Integrated genome and transcriptome analyses reveal the mechanism of genome instability in ataxia with oculomotor apraxia 2.

Kanagaraj, Radhakrishnan; Mitter, Richard; Kantidakis, Theodoros; Edwards, Matthew M; Benitez, Anaid; Chakravarty, Probir; Fu, Beiyuan; Becherel, Olivier; Yang, Fengtang; Lavin, Martin F; Koren, Amnon; Stewart, Aengus; West, Stephen C

Kanagaraj, Radhakrishnan; Mitter, Richard; Kantidakis, Theodoros; Edwards, Matthew M; Benitez, Anaid; Chakravarty, Probir; Fu, Beiyuan; Becherel, Olivier; Yang, Fengtang; Lavin, Martin F; Koren, Amnon; Stewart, Aengus; West, Stephen C.

Afiliação

Kanagaraj R; DNA Recombination and Repair Laboratory, The Francis Crick Institute, London NW1 1AT, United Kingdom; drrkanagaraj@gmail.com stephen.west@crick.ac.uk.
Mitter R; Bioinformatics and Biostatistics, The Francis Crick Institute, London NW1 1AT, United Kingdom.
Kantidakis T; Aston Medical School, Aston University, Birmingham B4 7ET, United Kingdom.
Edwards MM; Department of Molecular Biology and Genetics, Cornell University, Ithaca, NY 14853.
Benitez A; DNA Recombination and Repair Laboratory, The Francis Crick Institute, London NW1 1AT, United Kingdom.
Chakravarty P; Bioinformatics and Biostatistics, The Francis Crick Institute, London NW1 1AT, United Kingdom.
Fu B; Wellcome Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, United Kingdom.
Becherel O; Center for Clinical Research, University of Queensland, Herston, QLD 4029, Australia.
Yang F; Wellcome Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, United Kingdom.
Lavin MF; Center for Clinical Research, University of Queensland, Herston, QLD 4029, Australia.
Koren A; Department of Molecular Biology and Genetics, Cornell University, Ithaca, NY 14853.
Stewart A; Bioinformatics and Biostatistics, The Francis Crick Institute, London NW1 1AT, United Kingdom.
West SC; DNA Recombination and Repair Laboratory, The Francis Crick Institute, London NW1 1AT, United Kingdom; drrkanagaraj@gmail.com stephen.west@crick.ac.uk.

Proc Natl Acad Sci U S A ; 119(4)2022 01 25.

Article em En | MEDLINE | ID: mdl-35042798

Assuntos

Instabilidade Cromossômica/genética; DNA Helicases/metabolismo; Enzimas Multifuncionais/metabolismo; RNA Helicases/metabolismo; Ataxias Espinocerebelares/congênito; Animais; Apraxias/genética; Ataxia/genética; Linhagem Celular; Ataxia Cerebelar/genética; DNA Helicases/genética; Reparo do DNA/genética; Perfilação da Expressão Gênica/métodos; Instabilidade Genômica/genética; Genômica/métodos; Humanos; Camundongos; Células-Tronco Embrionárias Murinas; Enzimas Multifuncionais/genética; Mutação/genética; Doenças Neurodegenerativas/genética; Cultura Primária de Células; Regiões Promotoras Genéticas/genética; RNA Helicases/genética; Ataxias Espinocerebelares/genética; Ataxias Espinocerebelares/fisiopatologia; Transcriptoma/genética

Palavras-chave

DNA repair senataxin; ataxia with oculomotor apraxia; transcription stress

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: DNA Helicases / RNA Helicases / Ataxias Espinocerebelares / Instabilidade Cromossômica / Enzimas Multifuncionais Limite: Animals / Humans Idioma: En Revista: Proc Natl Acad Sci U S A Ano de publicação: 2022 Tipo de documento: Article

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