The ATM signaling network in development and disease
Stracker, Travis H. (Institut de Recerca Biomèdica de Lleida)
Roig, Ignasi (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí")
Knobel, Philip A. (Institut de Recerca Biomèdica)
Marjanović, Marko (Institut de Recerca Biomèdica)
Universitat Autònoma de Barcelona. Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia

Date:	2013
Abstract:	The DNA damage response (DDR) rapidly recognizes DNA lesions and initiates the appropriate cellular programs to maintain genome integrity. This includes the coordination of cell cycle checkpoints, transcription, translation, DNA repair, metabolism, and cell fate decisions, such as apoptosis or senescence (Jackson and Bartek, 2009). DNA double-strand breaks (DSBs) represent one of the most cytotoxic DNA lesions and defects in their metabolism underlie many human hereditary diseases characterized by genomic instability (Stracker and Petrini, 2011; McKinnon, 2012). Patients with hereditary defects in the DDR display defects in development, particularly affecting the central nervous system, the immune system and the germline, as well as aberrant metabolic regulation and cancer predisposition. Central to the DDR to DSBs is the ataxia-telangiectasia mutated (ATM) kinase, a master controller of signal transduction. Understanding how ATM signaling regulates various aspects of the DDR and its roles in vivo is critical for our understanding of human disease, its diagnosis and its treatment. This review will describe the general roles of ATM signaling and highlight some recent advances that have shed light on the diverse roles of ATM and related proteins in human disease.
Grants:	Ministerio de Ciencia e Innovación BFU2010-18965 Ministerio de Ciencia e Innovación SAF2009-10023
Note:	Altres ajuts: Marko Marjanović is supported by a Marie Curie Action (COFUND) within the European Union Seventh Framework Programme
Rights:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.
Language:	Anglès
Document:	Article ; recerca ; Versió publicada
Subject:	Aataxia-telangiectasia ; Nijmegen breakage syndrome ; AT like disease ; ATM ; Mre11 complex ; Apoptosis ; Senescence ; DNA repair
Published in:	Frontiers in genetics, Vol. 4 (March 2013) , art. 37, ISSN 1664-8021

DOI: 10.3389/fgene.2013.00037
PMID: 23532176

19 p, 1001.5 KB

The record appears in these collections:
Research literature > UAB research groups literature > Research Centres and Groups (research output) > Health sciences and biosciences > Institut de Biotecnologia i de Biomedicina (IBB)
Articles > Research articles
Articles > Published articles