ADRENOLEUKODYSTROPHY AND OTHER PEROXISOMAL DISEASES

被引:19
作者
AUBOURG, P [1 ]
机构
[1] INSERM, U342, F-75014 PARIS, FRANCE
关键词
D O I
10.1016/0959-437X(94)90029-9
中图分类号
Q2 [细胞生物学];
学科分类号
071009 ; 090102 ;
摘要
The gene predisposing for X-linked adrenoleukodystrophy (ALD), the most common peroxisomal disorder, has been identified recently by positional cloning. The ALD protein is a 75 kDa peroxisomal membrane protein belonging to the family of ATP-binding cassette transporter proteins. With the combination of genetic complementation and candidate gene approaches, two genes responsible for Zellweger syndrome, a group of genetically heterogeneous disorders affecting peroxisome biogenesis, have also been identified.
引用
收藏
页码:407 / 411
页数:5
相关论文
共 37 条
[1]  
AUBOURG P, 1990, AM J HUM GENET, V46, P459
[2]   LINKAGE OF ADRENOLEUKODYSTROPHY TO A POLYMORPHIC DNA PROBE [J].
AUBOURG, PR ;
SACK, GH ;
MEYERS, DA ;
LEASE, JJ ;
MOSER, HW .
ANNALS OF NEUROLOGY, 1987, 21 (04) :349-352
[3]  
AUBOURG PR, 1988, AM J HUM GENET, V42, P408
[4]   1ST TRIMESTER PRENATAL-DIAGNOSIS OF ADRENOLEUKODYSTROPHY BY DETERMINATION OF VERY LONG-CHAIN FATTY-ACID LEVELS AND BY LINKAGE ANALYSIS TO A DNA PROBE [J].
BOUE, J ;
OBERLE, I ;
HEILIG, R ;
MANDEL, JL ;
MOSER, A ;
MOSER, H ;
LARSEN, JW ;
DUMEZ, Y ;
BOUE, A .
HUMAN GENETICS, 1985, 69 (03) :272-274
[5]   ABNORMAL MESSENGER-RNA EXPRESSION AND A MISSENSE MUTATION IN PATIENTS WITH X-LINKED ADRENOLEUKODYSTROPHY [J].
CARTIER, N ;
SARDE, CO ;
DOUAR, AM ;
MOSSER, J ;
MANDEL, JL ;
AUBOURG, P .
HUMAN MOLECULAR GENETICS, 1993, 2 (11) :1949-1951
[6]  
DANPURE CJ, 1993, AM J HUM GENET, V53, P417
[7]   A 195-KB COSMID WALK ENCOMPASSING THE HUMAN XQ28 COLOR-VISION PIGMENT GENES [J].
FEIL, R ;
AUBOURG, P ;
HEILIG, R ;
MANDEL, JL .
GENOMICS, 1990, 6 (02) :367-373
[8]  
FEIL R, 1991, AM J HUM GENET, V49, P1361
[9]   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
[10]   LOCALIZATION OF THE 70-KDA PEROXISOMAL MEMBRANE-PROTEIN TO HUMAN 1P21-P22 AND MOUSE-3 [J].
GARTNER, J ;
KEARNS, W ;
ROSENBERG, C ;
PEARSON, P ;
COPELAND, NG ;
GILBERT, DJ ;
JENKINS, NA ;
VALLE, D .
GENOMICS, 1993, 15 (02) :412-414