CDNA CLONING OF THE E1-ALPHA SUBUNIT OF THE BRANCHED-CHAIN ALPHA-KETO ACID DEHYDROGENASE AND ELUCIDATION OF A MOLECULAR-BASIS FOR MAPLE SYRUP URINE DISEASE

被引：0

作者：

ZHANG, B

KUNTZ, MJ

GOODWIN, GW

EDENBERG, HJ

CRABB, DW

HARRIS, RA

机构：

来源：

ALPHA-KETO ACID DEHYDROGENASE COMPLEXES : ORGANIZATION, REGULATION, AND BIOMEDICAL RAMIFICATIONS: A TRIBUTE TO LESTER J REED | 1989年 / 573卷

关键词：

D O I：

暂无

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：130 / 136

页数：7

共 50 条

[1] CDNA CLONING OF THE E1-ALPHA SUBUNIT OF THE BRANCHED-CHAIN ALPHA-KETO ACID DEHYDROGENASE AND ELUCIDATION OF A MOLECULAR-BASIS FOR MAPLE SYRUP URINE DISEASE
ZHANG, B
KUNTZ, MJ
GOODWIN, GW
EDENBERG, HJ
CRABB, DW
HARRIS, RA
ANNALS OF THE NEW YORK ACADEMY OF SCIENCES, 1989, 573 : 130 - 136
[2] REGULATION OF THE BRANCHED-CHAIN ALPHA-KETOACID DEHYDROGENASE AND ELUCIDATION OF A MOLECULAR-BASIS FOR MAPLE SYRUP URINE DISEASE
HARRIS, RA
ZHANG, B
GOODWIN, GW
KUNTZ, MJ
SHIMOMURA, Y
ROUGRAFF, P
DEXTER, P
ZHAO, Y
GIBSON, R
CRABB, DW
ADVANCES IN ENZYME REGULATION, 1990, 30 : 245 - +
[3] MOLECULAR PHENOTYPES IN CULTURED MAPLE SYRUP URINE DISEASE CELLS - COMPLETE E1-ALPHA CDNA SEQUENCE AND MESSENGER-RNA AND SUBUNIT CONTENTS OF THE HUMAN BRANCHED-CHAIN ALPHA-KETO ACID DEHYDROGENASE COMPLEX
FISHER, CW
CHUANG, JL
GRIFFIN, TA
LAU, KS
COX, RP
CHUANG, DT
JOURNAL OF BIOLOGICAL CHEMISTRY, 1989, 264 (06) : 3448 - 3453
[4] DEFINING BRANCHED-CHAIN ALPHA-KETO ACID DEHYDROGENASE-DEFICIENCY IN MAPLE-SYRUP-URINE DISEASE
FISHER, CW
LAU, KS
GRIFFIN, TA
CHUANG, JL
HU, CWC
COX, RP
CHUANG, DT
FASEB JOURNAL, 1988, 2 (05) : A1547 - A1547
[5] A STRUCTURAL ABNORMALITY OF E1 COMPONENT OF THE BRANCHED-CHAIN ALPHA-KETO ACID DEHYDROGENASE COMPLEX IN MAPLE SYRUP URINE DISEASE
INDO, Y
KITANO, A
AKABOSHI, I
ENDO, F
MATSUDA, I
JOURNAL OF INHERITED METABOLIC DISEASE, 1987, 10 (03) : 281 - 283
[6] IDENTIFICATION OF A MUTATION IN THE BRANCHED-CHAIN KETOACID DEHYDROGENASE E1-ALPHA SUBUNIT IN A PATIENT WITH CLASSICAL MAPLE SYRUP URINE DISEASE
ZHANG, B
EDENBERG, HJ
HARRIS, RA
CRABB, DW
CLINICAL RESEARCH, 1988, 36 (06): : A885 - A885
[7] BRANCHED-CHAIN ALPHA-KETO ACIDS FOR THE DIAGNOSIS OF MAPLE-SYRUP-URINE DISEASE
PARSONS, H
FUNG, E
SNYDER, FF
NEW ENGLAND JOURNAL OF MEDICINE, 1987, 316 (15) : 951 - 951
[8] MOLECULAR-BASIS OF MAPLE-SYRUP-URINE-DISEASE - NOVEL MUTATIONS AT THE E1-ALPHA LOCUS THAT IMPAIR E1(ALPHA(2)BETA(2)) ASSEMBLY OR DECREASE STEADY-STATE E1-ALPHA MESSENGER-RNA LEVELS OF BRANCHED-CHAIN ALPHA-KETO ACID DEHYDROGENASE COMPLEX
CHUANG, JL
FISHER, CR
COX, RP
CHUANG, DT
AMERICAN JOURNAL OF HUMAN GENETICS, 1994, 55 (02) : 297 - 304
[9] MAPLE SYRUP URINE DISEASE IN MENNONITES - EVIDENCE THAT THE Y393N MUTATION IN E1-ALPHA IMPEDES ASSEMBLY OF THE E1-COMPONENT OF BRANCHED-CHAIN ALPHA-KETO ACID DEHYDROGENASE COMPLEX
FISHER, CR
CHUANG, JL
COX, RP
FISHER, CW
STAR, RA
CHUANG, DT
JOURNAL OF CLINICAL INVESTIGATION, 1991, 88 (03) : 1034 - 1037
[10] OCCURRENCE OF A TYR393 TO ASN MUTATION IN EXON 9 OF THE E1-ALPHA GENE OF THE BRANCHED-CHAIN ALPHA-KETO ACID DEHYDROGENASE COMPLEX IN MENNONITE MAPLE SYRUP URINE DISEASE PATIENTS
FISHER, CR
FISHER, CW
CHUANG, DT
COX, RP
FASEB JOURNAL, 1991, 5 (05) : A1199 - A1199

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