PYRUVATE-DEHYDROGENASE COMPLEX DEFICIENCY DUE TO A POINT MUTATION (P188L) WITHIN THE THIAMINE PYROPHOSPHATE BINDING LOOP OF THE E(1)ALPHA SUBUNIT

被引：16

作者：

HEMALATHA, SG

KERR, DS

WEXLER, ID

LUSK, MM

KAUNG, M

DU, YF

KOLLI, M

SCHELPER, RL

PATEL, MS

机构：

[1] CASE WESTERN RESERVE UNIV,SCH MED,DEPT BIOCHEM,CLEVELAND,OH 44106

[2] CASE WESTERN RESERVE UNIV,SCH MED,DEPT PEDIAT,CLEVELAND,OH 44106

[3] SUNY BUFFALO,DEPT BIOCHEM,BUFFALO,NY 14214

[4] UNIV IOWA,DEPT PATHOL,IOWA CITY,IA 52242

来源：

HUMAN MOLECULAR GENETICS | 1995年 / 4卷 / 02期

关键词：

D O I：

10.1093/hmg/4.2.315

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：

引用

页码：315 / 318

页数：4

共 23 条

[1] MUTATIONS IN THE X-LINKED E1-ALPHA SUBUNIT OF PYRUVATE-DEHYDROGENASE LEADING TO DEFICIENCY OF THE PYRUVATE-DEHYDROGENASE COMPLEX [J].

CHUN, K ;

MACKAY, N ;

PETROVABENEDICT, R ;

ROBINSON, BH .

HUMAN MOLECULAR GENETICS, 1993, 2 (04) :449-454

[2]

Dahl H.-H. M., 1992, Human Mutation, V1, P97, DOI 10.1002/humu.1380010203

[3]

Dixon M., 1979, ENZYMES, P47

[4] A COMMON STRUCTURAL MOTIF IN THIAMIN PYROPHOSPHATE-BINDING ENZYMES [J].

HAWKINS, CF ;

BORGES, A ;

PERHAM, RN .

FEBS LETTERS, 1989, 255 (01) :77-82

[5] CHARACTERIZATION OF CDNAS ENCODING HUMAN PYRUVATE-DEHYDROGENASE ALPHA-SUBUNIT [J].

HO, L ;

WEXLER, ID ;

LIU, TC ;

THEKKUMKARA, TJ ;

PATEL, MS .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1989, 86 (14) :5330-5334

[6] SYSTEMIC DEFICIENCY OF THE 1ST COMPONENT OF THE PYRUVATE-DEHYDROGENASE COMPLEX [J].

KERR, DS ;

HO, L ;

BERLIN, CM ;

LANOUE, KF ;

TOWFIGHI, J ;

HOPPEL, CL ;

LUSK, MM ;

GONDEK, CM ;

PATEL, MS .

PEDIATRIC RESEARCH, 1987, 22 (03) :312-318

[7]

KERR DS, 1966, DISSERT ABSTR, V27, P1

[8]

KERR DS, 1988, PEDIATR RES, V23, P95

[9] 3-DIMENSIONAL STRUCTURE OF TRANSKETOLASE, A THIAMINE DIPHOSPHATE DEPENDENT ENZYME, AT 2.5 ANGSTROM RESOLUTION [J].

LINDQVIST, Y ;

SCHNEIDER, G ;

ERMLER, U ;

SUNDSTROM, M .

EMBO JOURNAL, 1992, 11 (07) :2373-2379

[10]

MARAGOS C, 1989, J BIOL CHEM, V264, P12294

← 1 2 3 →