Rapid in vitro quantification of TDP-43 and FUS mislocalisation for screening of gene variants implicated in frontotemporal dementia and amyotrophic lateral sclerosis.

Oyston, Lisa J; Ubiparipovic, Stephanie; Fitzpatrick, Lauren; Hallupp, Marianne; Boccanfuso, Lauren M; Kwok, John B; Dobson-Stone, Carol

Oyston, Lisa J; Ubiparipovic, Stephanie; Fitzpatrick, Lauren; Hallupp, Marianne; Boccanfuso, Lauren M; Kwok, John B; Dobson-Stone, Carol.

Afiliación

Oyston LJ; Brain and Mind Centre and School of Medical Sciences, Faculty of Medicine and Health, The University of Sydney, Camperdown, NSW, 2006, Australia.
Ubiparipovic S; Brain and Mind Centre and School of Medical Sciences, Faculty of Medicine and Health, The University of Sydney, Camperdown, NSW, 2006, Australia.
Fitzpatrick L; Garvan Institute of Medical Research, Darlinghurst, NSW, 2010, Australia.
Hallupp M; Brain and Mind Centre and School of Medical Sciences, Faculty of Medicine and Health, The University of Sydney, Camperdown, NSW, 2006, Australia.
Boccanfuso LM; Brain and Mind Centre and School of Medical Sciences, Faculty of Medicine and Health, The University of Sydney, Camperdown, NSW, 2006, Australia.
Kwok JB; Brain and Mind Centre and School of Medical Sciences, Faculty of Medicine and Health, The University of Sydney, Camperdown, NSW, 2006, Australia.
Dobson-Stone C; Brain and Mind Centre and School of Medical Sciences, Faculty of Medicine and Health, The University of Sydney, Camperdown, NSW, 2006, Australia.

Sci Rep ; 11(1): 14881, 2021 07 21.

Article en En | MEDLINE | ID: mdl-34290285

Asunto(s)

Esclerosis Amiotrófica Lateral/genética; Proteínas de Unión al ADN/genética; Proteínas de Unión al ADN/metabolismo; Demencia Frontotemporal/genética; Pruebas Genéticas/métodos; Mutación/genética; Proteína FUS de Unión a ARN/genética; Proteína FUS de Unión a ARN/metabolismo; Animales; Línea Celular; Citoplasma/genética; Citoplasma/metabolismo; Enzima Desubiquitinante CYLD/genética; Humanos; Neuronas/citología; Neuronas/metabolismo; Estaurosporina/genética

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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Pruebas Genéticas / Proteína FUS de Unión a ARN / Proteínas de Unión al ADN / Demencia Frontotemporal / Esclerosis Amiotrófica Lateral / Mutación Tipo de estudio: Diagnostic_studies / Prognostic_studies / Screening_studies Idioma: En Revista: Sci Rep Año: 2021 Tipo del documento: Article

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