Literature DB >> 18185538

Adult-onset neurological degeneration in a patient with Cockayne syndrome and a null mutation in the CSB gene.

Satoru Hashimoto, Tomohiro Suga, Erina Kudo, Hironobu Ihn, Makoto Uchino, Satoshi Tateishi.   

Abstract

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Year:  2008        PMID： 18185538     DOI： 10.1038/sj.jid.5701210

Source DB:  PubMed          Journal:  J Invest Dermatol        ISSN： 0022-202X            Impact factor:   8.551


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  14 in total

1.  Cockayne syndrome group B protein regulates DNA double-strand break repair and checkpoint activation.

Authors:  Nicole L Batenburg; Elizabeth L Thompson; Eric A Hendrickson; Xu-Dong Zhu
Journal:  EMBO J       Date:  2015-03-27       Impact factor: 11.598

2.  A novel ERCC6 splicing variant associated with a mild Cockayne syndrome phenotype.

Authors:  Jonathan M Swartz; Aysehan Akinci; Shayne F Andrew; Ahmet Siğirci; Joel N Hirschhorn; Ron G Rosenfeld; Andrew Dauber; Vivian Hwa
Journal:  Horm Res Paediatr       Date:  2014-11-01       Impact factor: 2.852

3.  The conserved Cockayne syndrome B-piggyBac fusion protein (CSB-PGBD3) affects DNA repair and induces both interferon-like and innate antiviral responses in CSB-null cells.

Authors:  Arnold D Bailey; Lucas T Gray; Thomas Pavelitz; John C Newman; Katsuyoshi Horibata; Kiyoji Tanaka; Alan M Weiner
Journal:  DNA Repair (Amst)       Date:  2012-04-06

4.  Blinded by the UV light: how the focus on transcription-coupled NER has distracted from understanding the mechanisms of Cockayne syndrome neurologic disease.

Authors:  P J Brooks
Journal:  DNA Repair (Amst)       Date:  2013-05-16

Review 5.  Do all of the neurologic diseases in patients with DNA repair gene mutations result from the accumulation of DNA damage?

Authors:  P J Brooks; Tsu-Fan Cheng; Lori Cooper
Journal:  DNA Repair (Amst)       Date:  2008-03-12

6.  A UV-sensitive syndrome patient with a specific CSA mutation reveals separable roles for CSA in response to UV and oxidative DNA damage.

Authors:  Tiziana Nardo; Roberta Oneda; Graciela Spivak; Bruno Vaz; Laurent Mortier; Pierre Thomas; Donata Orioli; Vincent Laugel; Anne Stary; Philip C Hanawalt; Alain Sarasin; Miria Stefanini
Journal:  Proc Natl Acad Sci U S A       Date:  2009-03-27       Impact factor: 11.205

Review 7.  What role (if any) does the highly conserved CSB-PGBD3 fusion protein play in Cockayne syndrome?

Authors:  Alan M Weiner; Lucas T Gray
Journal:  Mech Ageing Dev       Date:  2013-01-28       Impact factor: 5.432

8.  Age-related neuronal degeneration: complementary roles of nucleotide excision repair and transcription-coupled repair in preventing neuropathology.

Authors:  Dick Jaarsma; Ingrid van der Pluijm; Monique C de Waard; Elize D Haasdijk; Renata Brandt; Marcel Vermeij; Yvonne Rijksen; Alex Maas; Harry van Steeg; Jan H J Hoeijmakers; Gijsbertus T J van der Horst
Journal:  PLoS Genet       Date:  2011-12-08       Impact factor: 5.917

9.  An abundant evolutionarily conserved CSB-PiggyBac fusion protein expressed in Cockayne syndrome.

Authors:  John C Newman; Arnold D Bailey; Hua-Ying Fan; Thomas Pavelitz; Alan M Weiner
Journal:  PLoS Genet       Date:  2008-03-21       Impact factor: 5.917

10.  Tracking the Cognitive, Social, and Neuroanatomical Profile in Early Neurodegeneration: Type III Cockayne Syndrome.

Authors:  Sandra Baez; Blas Couto; Eduar Herrera; Yamile Bocanegra; Natalia Trujillo-Orrego; Lucia Madrigal-Zapata; Juan Felipe Cardona; Facundo Manes; Agustin Ibanez; Andres Villegas
Journal:  Front Aging Neurosci       Date:  2013-11-26       Impact factor: 5.750
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