X-CHROMOSOME LOCALIZATION OF THE FUNCTIONAL GENE FOR THE E1-ALPHA SUBUNIT OF THE HUMAN PYRUVATE-DEHYDROGENASE COMPLEX

被引:145
作者
BROWN, RM
DAHL, HHM
BROWN, GK
机构
关键词
D O I
10.1016/0888-7543(89)90297-8
中图分类号
Q81 [生物工程学(生物技术)]; Q93 [微生物学];
学科分类号
071005 ; 0836 ; 090102 ; 100705 ;
摘要
引用
收藏
页码:174 / 181
页数:8
相关论文
共 50 条
[31]   A 4-NUCLEOTIDE INSERTION HOTSPOT IN THE X-CHROMOSOME LOCATED PYRUVATE-DEHYDROGENASE E1-ALPHA-GENE (PDHA1) [J].
TAKAKUBO, F ;
THORBURN, DR ;
DAHL, HHM .
HUMAN MOLECULAR GENETICS, 1993, 2 (04) :473-474
[32]   THE EXPRESSION PATTERN OF THE PYRUVATE-DEHYDROGENASE E1-ALPHA SUBUNIT GENES DURING SPERMATOGENESIS IN ADULT-MOUSE [J].
TAKAKUBO, F ;
DAHL, HHM .
EXPERIMENTAL CELL RESEARCH, 1992, 199 (01) :39-49
[33]   NEURODEVELOPMENTAL ABNORMALITIES AND LACTIC-ACIDOSIS IN A GIRL WITH A 20-BP DELETION IN THE X-LINKED PYRUVATE-DEHYDROGENASE E1-ALPHA SUBUNIT GENE [J].
MATTHEWS, PM ;
BROWN, RM ;
OTERO, L ;
MARCHINGTON, D ;
LEONARD, JV ;
BROWN, GK .
NEUROLOGY, 1993, 43 (10) :2025-2030
[34]   PYRUVATE-DEHYDROGENASE DEFICIENCY IN A MALE CAUSED BY A POINT MUTATION (F205L) IN THE E1-ALPHA SUBUNIT [J].
DAHL, HHM ;
BROWN, GK .
HUMAN MUTATION, 1994, 3 (02) :152-155
[35]   IDENTIFICATION OF A GENE FOR THE PYRUVATE DEHYDROGENASE-E1-ALPHA SUBUNIT WITH A DELETION OF 4 NUCLEOTIDES FROM A PATIENT WITH PYRUVATE-DEHYDROGENASE COMPLEX DEFICIENCY [J].
ENDO, H ;
HASEGAWA, K ;
NARISAWA, K ;
TADA, K ;
KAGAWA, Y ;
OHTA, S .
ALPHA-KETO ACID DEHYDROGENASE COMPLEXES : ORGANIZATION, REGULATION, AND BIOMEDICAL RAMIFICATIONS: A TRIBUTE TO LESTER J REED, 1989, 573 :458-460
[36]   IDENTIFICATION OF A GENE FOR THE PYRUVATE DEHYDROGENASE-E1-ALPHA SUBUNIT WITH A DELETION OF 4 NUCLEOTIDES FROM A PATIENT WITH PYRUVATE-DEHYDROGENASE COMPLEX DEFICIENCY [J].
ENDO, H ;
HASEGAWA, K ;
NARISAWA, K ;
TADA, K ;
KAGAWA, Y ;
OHTA, S .
ANNALS OF THE NEW YORK ACADEMY OF SCIENCES, 1989, 573 :458-460
[38]   PYRUVATE-DEHYDROGENASE (PDH) DEFICIENCY CAUSED BY A 21-BASE PAIR INSERTION MUTATION IN THE E1-ALPHA SUBUNIT [J].
DEMEIRLEIR, L ;
LISSENS, W ;
VAMOS, E ;
LIEBAERS, I .
HUMAN GENETICS, 1992, 88 (06) :649-652
[39]   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 [J].
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
[40]   PYRUVATE-DEHYDROGENASE DEFICIENCY DUE TO A MUTATION OF THE E1 ALPHA SUBUNIT [J].
DEMEIRLEIR, LJ ;
LISSENS, W ;
VAMOS, E ;
LIEBAERS, I .
JOURNAL OF INHERITED METABOLIC DISEASE, 1991, 14 (03) :301-304