DNA REPAIR A unifying mechanism in neurodegeneration

被引：45

作者：

Ross, Christopher A. ^{[1
,2
,3
,4
]}

Truant, Ray ^{[5
]}

机构：

[1] Johns Hopkins Univ, Sch Med, Dept Psychiat, Baltimore, MD 21287 USA

[2] Johns Hopkins Univ, Sch Med, Dept Neurol, Baltimore, MD 21287 USA

[3] Johns Hopkins Univ, Sch Med, Dept Neurosci, Baltimore, MD 21287 USA

[4] Johns Hopkins Univ, Sch Med, Dept Pharmacol, Baltimore, MD 21287 USA

[5] McMaster Univ, Dept Biochem & Biomed Sci, Hamilton, ON L8N 3Z5, Canada

来源：

NATURE | 2017年 / 541卷 / 7635期

关键词：

OXIDATION;

D O I：

10.1038/nature21107

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

Identification of a previously uncharacterized genetic disease highlights DNA repair as a shared mechanism in neurodegenerative disorders, and suggests potential therapeutic approaches to tackling them. See Letter p.87

引用

页码：34 / 35

页数：3

共 11 条

[1] In vivo aspects of protein folding and quality control [J].

Balchin, David ;

Hayer-Hartl, Manajit ;

Hartl, F. Ulrich .

SCIENCE, 2016, 353 (6294)

[2] DNA Repair Pathways Underlie a Common Genetic Mechanism Modulating Onset in Polyglutamine Diseases [J].

Bettencourt, Conceicao ;

Hensman-Moss, Davina ;

Flower, Michael ;

Wiethoff, Sarah ;

Brice, Alexis ;

Goizet, Cyril ;

Stevanin, Giovanni ;

Koutsis, Georgios ;

Karadima, Georgia ;

Panas, Marios ;

Yescas-Gomes, Petra ;

Esmeralda Garcia-Velazquez, Lizbeth ;

Elisa Alonso-Vilatela, Maria ;

Lima, Manuela ;

Raposo, Mafalda ;

Traynor, Bryan ;

Sweeney, Mary ;

Wood, Nicholas ;

Giunti, Paola ;

Durr, Alexandra ;

Holmans, Peter ;

Houlden, Henry ;

Tabrizi, Sarah J. ;

Jones, Lesley .

ANNALS OF NEUROLOGY, 2016, 79 (06) :983-990

[3] A functional deficiency of TERA/VCP/p97 contributes to impaired DNA repair in multiple polyglutamine diseases [J].

Fujita, Kyota ;

Nakamura, Yoko ;

Oka, Tsutomu ;

Ito, Hikaru ;

Tamura, Takuya ;

Tagawa, Kazuhiko ;

Sasabe, Toshikazu ;

Katsuta, Asuka ;

Motoki, Kazumi ;

Shiwaku, Hiroki ;

Sone, Masaki ;

Yoshida, Chisato ;

Katsuno, Masahisa ;

Eishi, Yoshinobu ;

Murata, Miho ;

Taylor, J. Paul ;

Wanker, Erich E. ;

Kono, Kazuteru ;

Tashiro, Satoshi ;

Sobue, Gen ;

La Spada, Albert R. ;

Okazawa, Hitoshi .

NATURE COMMUNICATIONS, 2013, 4

[4] XRCC1 mutation is associated with PARP1 hyperactivation and cerebellar ataxia [J].

Hoch, Nicolas C. ;

Hanzlikova, Hana ;

Rulten, Stuart L. ;

Tetreault, Martine ;

Komulainen, Emilia ;

Ju, Limei ;

Hornyak, Peter ;

Zeng, Zhihong ;

Gittens, William ;

Rey, Stephanie A. ;

Staras, Kevin ;

Mancini, Grazia M. S. ;

McKinnon, Peter J. ;

Wang, Zhao-Qi ;

Wagner, Justin D. ;

Yoon, Grace ;

Caldecott, Keith W. .

NATURE, 2017, 541 (7635) :87-+

[5]

Jiang B., 2016, MECH AGEING DEV

[6] Identification of Genetic Factors that Modify Clinical Onset of Huntington's Disease [J].

Lee, Jong-Min ;

Wheeler, Vanessa C. ;

Chao, Michael J. ;

Vonsattel, Jean Paul G. ;

Pinto, Ricardo Mouro ;

Lucente, Diane ;

Abu-Elneel, Kawther ;

Ramos, Eliana Marisa ;

Mysore, Jayalakshmi Srinidhi ;

Gillis, Tammy ;

MacDonald, Marcy E. ;

Gusella, James F. ;

Harold, Denise ;

Stone, Timothy C. ;

Escott-Price, Valentina ;

Han, Jun ;

Vedernikov, Alexey ;

Holmans, Peter ;

Jones, Lesley ;

Kwak, Seung ;

Mahmoudi, Mithra ;

Orth, Michael ;

Landwehrmeyer, G. Bernhard ;

Paulsen, Jane S. ;

Dorsey, E. Ray ;

Shoulson, Ira ;

Myers, Richard H. .

CELL, 2015, 162 (03) :516-526

[7] Increased DNA oxidation and decreased levels of repair products in Alzheimer's disease ventricular CSF [J].

Lovell, MA ;

Gabbita, SP ;

Markesbery, WR .

JOURNAL OF NEUROCHEMISTRY, 1999, 72 (02) :771-776

[8] Targeting ATM ameliorates mutant Huntingtin toxicity in cell and animal models of Huntington's disease [J].

Lu, Xiao-Hong ;

Mattis, Virginia B. ;

Wang, Nan ;

Al-Ramahi, Ismael ;

van den Berg, Nick ;

Fratantoni, Silvina A. ;

Waldvogel, Henry ;

Greiner, Erin ;

Osmand, Alex ;

Elzein, Karla ;

Xiao, Jingbo ;

Dijkstra, Sipke ;

de Pril, Remko ;

Vinters, Harry V. ;

Faull, Richard ;

Signer, Ethan ;

Kwak, Seung ;

Marugan, Juan J. ;

Botas, Juan ;

Fischer, David F. ;

Svendsen, Clive N. ;

Munoz-Sanjuan, Ignacio ;

Yang, X. William .

SCIENCE TRANSLATIONAL MEDICINE, 2014, 6 (268) :268ra178

[9]

Maiuri T., HUM MOL GEN IN PRESS

[10] DNA oxidation in Alzheimer's disease [J].

Markesbery, William R. ;

Lovell, Mark A. .

ANTIOXIDANTS & REDOX SIGNALING, 2006, 8 (11-12) :2039-2045

← 1 2 →