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
[41]   AN AMINO-ACID SUBSTITUTION IN THE PYRUVATE-DEHYDROGENASE E1-ALPHA GENE, AFFECTING MITOCHONDRIAL IMPORT OF THE PRECURSOR PROTEIN [J].
TAKAKUBO, F ;
CARTWRIGHT, P ;
HOOGENRAAD, N ;
THORBURN, DR ;
COLLINS, F ;
LITHGOW, T ;
DAHL, HHM .
AMERICAN JOURNAL OF HUMAN GENETICS, 1995, 57 (04) :772-780
[42]   A NOVEL MUTATION (P316L) IN A FEMALE WITH PYRUVATE-DEHYDROGENASE E1-ALPHA DEFICIENCY [J].
TAKAKUBO, F ;
THORBURN, DR ;
BROWN, RM ;
BROWN, GK ;
DAHL, HHM .
HUMAN MUTATION, 1995, 6 (03) :274-275
[43]   PHOSPHORYLATION STATE OF PYRUVATE-DEHYDROGENASE COMPLEX E1-ALPHA-SUBUNIT IN INS-1 CELLS [J].
BORGHINI, I ;
WOLLHEIM, CB ;
PRALONG, WF .
DIABETOLOGIA, 1995, 38 :A144-A144
[44]   MUTATION OF E1-ALPHA GENE IN A FEMALE-PATIENT WITH PYRUVATE-DEHYDROGENASE DEFICIENCY DUE TO RAPID DEGRADATION OF E1 PROTEIN [J].
ITO, M ;
HUQ, AHMM ;
NAITO, E ;
SAIJO, T ;
TAKEDA, E ;
KURODA, Y .
JOURNAL OF INHERITED METABOLIC DISEASE, 1992, 15 (06) :848-856
[45]   IDENTIFICATION OF A CDNA CLONE FOR THE BETA-SUBUNIT OF THE PYRUVATE-DEHYDROGENASE COMPONENT OF HUMAN PYRUVATE-DEHYDROGENASE COMPLEX [J].
HO, L ;
JAVED, AA ;
PEPIN, RA ;
THEKKUMKARA, TJ ;
RAEFSKY, C ;
MOLE, JE ;
CALIENDO, AM ;
KWON, MS ;
KERR, DS ;
PATEL, MS .
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1988, 150 (03) :904-908
[46]   ISOLATION, CHARACTERIZATION AND CHROMOSOMAL LOCALIZATION OF CDNA CLONES FOR THE E1-BETA-SUBUNIT OF THE PYRUVATE-DEHYDROGENASE COMPLEX [J].
CHUN, K ;
MACKAY, N ;
WILLARD, HF ;
ROBINSON, BH .
EUROPEAN JOURNAL OF BIOCHEMISTRY, 1990, 194 (02) :587-592
[47]   CHARACTERIZATION OF SACCHAROMYCES-CEREVISIAE MUTANTS LACKING THE E1-ALPHA-SUBUNIT OF THE PYRUVATE-DEHYDROGENASE COMPLEX [J].
WENZEL, TJ ;
VANDENBERG, MA ;
VISSER, W ;
VANDENBERG, JA ;
STEENSMA, HY .
EUROPEAN JOURNAL OF BIOCHEMISTRY, 1992, 209 (02) :697-705
[48]   ASSIGNMENT OF THE GENE FOR THE E1-ALPHA SUBUNIT OF BRANCHED-CHAIN ALPHA-KETOACID DEHYDROGENASE TO CHROMOSOME-19 [J].
CRABB, DW ;
DEAVEN, LL ;
LUEDEMANN, M ;
ZHANG, B ;
HARRIS, RA .
CYTOGENETICS AND CELL GENETICS, 1989, 50 (01) :40-41
[49]   THE HUMAN PYRUVATE-DEHYDROGENASE COMPLEX - A POLYMORPHIC REGION OF THE LIPOATE ACETYL TRANSFERASE (E2) SUBUNIT GENE [J].
MOEHARIO, LH ;
WANG, L ;
DEVENISH, RJ ;
MACKAY, IR ;
MARZUKI, S .
BIOCHIMICA ET BIOPHYSICA ACTA, 1991, 1097 (02) :128-132
[50]   CHARACTERIZATION OF THE PROMOTER REGION OF THE BETA-SUBUNIT OF THE HUMAN PYRUVATE-DEHYDROGENASE (E1) GENE [J].
NAIK, SS ;
MADHUSUDHAN, KT ;
PATEL, MS .
FASEB JOURNAL, 1993, 7 (07) :A1220-A1220