THE BIOCHEMISTRY OF HEXA AND HEXB GENE-MUTATIONS CAUSING GM2 GANGLIOSIDOSIS

被引：58

作者：

MAHURAN, DJ ^{[1
]}

机构：

[1] UNIV TORONTO,DEPT CLIN BIOCHEM,TORONTO M5S 1A1,ONTARIO,CANADA

来源：

BIOCHIMICA ET BIOPHYSICA ACTA | 1991年 / 1096卷 / 02期

关键词：

LYSOSOMAL STORAGE DISEASE; BETA-HEXOSAMINIDASE ISOZYME; TAY-SACHS DISEASE; SANDHOFF DISEASE;

D O I：

10.1016/0925-4439(91)90044-A

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：

[No abstract available]

引用

页码：87 / 94

页数：8

共 80 条

[1]

AKLI S, 1990, J BIOL CHEM, V265, P7324

[2]

ANDERMANN E, 1977, DISEASE SCREENING PR, P161

[3] CLINICAL AND GENETIC VARIATIONS IN THE SYNDROME OF ADULT GM2 GANGLIOSIDOSIS RESULTING FROM HEXOSAMINIDASE-A DEFICIENCY [J].

ARGOV, Z ;

NAVON, R .

ANNALS OF NEUROLOGY, 1984, 16 (01) :14-20

[4] IDENTIFICATION OF AN ALTERED SPLICE SITE IN ASHKENAZI TAY-SACHS DISEASE [J].

ARPAIA, E ;

DUMBRILLEROSS, A ;

MALER, T ;

NEOTE, K ;

TROPAK, M ;

TROXEL, C ;

STIRLING, JL ;

PITTS, JS ;

BAPAT, B ;

LAMHONWAH, AM ;

MAHURAN, DJ ;

SCHUSTER, SM ;

CLARKE, JTR ;

LOWDEN, JA ;

GRAVEL, RA .

NATURE, 1988, 333 (6168) :85-86

[5] I-CELL DISEASE - DEFICIENCY OF EXTRACELLULAR HYDROLASE PHOSPHORYLATION [J].

BACH, G ;

BARGAL, R ;

CANTZ, M .

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1979, 91 (03) :976-981

[6] CLONING AND SEQUENCE-ANALYSIS OF A CDNA-ENCODING THE BETA-SUBUNIT OF MOUSE BETA-HEXOSAMINIDASE [J].

BAPAT, B ;

ETHIER, M ;

NEOTE, K ;

MAHURAN, D ;

GRAVEL, RA .

FEBS LETTERS, 1988, 237 (1-2) :191-195

[7] SYNTHESIS OF 4-METHYLUMBELLIFERYL-BETA-D-N-ACETYLGLUCOSAMINE-6-SULFATE AND ITS USE IN CLASSIFICATION OF GM2 GANGLIOSIDOSIS GENOTYPES [J].

BAYLERAN, J ;

HECHTMAN, P ;

SARAY, W .

CLINICA CHIMICA ACTA, 1984, 143 (02) :73-89

[8] ASSIGNMENT OF HUMAN GENE FOR HEXOSAMINIDASE-B TO CHROMOSOME-5 [J].

BOEDECKER, HJ ;

MELLMAN, WJ ;

TEDESCO, TA ;

CROCE, CM .

EXPERIMENTAL CELL RESEARCH, 1975, 93 (02) :468-472

[9]

BROWN CA, 1989, J BIOL CHEM, V264, P21705

[10] MAPPING OF THE GENE CODING FOR THE HUMAN GM2 ACTIVATOR PROTEIN TO CHROMOSOME-5 [J].

BURG, J ;

CONZELMANN, E ;

SANDHOFF, K ;

SOLOMON, E ;

SWALLOW, DM .

ANNALS OF HUMAN GENETICS, 1985, 49 (JAN) :41-45

← 1 2 3 4 5 6 7 8 →