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 Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy

Brain ◽  
2009 ◽  
Vol 132 (11) ◽  
pp. 3165-3174 ◽  
Author(s):  
R. Horvath ◽  
J. P. Kemp ◽  
H. A. L. Tuppen ◽  
G. Hudson ◽  
A. Oldfors ◽  
...  
Keyword(s):  
Cytochrome C ◽  
Cytochrome C Oxidase ◽  
Molecular Basis ◽  
Oxidase Deficiency ◽  
Cytochrome C Oxidase Deficiency

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 Mutations of the SCO1 Gene in Mitochondrial Cytochrome c Oxidase Deficiency with Neonatal-Onset Hepatic Failure and Encephalopathy

2000 ◽  
Vol 67 (5) ◽  
pp. 1104-1109 ◽  
Author(s):  
Isabelle Valnot ◽  
Sandrine Osmond ◽  
Nadine Gigarel ◽  
Blandine Mehaye ◽  
Jeanne Amiel ◽  
...  
Keyword(s):  
Cytochrome C ◽  
Cytochrome C Oxidase ◽  
Hepatic Failure ◽  
Mitochondrial Cytochrome ◽  
Oxidase Deficiency ◽  
Neonatal Onset ◽  
Cytochrome C Oxidase Deficiency ◽  
Mitochondrial Cytochrome C

Studying the molecular basis of the reversibility in infantile reversible cytochrome c oxidase deficiency

2012 ◽  
Vol 22 ◽  
pp. S22
Author(s):  
V. Boczonadi ◽  
P.M. Smith ◽  
K. Sitarz ◽  
Z.M.A. Chrzanowska-Lightowlers ◽  
R.N. Lightowlers ◽  
...  
Keyword(s):  
Cytochrome C ◽  
Cytochrome C Oxidase ◽  
Molecular Basis ◽  
Oxidase Deficiency ◽  
Cytochrome C Oxidase Deficiency

scholarly journals The new molecular p.M177T identified in two unrelated patients with clinical features of SCO2-dependent cytochrome c oxidase deficiency

2010 ◽  
Vol 1797 ◽  
pp. 52
Author(s):  
Sylwia Łuczak ◽  
Dorota Piekutowska-Abramczuk ◽  
Paweł Kowalski ◽  
Elżbieta Ciara ◽  
Dorota Jurkiewicz ◽  
...  
Keyword(s):  
Cytochrome C ◽  
Cytochrome C Oxidase ◽  
Clinical Features ◽  
Oxidase Deficiency ◽  
Cytochrome C Oxidase Deficiency
Sign in / Sign up

Export Citation Format

Share Document