are still waiting for an efficient treatment. We discuss the cause of this discrepancy stressing the foremost questions that remain to be solved.

scholarly journals A genome-wide copper-sensitized screen identifies novel regulators of mitochondrial cytochrome c oxidase activity

2021 ◽  
Vol 296 ◽  
pp. 100485
Author(s):  
Natalie M. Garza ◽  
Aaron T. Griffin ◽  
Mohammad Zulkifli ◽  
Chenxi Qiu ◽  
Craig D. Kaplan ◽  
...  
Keyword(s):  
Cytochrome C ◽  
Cytochrome C Oxidase ◽  
Oxidase Activity ◽  
Mitochondrial Cytochrome ◽  
Genome Wide ◽  
A Genome ◽  
Mitochondrial Cytochrome C

Uranium inhibits mammalian mitochondrial cytochrome c oxidase and ATP synthase

2021 ◽  
Vol 271 ◽  
pp. 116377
Author(s):  
Libing Yu ◽  
Wenjing Li ◽  
Jian Chu ◽  
Chun Chen ◽  
Xijian Li ◽  
...  
Keyword(s):  
Cytochrome C ◽  
Cytochrome C Oxidase ◽  
Atp Synthase ◽  
Mitochondrial Cytochrome ◽  
Mitochondrial Cytochrome C
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