LYSOSOMAL STORAGE DISEASES

被引:110
作者
GIESELMANN, V [1 ]
机构
[1] UNIV GOTTINGEN,DEPT BIOCHEM 2,W-3400 GOTTINGEN,GERMANY
来源
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE | 1995年 / 1270卷 / 2-3期
关键词
LYSOSOMAL STORAGE DISEASE; LYSOSOMAL ENZYME;
D O I
10.1016/0925-4439(94)00075-2
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
收藏
页码:103 / 136
页数:34
相关论文
共 403 条
[11]   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
[12]  
ASHTON LJ, 1992, AM J HUM GENET, V50, P787
[13]   GENOMIC ORGANIZATION OF THE HUMAN LYSOSOMAL ACID LIPASE GENE (LIPA) [J].
ASLANIDIS, C ;
KLIMA, H ;
LACKNER, KJ ;
SCHMITZ, G .
GENOMICS, 1994, 20 (02) :329-331
[14]  
BACH G, 1993, AM J HUM GENET, V53, P330
[15]   MOLECULAR-BASIS OF AN ADULT FORM OF BETA-HEXOSAMINIDASE-B DEFICIENCY WITH MOTOR-NEURON DISEASE [J].
BANERJEE, P ;
SICILIANO, L ;
OLIVERI, D ;
MCCABE, NR ;
BOYERS, MJ ;
HORWITZ, AL ;
LI, SC ;
DAWSON, G .
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1991, 181 (01) :108-115
[16]  
BARANSKI TJ, 1991, J BIOL CHEM, V266, P23365
[17]   GENERATION OF A LYSOSOMAL-ENZYME TARGETING SIGNAL IN THE SECRETORY PROTEIN PEPSINOGEN [J].
BARANSKI, TJ ;
FAUST, PL ;
KORNFELD, S .
CELL, 1990, 63 (02) :281-291
[18]  
BARANSKI TJ, 1992, J BIOL CHEM, V267, P22342
[19]  
BARTH ML, 1993, HUM GENET, V91, P73
[20]   MISSENSE MUTATIONS IN THE ARYLSULFATASE-A GENES OF METACHROMATIC LEUKODYSTROPHY PATIENTS [J].
BARTH, ML ;
FENSOM, A ;
HARRIS, A .
HUMAN MOLECULAR GENETICS, 1993, 2 (12) :2117-2121