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
[21]   Cytochrome c oxidase deficiency: Patients and animal models [J].
Diaz, Francisca .
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE, 2010, 1802 (01) :100-110
[22]   Structural analysis of tissues affected by cytochrome C oxidase deficiency due to mutations in the SCO2 gene [J].
Vesela, Katerina ;
Hulkova, Helena ;
Hansikova, Hana ;
Zeman, Jiri ;
Elleder, Milan .
APMIS, 2008, 116 (01) :41-49
[23]   Clinical, biochemical and molecular analyses of six patients with isolated cytochrome c oxidase deficiency due to mutations in the SCO2 gene [J].
Vesela, K ;
Hansikova, H ;
Tesarova, M ;
Martasek, P ;
Elleder, M ;
Houstek, J ;
Zeman, J .
ACTA PAEDIATRICA, 2004, 93 (10) :1312-1317
[24]   Pyruvate therapy for Leigh syndrome due to cytochrome c oxidase deficiency [J].
Komaki, Hirofumi ;
Nishigaki, Yutaka ;
Fuku, Noriyuki ;
Hosoya, Hiroko ;
Murayama, Kei ;
Ohtake, Akira ;
Goto, Yu-ichi ;
Wakamoto, Hiroyuki ;
Koga, Yasutoshi ;
Tanaka, Masashi .
BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS, 2010, 1800 (03) :313-315
[25]   A systematic mutation screen of 10 nuclear and 25 mitochondrial candidate genes in 21 patients with cytochrome c oxidase (COX) deficiency shows tRNASer(UCN) mutations in a subgroup with syndromal encephalopathy [J].
Jaksch, M ;
Hofmann, S ;
Kleinle, S ;
Liechti-Gallati, S ;
Pongratz, DE ;
Müller-Höcker, J ;
Jedele, KB ;
Meitinger, T ;
Gerbitz, KD .
JOURNAL OF MEDICAL GENETICS, 1998, 35 (11) :895-900
[26]   MYOPATHY AND FATAL CARDIOPATHY DUE TO CYTOCHROME-C-OXIDASE DEFICIENCY [J].
ZEVIANI, M ;
VANDYKE, DH ;
SERVIDEI, S ;
BAUSERMAN, SC ;
BONILLA, E ;
BEAUMONT, ET ;
SHARDA, J ;
VANDERLAAN, K ;
DIMAURO, S .
ARCHIVES OF NEUROLOGY, 1986, 43 (11) :1198-1202
[27]   Assembly of cytochrome c oxidase: what can we learn from patients with cytochrome c oxidase deficiency? [J].
Taanman, JW ;
Williams, SL .
BIOCHEMICAL SOCIETY TRANSACTIONS, 2001, 29 :446-451
[28]   Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiency [J].
Antonicka, H ;
Leary, SC ;
Agar, JN ;
Horvath, R ;
Kennaway, NG ;
Harding, CO ;
Jaksch, M ;
Shoubridge, EA .
HUMAN MOLECULAR GENETICS, 2003, 12 (20) :2693-2702
[29]   CLINICAL AND MORPHOLOGIC ANALYSES IN 8 CHILDREN WITH CYTOCHROME C OXIDASE DEFICIENCY DUE TO MUTATIONS IN SCO2 GENE [J].
Vesela, K. ;
Hansikova, H. ;
Hulkova, H. ;
Elleder, M. ;
Zeman, J. .
JOURNAL OF INHERITED METABOLIC DISEASE, 2005, 28 :134-134
[30]   Mutation Screening in Patients With Isolated Cytochrome c Oxidase Deficiency [J].
Sabrina Sacconi ;
Leonardo Salviati ;
Carolyn M Sue ;
Sara Shanske ;
Mercy M Davidson ;
Eduardo Bonilla ;
Ali B Naini ;
Darryl C De Vivo ;
Salvatore Dimauro .
Pediatric Research, 2003, 53 :224-230