MOUSE MODELS OF NIEMANN-PICK DISEASE - MUTATION ANALYSIS AND CHROMOSOMAL MAPPING RULE OUT THE TYPE-A AND TYPE-B FORMS

被引:8
作者
HORINOUCHI, K
SAKIYAMA, T
PEREIRA, L
LALLEY, PA
SCHUCHMAN, EH
机构
[1] MT SINAI SCH MED,DEPT HUMAN GENET,NEW YORK,NY 10029
[2] NIHON UNIV,SCH MED,DEPT PEDIAT,TOKYO,TOKYO,JAPAN
[3] WAYNE STATE UNIV,SCH MED,DEPT MOLEC BIOL & BIOCHEM,DETROIT,MI
关键词
D O I
10.1006/geno.1993.1497
中图分类号
Q81 [生物工程学(生物技术)]; Q93 [微生物学];
学科分类号
071005 ; 0836 ; 090102 ; 100705 ;
摘要
[No abstract available]
引用
收藏
页码:450 / 451
页数:2
相关论文
共 10 条
[1]   LINKAGE OF NIEMANN-PICK DISEASE TYPE-C TO HUMAN CHROMOSOME-18 [J].
CARSTEA, ED ;
POLYMEROPOULOS, MH ;
PARKER, CC ;
DETERAWADLEIGH, SD ;
ONEILL, RR ;
PATTERSON, MC ;
GOLDIN, E ;
XIAO, H ;
STRAUB, RE ;
VANIER, MT ;
BRADY, RO ;
PENTCHEV, PG .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1993, 90 (05) :2002-2004
[2]   NIEMANN-PICK DISEASE - A FREQUENT MISSENSE MUTATION IN THE ACID SPHINGOMYELINASE GENE OF ASHKENAZI JEWISH TYPE-A AND TYPE-B PATIENTS [J].
LEVRAN, O ;
DESNICK, RJ ;
SCHUCHMAN, EH .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1991, 88 (09) :3748-3752
[3]   NIEMANN-PICK TYPE-B DISEASE - IDENTIFICATION OF A SINGLE CODON DELETION IN THE ACID SPHINGOMYELINASE GENE AND GENOTYPE PHENOTYPE CORRELATIONS IN TYPE-A AND TYPE-B PATIENTS [J].
LEVRAN, O ;
DESNICK, RJ ;
SCHUCHMAN, EH .
JOURNAL OF CLINICAL INVESTIGATION, 1991, 88 (03) :806-810
[4]   SPHINGOMYELINOSIS, A NEW MUTATION IN THE MOUSE - A MODEL OF NIEMANN-PICK DISEASE IN HUMANS [J].
MIYAWAKI, S ;
MITSUOKA, S ;
SAKIYAMA, T ;
KITAGAWA, T .
JOURNAL OF HEREDITY, 1982, 73 (04) :257-263
[5]  
NEWRZELLA D, 1992, BIOL CHEM HOPPESEYLE, V375, P1233
[6]   A CELL-LINE DERIVED FROM SPHINGOMYELINOSIS MOUSE SHOWS ALTERATIONS IN INTRACELLULAR CHOLESTEROL-METABOLISM SIMILAR TO THOSE IN TYPE-C NIEMANN-PICK DISEASE [J].
OHNO, K ;
NANBA, E ;
MIYAWAKI, S ;
SAKIYAMA, T ;
KITAGAWA, T ;
TAKESHITA, K .
CELL STRUCTURE AND FUNCTION, 1992, 17 (04) :229-235
[7]   A LYSOSOMAL STORAGE DISORDER IN MICE CHARACTERIZED BY A DUAL DEFICIENCY OF SPHINGOMYELINASE AND GLUCOCEREBROSIDASE [J].
PENTCHEV, PG ;
GAL, AE ;
BOOTH, AD ;
OMODEOSALE, F ;
FOUKS, J ;
NEUMEYER, BA ;
QUIRK, JM ;
DAWSON, G ;
BRADY, RO .
BIOCHIMICA ET BIOPHYSICA ACTA, 1980, 619 (03) :669-679
[8]  
PEREIRA L, 1991, GENOMICS, V9, P8531
[9]   A MOLECULAR GENETIC-LINKAGE MAP OF MOUSE CHROMOSOME-18, INCLUDING SPM, GRL-1, FIM-2/C-FMS, AND MBP [J].
SAKAI, Y ;
MIYAWAKI, S ;
SHIMIZU, A ;
OHNO, K ;
WATANABE, T .
BIOCHEMICAL GENETICS, 1991, 29 (1-2) :103-113
[10]  
SPENCE MW, 1989, METABOLIC BASIS INHE, P1655