Mutation in MRPS34 compromises protein synthesis and causes mitochondrial dysfunction.

Richman, Tara R; Ermer, Judith A; Davies, Stefan M K; Perks, Kara L; Viola, Helena M; Shearwood, Anne-Marie J; Hool, Livia C; Rackham, Oliver; Filipovska, Aleksandra

Richman, Tara R; Ermer, Judith A; Davies, Stefan M K; Perks, Kara L; Viola, Helena M; Shearwood, Anne-Marie J; Hool, Livia C; Rackham, Oliver; Filipovska, Aleksandra.

Afiliação

Richman TR; Harry Perkins Institute of Medical Research, Centre for Medical Research, QEII Medical Centre, The University of Western Australia, Nedlands, Western Australia, Australia.
Ermer JA; Harry Perkins Institute of Medical Research, Centre for Medical Research, QEII Medical Centre, The University of Western Australia, Nedlands, Western Australia, Australia.
Davies SM; Harry Perkins Institute of Medical Research, Centre for Medical Research, QEII Medical Centre, The University of Western Australia, Nedlands, Western Australia, Australia.
Perks KL; Harry Perkins Institute of Medical Research, Centre for Medical Research, QEII Medical Centre, The University of Western Australia, Nedlands, Western Australia, Australia.
Viola HM; School of Anatomy, Physiology and Human Biology, The University of Western Australia, Crawley, Western Australia, Australia; Victor Chang Cardiac Research Institute, Darlinghurst, New South Wales, Australia.
Shearwood AM; Harry Perkins Institute of Medical Research, Centre for Medical Research, QEII Medical Centre, The University of Western Australia, Nedlands, Western Australia, Australia.
Hool LC; School of Anatomy, Physiology and Human Biology, The University of Western Australia, Crawley, Western Australia, Australia; Victor Chang Cardiac Research Institute, Darlinghurst, New South Wales, Australia.
Rackham O; Harry Perkins Institute of Medical Research, Centre for Medical Research, QEII Medical Centre, The University of Western Australia, Nedlands, Western Australia, Australia; School of Chemistry and Biochemistry, The University of Western Australia, Crawley, Western Australia, Australia.
Filipovska A; Harry Perkins Institute of Medical Research, Centre for Medical Research, QEII Medical Centre, The University of Western Australia, Nedlands, Western Australia, Australia; School of Chemistry and Biochemistry, The University of Western Australia, Crawley, Western Australia, Australia.

PLoS Genet ; 11(3): e1005089, 2015 Mar.

Article em En | MEDLINE | ID: mdl-25816300

Assuntos

Cardiopatias Congênitas/genética; Mitocôndrias/genética; Proteínas Mitocondriais/genética; Ribossomos Mitocondriais/metabolismo; Proteínas Ribossômicas/biossíntese; Animais; DNA Mitocondrial/genética; Metabolismo Energético; Cardiopatias Congênitas/metabolismo; Cardiopatias Congênitas/patologia; Humanos; Hepatopatias/genética; Hepatopatias/metabolismo; Camundongos; Mitocôndrias/metabolismo; Mitocôndrias/patologia; Ribossomos Mitocondriais/patologia; Mutação; RNA Ribossômico/genética; Proteínas Ribossômicas/genética; Saccharomyces cerevisiae/genética

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas Ribossômicas / Proteínas Mitocondriais / Ribossomos Mitocondriais / Cardiopatias Congênitas / Mitocôndrias Tipo de estudo: Etiology_studies Limite: Animals / Humans Idioma: En Revista: PLoS Genet Assunto da revista: GENETICA Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Austrália

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