Concepedia

Cockayne syndrome without UV-sensitivity in Vietnamese siblings with novel ERCC8 variants

Nguyễn Thùy Dương, Trần Hữu Định, Britta S. Möhl, Stefan Hintze, Do Hai Quynh, Duong Thi Ha, Ngo Diem Ngoc, Vũ Chí Dũng, Noriko Miyake, Nông Văn Hải,

Aging · 2022 · 11 citations · 22 references

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Abstract

Aging | doi:10.18632/aging.204139. Nguyen Thuy Duong, Tran Huu Dinh, Britta S. Möhl, Stefan Hintze, Do Hai Quynh, Duong Thi Thu Ha, Ngo Diem Ngoc, Vu Chi Dung, Noriko Miyake, Nong Van Hai, Naomichi Matsumoto, Peter Meinke

References

22

ERCC6, a member of a subfamily of putative helicases, is involved in Cockayne's syndrome and preferential repair of active genes

Christine Troelstra, Alain J. van Gool, Jan de Wit et al. · Cell · 1992 · 730 citations · Full text

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The Cockayne syndrome group A gene encodes a WD repeat protein that interacts with CSB protein and a subunit of RNA polymerase II TFIIH

Karla A. Henning, Lei Li, Narayan V. Iyer et al. · Cell · 1995 · 505 citations · Full text

, , +15

The Molecular Basis of CRL4DDB2/CSA Ubiquitin Ligase Architecture, Targeting, and Activation

Eric S. Fischer, Andrea Scrima, Kerstin Böhm et al. · Cell · 2011 · 458 citations · Full text

, , +11

Failure of RNA synthesis to recover after UV irradiation; An early defect in cells from individuals with Cockayne syndrome and xeroderma pigmentosum

Lynne V. Mayne, Alan R. Lehmann · Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis · 1982 · 420 citations

, , +12

CSA-dependent degradation of CSB by the ubiquitin–proteasome pathway establishes a link between complementation factors of the Cockayne syndrome

Regina Groisman, Isao Kuraoka, Odile Chevallier et al. · Genes & Development · 2006 · 263 citations · Full text

, , +13