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Literature DB >> 9229111

DNA helicases in inherited human disorders.

Abstract

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.

Entities: Disease Species

Mesh：

Substances：

Year: 1997 PMID： 9229111 DOI： 10.1016/s0959-437x(97)80149-9

Source DB: PubMed Journal: Curr Opin Genet Dev ISSN： 0959-437X Impact factor: 5.578

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Cited

37 in total

1. p53-mediated apoptosis is attenuated in Werner syndrome cells.

Authors: E A Spillare; A I Robles; X W Wang; J C Shen; C E Yu; G D Schellenberg; C C Harris
Journal: Genes Dev Date: 1999-06-01 Impact factor: 11.361

2. Ku complex interacts with and stimulates the Werner protein.

Authors: M P Cooper; A Machwe; D K Orren; R M Brosh; D Ramsden; V A Bohr
Journal: Genes Dev Date: 2000-04-15 Impact factor: 11.361

3. IFN-gamma-dependent transcription of MHC class II IA is impaired in macrophages from aged mice.

Authors: C Herrero; L Marqués; J Lloberas; A Celada
Journal: J Clin Invest Date: 2001-02 Impact factor: 14.808

4. Werner protein recruits DNA polymerase delta to the nucleolus.

Authors: A M Szekely; Y H Chen; C Zhang; J Oshima; S M Weissman
Journal: Proc Natl Acad Sci U S A Date: 2000-10-10 Impact factor: 11.205

5. Measurement of steady-state kinetic parameters for DNA unwinding by the bacteriophage T4 Dda helicase: use of peptide nucleic acids to trap single-stranded DNA products of helicase reactions.

Authors: B Nanduri; R L Eoff; A J Tackett; K D Raney
Journal: Nucleic Acids Res Date: 2001-07-01 Impact factor: 16.971

DNA helicases in inherited human disorders.

1. p53-mediated apoptosis is attenuated in Werner syndrome cells.

2. Ku complex interacts with and stimulates the Werner protein.

3. IFN-gamma-dependent transcription of MHC class II IA is impaired in macrophages from aged mice.

4. Werner protein recruits DNA polymerase delta to the nucleolus.

5. Measurement of steady-state kinetic parameters for DNA unwinding by the bacteriophage T4 Dda helicase: use of peptide nucleic acids to trap single-stranded DNA products of helicase reactions.

6. Simultaneously monitoring DNA binding and helicase-catalyzed DNA unwinding by fluorescence polarization.

7. Analysis of the DNA translocation and unwinding activities of T4 phage helicases.

8. Hepatitis C virus NS3 helicase forms oligomeric structures that exhibit optimal DNA unwinding activity in vitro.

9. Single-molecule nanopositioning: structural transitions of a helicase-DNA complex during ATP hydrolysis.

10. Structure and Mechanisms of SF1 DNA Helicases.