Research ExplorerPublicationsCytochrome c oxidase biogenesis in a patient with a mutation...

Cytochrome c oxidase biogenesis in a patient with a mutation in COX10 gene

Standard

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, Vol. 56, No. 4, 10.2004, p. 560-4.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Coenen, MJH, van den Heuvel, LP, Ugalde, C, Ten Brinke, M, Nijtmans, LGJ, Trijbels, FJM, Beblo, S, Maier, EM, Muntau, AC & Smeitink, JAM 2004, 'Cytochrome c oxidase biogenesis in a patient with a mutation in COX10 gene', ANN NEUROL, vol. 56, no. 4, pp. 560-4. https://doi.org/10.1002/ana.20229

APA

Coenen, M. J. H., van den Heuvel, L. P., Ugalde, C., Ten Brinke, M., Nijtmans, L. G. J., Trijbels, F. J. M., Beblo, S., Maier, E. M., Muntau, A. C., & Smeitink, J. A. M. (2004). Cytochrome c oxidase biogenesis in a patient with a mutation in COX10 gene. ANN NEUROL, 56(4), 560-4. https://doi.org/10.1002/ana.20229

Vancouver

Coenen MJH, van den Heuvel LP, Ugalde C, Ten Brinke M, Nijtmans LGJ, Trijbels FJM et al. Cytochrome c oxidase biogenesis in a patient with a mutation in COX10 gene. ANN NEUROL. 2004 Oct;56(4):560-4. https://doi.org/10.1002/ana.20229

Bibtex

@article{5b639131a7a0459586e18359f1152aa3,
title = "Cytochrome c oxidase biogenesis in a patient with a mutation in COX10 gene",
abstract = "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.",
keywords = "Alkyl and Aryl Transferases/genetics, Blotting, Western/methods, Cells, Cultured, Child, Preschool, DNA Mutational Analysis/methods, Electron Transport Complex IV/genetics, Electrophoresis, Gel, Two-Dimensional/methods, Female, Fibroblasts/metabolism, Humans, Infant, Leigh Disease/enzymology, Male, Membrane Proteins/genetics, Mitochondria/metabolism, Mutation/genetics",
author = "Coenen, {Marieke J H} and {van den Heuvel}, {Lambert P} and Cristina Ugalde and {Ten Brinke}, Marike and Nijtmans, {Leo G J} and Trijbels, {Frans J M} and Skadi Beblo and Maier, {Esther M} and Muntau, {Ania C} and Smeitink, {Jan A M}",
year = "2004",
month = oct,
doi = "10.1002/ana.20229",
language = "English",
volume = "56",
pages = "560--4",
journal = "ANN NEUROL",
issn = "0364-5134",
publisher = "John Wiley and Sons Inc.",
number = "4",

}

RIS

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 -