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
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
  • [21] Tissue-specific pyruvate dehydrogenase deficiency in a boy with novel mutations in the E1 β subunit
    Mayr, J. A.
    Koch, J.
    Rauscher, C.
    Bernert, G.
    Sperl, W.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2008, 31 : 54 - 54
  • [22] Snapshots of Catalysis in the E1 Subunit of the Pyruvate Dehydrogenase Multienzyme Complex
    Pei, Xue Yuan
    Titman, Christopher M.
    Frank, Rene A. W.
    Leeper, Finian J.
    Luisi, Ben F.
    STRUCTURE, 2008, 16 (12) : 1860 - 1872
  • [23] PYRUVATE-DEHYDROGENASE COMPLEX DEFICIENCY DUE TO A POINT MUTATION (P188L) WITHIN THE THIAMINE PYROPHOSPHATE BINDING LOOP OF THE E(1)ALPHA SUBUNIT
    HEMALATHA, SG
    KERR, DS
    WEXLER, ID
    LUSK, MM
    KAUNG, M
    DU, YF
    KOLLI, M
    SCHELPER, RL
    PATEL, MS
    HUMAN MOLECULAR GENETICS, 1995, 4 (02) : 315 - 318
  • [24] SPLICING MUTATIONS IN THE PYRUVATE DEHYDROGENASE E1 ALPHA SUBUNIT GENE
    Ridout, C.
    Brown, R.
    Head, R.
    Brown, G.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2005, 28 : 122 - 122
  • [25] Molecular mechanisms of expression of pyruvate dehydrogenase deficiency associated with the E1α subunit
    Morten, K
    Caky, M
    Matthews, PM
    NEUROLOGY, 1998, 50 (04) : A118 - A118
  • [26] A MUTATION IN THE E1-ALPHA SUBUNIT OF PYRUVATE-DEHYDROGENASE ASSOCIATED WITH VARIABLE EXPRESSION OF PYRUVATE-DEHYDROGENASE COMPLEX DEFICIENCY
    WEXLER, ID
    HEMALATHA, SG
    LIU, TC
    BERRY, SA
    KERR, DS
    PATEL, MS
    PEDIATRIC RESEARCH, 1992, 32 (02) : 169 - 174
  • [27] Mild Phenotype in a Male with Pyruvate Dehydrogenase Complex Deficiency Associated with Novel Hemizygous In-Frame Duplication of the E1α Subunit Gene (PDHA1)
    Steller, J.
    Gargus, J. J.
    Gibbs, L. H.
    Hasso, A. N.
    Kimonis, V. E.
    NEUROPEDIATRICS, 2014, 45 (01) : 56 - 60
  • [28] A novel Y243S mutation in the pyruvate dehydrogenase E1 alpha gene subunit: Correlation with thiamine pyrophosphate interaction
    Benelli, C
    Fouque, F
    Redonnet-Vernhet, I
    Malgat, M
    Fontan, D
    Marsac, C
    Dey, R
    JOURNAL OF INHERITED METABOLIC DISEASE, 2002, 25 (04) : 325 - 327
  • [29] A NOVEL MUTATION (P316L) IN A FEMALE WITH PYRUVATE-DEHYDROGENASE E1-ALPHA DEFICIENCY
    TAKAKUBO, F
    THORBURN, DR
    BROWN, RM
    BROWN, GK
    DAHL, HHM
    HUMAN MUTATION, 1995, 6 (03) : 274 - 275
  • [30] Transfection screening for primary defects in the pyruvate dehydrogenase E1 alpha subunit gene
    Brown, RM
    Otero, LJ
    Brown, GK
    HUMAN MOLECULAR GENETICS, 1997, 6 (08) : 1361 - 1367