Cytochrome c oxidase deficiency in two patients due to mutations in COX10

被引:0
|
作者
Hansikova, Hana
Stufkova, Hana
Rychtarova, Lucie
Vanisova, Marie
Krizova, Jana
Zeman, Jiri
Honzik, Tomas
Tesarova, Marketa
机构
[1] Charles Univ Prague, Dept Paediat & Inherited Metab Disorders, Fac Med 1, Prague, Czech Republic
[2] Gen Univ Hosp, Prague, Czech Republic
来源
BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS | 2024年 / 1865卷
关键词
D O I
10.1016/j.bbabio.2024.149385
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
T15 P-21
引用
收藏
页码:105 / 105
页数:1
相关论文
共 50 条
  • [1] A mutation in the human heme A:farnesyltransferase gene (COX10) causes cytochrome c oxidase deficiency
    Valnot, I
    von Kleist-Retzow, JC
    Barrientos, A
    Gorbatyuk, M
    Taanman, JW
    Mehaye, B
    Rustin, P
    Tzagoloff, A
    Munnich, A
    Rötig, A
    HUMAN MOLECULAR GENETICS, 2000, 9 (08) : 1245 - 1249
  • [2] Cytochrome c oxidase biogenesis in a patient with a mutation in COX10 gene
    Coenen, MJH
    van den Heuvel, LP
    Ugalde, C
    ten Brinke, M
    Nijtmans, LGJ
    Trijbels, FJM
    Beblo, S
    Maier, EM
    Muntau, AC
    Smeitink, JAM
    ANNALS OF NEUROLOGY, 2004, 56 (04) : 560 - 564
  • [3] Cytochrome c oxidase subassemblies in fibroblast cultures from patients carrying mutations in COX10, SCO1, or SURF1
    Williams, SL
    Valnot, I
    Rustin, P
    Taanman, JW
    JOURNAL OF BIOLOGICAL CHEMISTRY, 2004, 279 (09) : 7462 - 7469
  • [4] Mice lacking COX10 in skeletal muscle recapitulate the phenotype of progressive mitochondrial myopathies associated with cytochrome c oxidase deficiency
    Diaz, F
    Thomas, CK
    Garcia, S
    Hernandez, D
    Moraes, CT
    HUMAN MOLECULAR GENETICS, 2005, 14 (18) : 2737 - 2748
  • [5] CYTOCHROME-C-OXIDASE (COX) DEFICIENCY
    DIMAURO, S
    ZEVIANI, M
    BONILLA, E
    SAKODA, S
    SERVIDEI, S
    MIRANDA, AF
    SHERBANY, A
    PRELLE, A
    SCHON, EA
    MUSCLE & NERVE, 1986, 9 (05) : 79 - 79
  • [6] MYOPATHY AND FATAL CARDIOPATHY DUE TO CYTOCHROME-C-OXIDASE (COX) DEFICIENCY
    ZEVIANI, M
    VANDYKE, DH
    BONILLA, E
    BAUSERMAN, SC
    SERVIDEI, S
    BEAUMONT, EA
    SHARDA, J
    VANDERLAAN, K
    DIMAURO, S
    MUSCLE & NERVE, 1986, 9 (05) : 185 - 185
  • [7] Exclusion of two COX assembly genes in cytochrome c oxidase deficiency: SCO2 and COX10.
    Lebon, S
    Valnot, I
    Rotig, A
    Rustin, P
    Munnich, A
    AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 69 (04) : 634 - 634
  • [8] No mitochondrial cytochrome oxidase (COX) gene mutations in 18 cases of COX deficiency
    Parfait, B
    Percheron, A
    Chretien, D
    Rustin, P
    Munnich, A
    Rotig, A
    HUMAN GENETICS, 1997, 101 (02) : 247 - 250
  • [9] No mitochondrial cytochrome oxidase (COX) gene mutations in 18 cases of COX deficiency
    Béatrice Parfait
    Agnès Percheron
    Dominique Chretien
    Pierre Rustin
    Arnold Munnich
    Agnès Rötig
    Human Genetics, 1997, 101 : 247 - 250
  • [10] Cytochrome c oxidase deficiency due to mutations in SCO2 gene
    Vesela, K
    Hansikova, H
    Tesarova, M
    Martasek, P
    Houstek, J
    Zeman, J
    AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 73 (05) : 574 - 574