Pyruvate dehydrogenase complex deficiency caused by a novel missense point mutation (L213P) in the E1α subunit gene

被引：0
|
作者：
不详
机构：
来源：
MITOCHONDRION | 2005年 / 5卷 / 03期
关键词：
D O I：
暂无
中图分类号：
Q2 [细胞生物学];
学科分类号：
071009 ; 090102 ;
摘要：
引用
收藏
页码：224 / 225
页数：2
相关论文
共 50 条
  • [41] CsPDC-E1α, a novel pyruvate dehydrogenase complex E1α subunit gene from Camellia sinensis, is induced during cadmium inhibiting pollen tube growth
    Pan, Junting
    Li, Dongqin
    Shu, Zaifa
    Jiang, Xin
    Ma, Wenwen
    Wang, Weidong
    Zhu, Jiaojiao
    Wang, Yuhua
    CANADIAN JOURNAL OF PLANT SCIENCE, 2018, 98 (01) : 62 - 70
  • [42] MUTATION OF E1-ALPHA GENE IN A FEMALE-PATIENT WITH PYRUVATE-DEHYDROGENASE DEFICIENCY DUE TO RAPID DEGRADATION OF E1 PROTEIN
    ITO, M
    HUQ, AHMM
    NAITO, E
    SAIJO, T
    TAKEDA, E
    KURODA, Y
    JOURNAL OF INHERITED METABOLIC DISEASE, 1992, 15 (06) : 848 - 856
  • [43] Pyruvate dehydrogenase complex: mRNA and protein expression patterns of E1α subunit genes in human spermatogenesis
    Pinheiro, Ana
    Silva, Maria Joao
    Graca, Ines
    Silva, Joaquina
    Sa, Rosalia
    Sousa, Mario
    Barros, Alberto
    de Almeida, Isabel Tavares
    Rivera, Isabel
    GENE, 2012, 506 (01) : 173 - 178
  • [44] Epitope mapping on E1α subunit of pyruvate dehydrogenase complex with autoantibodies of patients with primary biliary cirrhosis
    Mori, T
    Ono, K
    Hakozaki, M
    Kochi, H
    LIVER INTERNATIONAL, 2003, 23 (05) : 355 - 362
  • [45] Leigh syndrome due to pyruvate dehydrogenase E1 alpha deficiency (point mutation R263G) in a Spanish boy
    Briones, P
    Lopez, MJ
    DeMeirleir, L
    Ribes, A
    Rodes, M
    MartinezCosta, C
    Peris, M
    Lissens, W
    JOURNAL OF INHERITED METABOLIC DISEASE, 1996, 19 (06) : 795 - 796
  • [46] CHARACTERIZATION OF THE PROMOTER REGION OF THE BETA-SUBUNIT OF THE HUMAN PYRUVATE-DEHYDROGENASE (E1) GENE
    NAIK, SS
    MADHUSUDHAN, KT
    PATEL, MS
    FASEB JOURNAL, 1993, 7 (07): : A1220 - A1220
  • [47] MUTATIONS IN THE X-LINKED E(1)ALPHA SUBUNIT OF PYRUVATE-DEHYDROGENASE - EXON SKIPPING, INSERTION OF DUPLICATE SEQUENCE, AND MISSENSE MUTATIONS LEADING TO THE DEFICIENCY OF THE PYRUVATE-DEHYDROGENASE COMPLEX
    CHUN, K
    MACKAY, N
    PETROVABENEDICT, R
    FEDERICO, A
    FOIS, A
    COLE, DEC
    ROBERTSON, E
    ROBINSON, BH
    AMERICAN JOURNAL OF HUMAN GENETICS, 1995, 56 (03) : 558 - 569
  • [48] Structural and functional impact of clinically relevant E1α variants causing pyruvate dehydrogenase complex deficiency
    Pavlu-Pereira, Hana
    Lousa, Diana
    Tome, Catarina S.
    Florindo, Cristina
    Silva, Maria Joao
    de Almeida, Isabel Tavares
    Leandro, Paula
    Rivera, Isabel
    Vicente, Joao B.
    BIOCHIMIE, 2021, 183 : 78 - 88
  • [49] Somatic mosaicism in a male with an exon skipping mutation in the E1α subunit (PDHA1) of the pyruvate dehydrogenase complex results in a mild phenotype.
    Okajima, K
    Nickel, GC
    Sieverding, E
    Warman, ML
    Kerr, DS
    AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 73 (05) : 459 - 459
  • [50] FATAL LACTIC-ACIDOSIS DUE TO DEFICIENCY OF E1 COMPONENT OF THE PYRUVATE-DEHYDROGENASE COMPLEX
    BIRCHMACHIN, MA
    SHEPHERD, IM
    SOLOMON, M
    YEAMAN, SJ
    GARDNERMEDWIN, D
    SHERRATT, HSA
    LINDSAY, JG
    AYNSLEYGREEN, A
    TURNBULL, DM
    JOURNAL OF INHERITED METABOLIC DISEASE, 1988, 11 (02) : 207 - 217
12345