Cytochrome c oxidase biogenesis in a patient with a mutation in COX10 gene.
Coenen
Marieke J H
MJ
Department of Paediatrics, Nijmegen Centre for Mitochondrial Disorders, University Medical Centre Nijmegen, Nijmegen, The Netherlands.
van den Heuvel
Lambert P
LP
Ugalde
Cristina
C
Ten Brinke
Marike
M
Nijtmans
Leo G J
LG
Trijbels
Frans J M
FJ
Beblo
Skadi
S
Maier
Esther M
EM
Muntau
Ania C
AC
Smeitink
Jan A M
JA
D019883:Alkyl and Aryl Transferases / Q000235:genetics*; D015153:Blotting, Western / Q000379:methods; D002478:Cells, Cultured; D002675:Child, Preschool; D004252:DNA Mutational Analysis / Q000379:methods; D003576:Electron Transport Complex IV / Q000235:genetics / Q000378:metabolism*; D015180:Electrophoresis, Gel, Two-Dimensional / Q000379:methods; D005260:Female; D005347:Fibroblasts / Q000378:metabolism / Q000648:ultrastructure; D006801:Humans; D007223:Infant; D007888:Leigh Disease / Q000201:enzymology / Q000235:genetics*; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008928:Mitochondria / Q000378:metabolism; D009154:Mutation / Q000235:genetics*
D008565:Membrane Proteins; C490115:COX10 protein, human; D003576:Electron Transport Complex IV; D019883:Alkyl and Aryl Transferases