RRM adjacent TARDBP mutations disrupt RNA binding and enhance TDP-43 proteinopathy.

Chen, Han-Jou; Topp, Simon D; Hui, Ho Sang; Zacco, Elsa; Katarya, Malvika; McLoughlin, Conor; King, Andrew; Smith, Bradley N; Troakes, Claire; Pastore, Annalisa; Shaw, Christopher E

Chen, Han-Jou; Topp, Simon D; Hui, Ho Sang; Zacco, Elsa; Katarya, Malvika; McLoughlin, Conor; King, Andrew; Smith, Bradley N; Troakes, Claire; Pastore, Annalisa; Shaw, Christopher E.

Afiliação

Chen HJ; United Kingdom Dementia Research Institute Centre, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, 125 Coldharbour Lane, Camberwell, SE5 9NU, London, UK.
Topp SD; York Biomedical Research Institute, Department of Biology, University of York, Wentworth Way, YO10 5DD, York, UK.
Hui HS; United Kingdom Dementia Research Institute Centre, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, 125 Coldharbour Lane, Camberwell, SE5 9NU, London, UK.
Zacco E; United Kingdom Dementia Research Institute Centre, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, 125 Coldharbour Lane, Camberwell, SE5 9NU, London, UK.
Katarya M; United Kingdom Dementia Research Institute Centre, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, 125 Coldharbour Lane, Camberwell, SE5 9NU, London, UK.
McLoughlin C; United Kingdom Dementia Research Institute Centre, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, 125 Coldharbour Lane, Camberwell, SE5 9NU, London, UK.
King A; United Kingdom Dementia Research Institute Centre, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, 125 Coldharbour Lane, Camberwell, SE5 9NU, London, UK.
Smith BN; MRC London Neurodegenerative Diseases Brain Bank, De Crespigny Park, SE5 8AF, London, UK.
Troakes C; United Kingdom Dementia Research Institute Centre, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, 125 Coldharbour Lane, Camberwell, SE5 9NU, London, UK.
Pastore A; MRC London Neurodegenerative Diseases Brain Bank, De Crespigny Park, SE5 8AF, London, UK.
Shaw CE; United Kingdom Dementia Research Institute Centre, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, 125 Coldharbour Lane, Camberwell, SE5 9NU, London, UK.

Brain ; 142(12): 3753-3770, 2019 12 01.

Article em En | MEDLINE | ID: mdl-31605140

Assuntos

Proteínas de Ligação a DNA/genética; Mutação; Agregação Patológica de Proteínas/genética; Proteínas de Ligação a RNA/genética; Medula Espinal/metabolismo; Proteinopatias TDP-43/genética; Adulto; Proteínas de Ligação a DNA/metabolismo; Humanos; Masculino; Neuroglia/metabolismo; Neurônios/metabolismo; Fosforilação; Agregação Patológica de Proteínas/metabolismo; Agregação Patológica de Proteínas/patologia; Proteínas de Ligação a RNA/metabolismo; Medula Espinal/patologia; Proteinopatias TDP-43/metabolismo; Proteinopatias TDP-43/patologia

Palavras-chave

ALS; RNA binding protein; TDP-43; neurodegeneration; protein aggregation

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Medula Espinal / Proteínas de Ligação a RNA / Proteínas de Ligação a DNA / Proteinopatias TDP-43 / Agregação Patológica de Proteínas / Mutação Tipo de estudo: Prognostic_studies Limite: Adult / Humans / Male Idioma: En Ano de publicação: 2019 Tipo de documento: Article

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