Mutations in PEX1 in peroxisome biogenesis disorders:: G843D and a mild clinical phenotype

被引:24
作者
Gärtner, J [1 ]
Preuss, N [1 ]
Brosius, U [1 ]
Biermanns, M [1 ]
机构
[1] Univ Dusseldorf, Dept Paediat, D-40225 Dusseldorf, Germany
关键词
D O I
10.1023/A:1005599903632
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:311 / 313
页数:3
相关论文
共 8 条
[1]  
Cooper D, 1995, METABOLIC MOL BASES, P259
[2]   The sorting sequence of the peroxisomal integral membrane protein PMP47 is contained within a short hydrophilic loop [J].
Dyer, JM ;
McNew, JA ;
Goodman, JM .
JOURNAL OF CELL BIOLOGY, 1996, 133 (02) :269-280
[3]   MUTATIONS IN THE 70K PEROXISOMAL MEMBRANE-PROTEIN GENE IN ZELLWEGER SYNDROME [J].
GARTNER, J ;
MOSER, H ;
VALLE, D .
NATURE GENETICS, 1992, 1 (01) :16-23
[4]   A CONSERVED TRIPEPTIDE SORTS PROTEINS TO PEROXISOMES [J].
GOULD, SJ ;
KELLER, GA ;
HOSKEN, N ;
WILKINSON, J ;
SUBRAMANI, S .
JOURNAL OF CELL BIOLOGY, 1989, 108 (05) :1657-1664
[5]  
Lazarow PB, 1995, METABOLIC MOL BASES, P2287
[6]   Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders [J].
Portsteffen, H ;
Beyer, A ;
Becker, E ;
Epplen, C ;
Pawlak, A ;
Kunau, WH ;
Dodt, G .
NATURE GENETICS, 1997, 17 (04) :449-452
[7]   Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders [J].
Reuber, BE ;
GermainLee, E ;
Collins, CS ;
Morrell, JC ;
Ameritunga, R ;
Moser, HW ;
Valle, D ;
Gould, SJ .
NATURE GENETICS, 1997, 17 (04) :445-448
[8]   A NOVEL, CLEAVABLE PEROXISOMAL TARGETING SIGNAL AT THE AMINO-TERMINUS OF THE RAT 3-KETOACYL-COA THIOLASE [J].
SWINKELS, BW ;
GOULD, SJ ;
BODNAR, AG ;
RACHUBINSKI, RA ;
SUBRAMANI, S .
EMBO JOURNAL, 1991, 10 (11) :3255-3262