DNA helicases in inherited human disorders

被引：115
作者：
Ellis, NA
机构：
[1] Laboratory of Human Genetics, New York Blood Center, New York, NY 10021
来源：
CURRENT OPINION IN GENETICS & DEVELOPMENT | 1997年 / 7卷 / 03期
关键词：
D O I：
10.1016/S0959-437X(97)80149-9
中图分类号：
Q2 [细胞生物学];
学科分类号：
071009 ; 090102 ;
摘要：
Six known or predicted helicases that are mutated in human syndromes are now recognized. These syndromes include xeroderma pigmentosum, Cockayne's syndrome, trichothiodystrophy, Bloom's syndrome, Werner's syndrome, and alpha-thalassemia mental retardation on the X chromosome. The clinical abnormalities in these syndromes cover a broad spectrum, pointing to different cellular processes of DNA manipulation that are defective in these syndromes.
引用
收藏
页码：354 / 363
页数：10
相关论文
共 50 条
[41]   DNA-SYNTHESIS AT A FORK IN THE PRESENCE OF DNA HELICASES [J].
KUHN, B ;
ABDELMONEM, M .
EUROPEAN JOURNAL OF BIOCHEMISTRY, 1982, 125 (01) :63-68
[42]   Borrowing Nuclear DNA Helicases to Protect Mitochondrial DNA [J].
Ding, Lin ;
Liu, Yilun .
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2015, 16 (05) :10870-10887
[43]   EUKARYOTIC DNA HELICASES - ESSENTIAL ENZYMES FOR DNA TRANSACTIONS [J].
THOMMES, P ;
HUBSCHER, U .
CHROMOSOMA, 1992, 101 (08) :467-473
[44]   DNA and RNA helicases singlemolecule assays [J].
Raj, S. ;
Manosas, M. ;
Fiorini, F. ;
Bagchi, D. ;
Le Hir, H. ;
Banroques, J. ;
Taner, K. ;
Croquette, V. .
EUROPEAN BIOPHYSICS JOURNAL WITH BIOPHYSICS LETTERS, 2015, 44 :S92-S92
[45]   Structure and function of RecQ DNA helicases [J].
Bennett, RJ ;
Keck, JL .
CRITICAL REVIEWS IN BIOCHEMISTRY AND MOLECULAR BIOLOGY, 2004, 39 (02) :79-97
[46]   DNA helicases: The long unwinding road [J].
Tuteja, N ;
Tuteja, R .
NATURE GENETICS, 1996, 13 (01) :11-12
[47]   Visualization and translocation mechanism of DNA helicases [J].
Kowalczykowski, S ;
Balhorn, R ;
Baskin, RJ ;
Bianco, PR ;
Brewer, LR ;
Corzett, M ;
Dillingham, M ;
Handa, N ;
Harmon, FG ;
Morimatsu, K ;
Spies, M ;
Yeh, Y .
BIOPHYSICAL JOURNAL, 2002, 82 (01) :503A-503A
[48]   Fluorometric assays for characterizing DNA helicases [J].
Dou, Shuo-Xing ;
Xi, Xu Guang .
METHODS, 2010, 51 (03) :295-302
[49]   DNA HELICASES OF ESCHERICHIA-COLI [J].
MATSON, SW .
PROGRESS IN NUCLEIC ACID RESEARCH AND MOLECULAR BIOLOGY, 1991, 40 :289-326
[50]   Human mitochondrial DNA: roles of inherited and somatic mutations [J].
Schon, Eric A. ;
DiMauro, Salvatore ;
Hirano, Michio .
NATURE REVIEWS GENETICS, 2012, 13 (12) :878-890
12345