ACUTE INTERMITTENT PORPHYRIA - CHARACTERIZATION OF A NOVEL MUTATION IN THE STRUCTURAL GENE FOR PORPHOBILINOGEN DEAMINASE - DEMONSTRATION OF NONCATALYTIC ENZYME INTERMEDIATES STABILIZED BY BOUND SUBSTRATE

被引：61

作者：

DESNICK, RJ

OSTASIEWICZ, LT

TISHLER, PA

MUSTAJOKI, P

机构：

[1] VET ADM MED CTR,BROCKTON,MA 02401

[2] HARVARD UNIV,SCH MED,BOSTON,MA 02115

[3] UNIV HELSINKI,DEPT MED 3,SF-00290 HELSINKI,FINLAND

来源：

JOURNAL OF CLINICAL INVESTIGATION | 1985年 / 76卷 / 02期

关键词：

D O I：

10.1172/JCI112044

中图分类号：

R-3 [医学研究方法]; R3 [基础医学];

学科分类号：

1001 ;

摘要：

引用

页码：865 / 874

页数：10

共 27 条

[1]

ANDERSON PM, 1979, J BIOL CHEM, V254, P6924

[2]

ANDERSON PM, 1980, J BIOL CHEM, V255, P1993

[3] PORPHOBILINOGEN DEAMINASE - METHODS AND PRINCIPLES OF THE ENZYMATIC ASSAY [J].

ANDERSON, PM ;

DESNICK, RJ .

ENZYME, 1982, 28 (2-3) :146-156

[4] CHARACTERIZATION OF THE PORPHOBILINOGEN DEAMINASE DEFICIENCY IN ACUTE INTERMITTENT PORPHYRIA - IMMUNOLOGICAL EVIDENCE FOR HETEROGENEITY OF THE GENETIC-DEFECT [J].

ANDERSON, PM ;

REDDY, RM ;

ANDERSON, KE ;

DESNICK, RJ .

JOURNAL OF CLINICAL INVESTIGATION, 1981, 68 (01) :1-12

[5] FAMILY STUDIES ON ACTIVITY OF UROPORPHYRINOGENI SYNTHASE IN DIAGNOSIS OF ACUTE INTERMITTENT PORPHYRIA [J].

ASTRUP, EG .

CLINICAL SCIENCE AND MOLECULAR MEDICINE, 1978, 54 (03) :251-256

[6] BIOSYNTHESIS OF THE PIGMENTS OF LIFE - FORMATION OF THE MACROCYCLE [J].

BATTERSBY, AR ;

FOOKES, CJR ;

MATCHAM, GWJ ;

MCDONALD, E .

NATURE, 1980, 285 (5759) :17-21

[7] BIOSYNTHESIS OF PORPHYRINS AND RELATED MACROCYCLES .21. THE INTERACTION OF DEAMINASE AND ITS PRODUCT (HYDROXYMETHYLBILANE) AND THE RELATIONSHIP BETWEEN DEAMINASE AND CO-SYNTHETASE [J].

BATTERSBY, AR ;

FOOKES, CJR ;

HART, G ;

MATCHAM, GWJ ;

PANDEY, PS .

JOURNAL OF THE CHEMICAL SOCIETY-PERKIN TRANSACTIONS 1, 1983, (12) :3041-3047

[8] RECURRENCE RISK-ESTIMATION OF ACUTE INTERMITTENT PORPHYRIA BASED ON ANALYSIS OF PORPHOBILINOGEN DEAMINASE ACTIVITY - A BAYESIAN-APPROACH [J].

BONAITIPELLIE, C ;

PHUNG, L ;

NORDMANN, Y .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1984, 19 (04) :755-762

[9]

CASTRO O, 1976, CLIN RES, V24, pA630

[10]

CORASH LM, 1974, J LAB CLIN MED, V84, P147

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