Literature DB >> 15719174

The novel human gene aprataxin is directly involved in DNA single-strand-break repair.

P Mosesso1, M Piane, F Palitti, G Pepe, S Penna, L Chessa.   

Abstract

The cells of an ataxia-oculomotor apraxia type 1 (AOA1) patient, homozygous for a new aprataxin mutation (T739C), were treated with camptothecin, an inhibitor of DNA topoisomerase I which induces DNA single-strand breaks. DNA damage was evaluated by cytogenetic analysis of chromosomal aberrations. The results obtained showed marked and dose-related increases in induced chromosomal aberrations in the patient and her heterozygous mother compared to the intrafamilial wild-type control. The alkaline comet assay confirmed this pattern. Moreover, the AOA1 cells did not show hypersensitivity to ionizing radiation, i.e. X-rays. These findings clearly indicate the direct involvement of aprataxin in the DNA single-strand-break repair machinery.

Entities:  

Mesh：

Substances：

Year:  2005        PMID： 15719174     DOI： 10.1007/s00018-004-4441-0

Source DB:  PubMed          Journal:  Cell Mol Life Sci        ISSN： 1420-682X            Impact factor:   9.261


  27 in total

1.  The incidence of phrenic nerve injury during pulmonary vein isolation using the second-generation 28 mm cryoballoon.

Authors:  Andreas Metzner; Peter Rausch; Christine Lemes; Bruno Reissmann; Alexander Bardyszewski; Roland Tilz; Andreas Rillig; Shibu Mathew; Sebastian Deiss; Masashi Kamioka; Tobias Toennis; Tina Lin; Feifan Ouyang; Karl-Heinz Kuck; Erik Wissner
Journal:  J Cardiovasc Electrophysiol       Date:  2014-01-30

2.  2014 AHA/ACC/HRS guideline for the management of patients with atrial fibrillation: a report of the American College of Cardiology/American Heart Association Task Force on practice guidelines and the Heart Rhythm Society.

Authors:  Craig T January; L Samuel Wann; Joseph S Alpert; Hugh Calkins; Joaquin E Cigarroa; Joseph C Cleveland; Jamie B Conti; Patrick T Ellinor; Michael D Ezekowitz; Michael E Field; Katherine T Murray; Ralph L Sacco; William G Stevenson; Patrick J Tchou; Cynthia M Tracy; Clyde W Yancy
Journal:  Circulation       Date:  2014-03-28       Impact factor: 29.690

3.  Safety and efficacy of a second-generation cryoballoon in the ablation of paroxysmal atrial fibrillation.

Authors:  Raphaël P Martins; David Hamon; Olivier Césari; Albin Behaghel; Nathalie Behar; Jean-Marc Sellal; Jean-Claude Daubert; Philippe Mabo; Dominique Pavin
Journal:  Heart Rhythm       Date:  2014-01-01       Impact factor: 6.343

4.  Cryoballoon ablation of paroxysmal atrial fibrillation: 5-year outcome after single procedure and predictors of success.

Authors:  Thomas Neumann; Maciej Wójcik; Alexander Berkowitsch; Damir Erkapic; Sergey Zaltsberg; Harald Greiss; Dimitri Pajitnev; Stefan Lehinant; Jörn Schmitt; Christian W Hamm; Heinz F Pitschner; Malte Kuniss
Journal:  Europace       Date:  2013-02-17       Impact factor: 5.214

5.  Safety and efficacy outcomes in patients undergoing pulmonary vein isolation with second-generation cryoballoon†.

Authors:  Kudret Aytemir; Kadri Murat Gurses; Muhammed Ulvi Yalcin; Duygu Kocyigit; Muhammet Dural; Banu Evranos; Hikmet Yorgun; Ahmet Hakan Ates; Mehmet Levent Sahiner; Ergun Baris Kaya; Mehmet Ali Oto
Journal:  Europace       Date:  2014-11-05       Impact factor: 5.214

6.  Two versus one repeat freeze-thaw cycle(s) after cryoballoon pulmonary vein isolation: the alster extra pilot study.

Authors:  Kyoung Ryul Julian Chun; Alexander Fürnkranz; Ilka Köster; Andreas Metzner; Tobias Tönnis; Peter Wohlmuth; Erik Wissner; Boris Schmidt; Feifan Ouyang; Karl Heinz Kuck
Journal:  J Cardiovasc Electrophysiol       Date:  2012-04-04

7.  Phrenic nerve paralysis during cryoballoon ablation for atrial fibrillation: a comparison between the first- and second-generation balloon.

