Cytochrome c oxidase biogenesis in a patient with a mutation in COX10 gene
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Cytochrome c oxidase biogenesis in a patient with a mutation in COX10 gene. / Coenen, Marieke J H; van den Heuvel, Lambert P; Ugalde, Cristina; Ten Brinke, Marike; Nijtmans, Leo G J; Trijbels, Frans J M; Beblo, Skadi; Maier, Esther M; Muntau, Ania C; Smeitink, Jan A M.
in: ANN NEUROL, Jahrgang 56, Nr. 4, 10.2004, S. 560-4.Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung
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TY - JOUR
T1 - Cytochrome c oxidase biogenesis in a patient with a mutation in COX10 gene
AU - Coenen, Marieke J H
AU - van den Heuvel, Lambert P
AU - Ugalde, Cristina
AU - Ten Brinke, Marike
AU - Nijtmans, Leo G J
AU - Trijbels, Frans J M
AU - Beblo, Skadi
AU - Maier, Esther M
AU - Muntau, Ania C
AU - Smeitink, Jan A M
PY - 2004/10
Y1 - 2004/10
N2 - We report a cytochrome c oxidase (COX)-deficient patient, clinically affected with Leigh-like disease, with a homozygous mutation in the COX10 start codon. Two-dimensional gel electrophoresis showed a decrease of fully assembled COX without the accumulation of partially assembled COX subcomplexes. Western blot analysis with antibodies directed to COX subunits I, II, and IV showed a decrease of these subunits in this patient compared with control. Overexpression of the COX10 protein in the patient's fibroblasts proved that the detected mutation was indeed the disease cause.
AB - We report a cytochrome c oxidase (COX)-deficient patient, clinically affected with Leigh-like disease, with a homozygous mutation in the COX10 start codon. Two-dimensional gel electrophoresis showed a decrease of fully assembled COX without the accumulation of partially assembled COX subcomplexes. Western blot analysis with antibodies directed to COX subunits I, II, and IV showed a decrease of these subunits in this patient compared with control. Overexpression of the COX10 protein in the patient's fibroblasts proved that the detected mutation was indeed the disease cause.
KW - Alkyl and Aryl Transferases/genetics
KW - Blotting, Western/methods
KW - Cells, Cultured
KW - Child, Preschool
KW - DNA Mutational Analysis/methods
KW - Electron Transport Complex IV/genetics
KW - Electrophoresis, Gel, Two-Dimensional/methods
KW - Female
KW - Fibroblasts/metabolism
KW - Humans
KW - Infant
KW - Leigh Disease/enzymology
KW - Male
KW - Membrane Proteins/genetics
KW - Mitochondria/metabolism
KW - Mutation/genetics
U2 - 10.1002/ana.20229
DO - 10.1002/ana.20229
M3 - SCORING: Journal article
C2 - 15455402
VL - 56
SP - 560
EP - 564
JO - ANN NEUROL
JF - ANN NEUROL
SN - 0364-5134
IS - 4
ER -