Authors:  Ruben Casado-Arroyo; Gian-Battista Chierchia; Giulio Conte; Moisés Levinstein; Juan Sieira; Moises Rodriguez-Mañero; Giacomo di Giovanni; Yannis Baltogiannis; Kristel Wauters; Carlo de Asmundis; Andrea Sarkozy; Pedro Brugada
Journal:  Heart Rhythm       Date:  2013-07-24       Impact factor: 6.343

8.  Improved procedural efficacy of pulmonary vein isolation using the novel second-generation cryoballoon.

Authors:  Alexander Fürnkranz; Stefano Bordignon; Boris Schmidt; Melanie Gunawardene; Britta Schulte-Hahn; Verena Urban; Frank Bode; Bernd Nowak; Julian K R Chun
Journal:  J Cardiovasc Electrophysiol       Date:  2013-02-11

9.  Rotational Angiography Based Three-Dimensional Left Atrial Reconstruction: A New Approach for Transseptal Puncture.

Authors:  Buelent Koektuerk; Hikmet Yorgun; Oezlem Koektuerk; Cem H Turan; Eduard Gorr; Marc Horlitz; Ramazan G Turan
Journal:  Cardiovasc Ther       Date:  2016-02       Impact factor: 3.023

10.  The 'single big cryoballoon' technique for acute pulmonary vein isolation in patients with paroxysmal atrial fibrillation: a prospective observational single centre study.

Authors:  Kyoung-Ryul Julian Chun; Boris Schmidt; Andreas Metzner; Roland Tilz; Thomas Zerm; Ilka Köster; Alexander Fürnkranz; Buelent Koektuerk; Melanie Konstantinidou; Matthias Antz; Feifan Ouyang; Karl Heinz Kuck
Journal:  Eur Heart J       Date:  2008-12-24       Impact factor: 29.983
View more
  36 in total

Review 1.  Repair of topoisomerase I-mediated DNA damage.

Authors:  Yves Pommier; Juana M Barcelo; V Ashutosh Rao; Olivier Sordet; Andrew G Jobson; Laurent Thibaut; Ze-Hong Miao; Jennifer A Seiler; Hongliang Zhang; Christophe Marchand; Keli Agama; John L Nitiss; Christophe Redon
Journal:  Prog Nucleic Acid Res Mol Biol       Date:  2006

Review 2.  Ataxia.

Authors:  Umar Akbar; Tetsuo Ashizawa
Journal:  Neurol Clin       Date:  2015-02       Impact factor: 3.806

Review 3.  Molecular underpinnings of Aprataxin RNA/DNA deadenylase function and dysfunction in neurological disease.

Authors:  Matthew J Schellenberg; Percy P Tumbale; R Scott Williams
Journal:  Prog Biophys Mol Biol       Date:  2015-01-29       Impact factor: 3.667

4.  Lack of aprataxin impairs mitochondrial functions via downregulation of the APE1/NRF1/NRF2 pathway.

Authors:  Beatriz Garcia-Diaz; Emanuele Barca; Andrea Balreira; Luis C Lopez; Saba Tadesse; Sindhu Krishna; Ali Naini; Caterina Mariotti; Barbara Castellotti; Catarina M Quinzii
Journal:  Hum Mol Genet       Date:  2015-05-14       Impact factor: 6.150

Review 5.  Recognition and repair of chemically heterogeneous structures at DNA ends.

Authors:  Sara N Andres; Matthew J Schellenberg; Bret D Wallace; Percy Tumbale; R Scott Williams
Journal:  Environ Mol Mutagen       Date:  2014-08-11       Impact factor: 3.216

Review 6.  Molecular Signaling in Response to Charged Particle Exposures and its Importance in Particle Therapy.

Authors:  Christine E Hellweg; Arif Ali Chishti; Sebastian Diegeler; Luis F Spitta; Bernd Henschenmacher; Christa Baumstark-Khan
Journal:  Int J Part Ther       Date:  2018-09-21

Review 7.  Coordination of DNA single strand break repair.

Authors:  Rachel Abbotts; David M Wilson
Journal:  Free Radic Biol Med       Date:  2016-11-24       Impact factor: 7.376

8.  Role of polymerase β in complementing aprataxin deficiency during abasic-site base excision repair.

Authors:  Melike Cağlayan; Vinod K Batra; Akira Sassa; Rajendra Prasad; Samuel H Wilson
Journal:  Nat Struct Mol Biol       Date:  2014-04-28       Impact factor: 15.369

9.  Absence of aprataxin gene mutations in a Greek cohort with sporadic early onset ataxia and normal GAA triplets in frataxin gene.

Authors:  C Daiou; K Christodoulou; G Xiromerisiou; M Panas; E Dardiotis; A Kladi; M Speletas; G Ntaios; A Papadimitriou; A Germenis; Georgios M Hadjigeorgiou
Journal:  Neurol Sci       Date:  2009-12-02       Impact factor: 3.307

10.  CK2 phosphorylation-dependent interaction between aprataxin and MDC1 in the DNA damage response.

Authors:  Olivier J Becherel; Burkhard Jakob; Amy L Cherry; Nuri Gueven; Markus Fusser; Amanda W Kijas; Cheng Peng; Sachin Katyal; Peter J McKinnon; Junjie Chen; Bernd Epe; Stephen J Smerdon; Gisela Taucher-Scholz; Martin F Lavin
Journal:  Nucleic Acids Res       Date:  2009-12-14       Impact factor: 16.971
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.