GGGGCC repeat expansion in C9orf72 compromises nucleocytoplasmic transport.

Freibaum, Brian D; Lu, Yubing; Lopez-Gonzalez, Rodrigo; Kim, Nam Chul; Almeida, Sandra; Lee, Kyung-Ha; Badders, Nisha; Valentine, Marc; Miller, Bruce L; Wong, Philip C; Petrucelli, Leonard; Kim, Hong Joo; Gao, Fen-Biao; Taylor, J Paul

Freibaum, Brian D; Lu, Yubing; Lopez-Gonzalez, Rodrigo; Kim, Nam Chul; Almeida, Sandra; Lee, Kyung-Ha; Badders, Nisha; Valentine, Marc; Miller, Bruce L; Wong, Philip C; Petrucelli, Leonard; Kim, Hong Joo; Gao, Fen-Biao; Taylor, J Paul.

Afiliación

Freibaum BD; Department of Cell and Molecular Biology, St Jude Children's Research Hospital, Memphis, Tennessee 38105, USA.
Lu Y; Department of Neurology, University of Massachusetts Medical School, Worcester, Massachusetts 01605, USA.
Lopez-Gonzalez R; Department of Neurology, University of Massachusetts Medical School, Worcester, Massachusetts 01605, USA.
Kim NC; Department of Cell and Molecular Biology, St Jude Children's Research Hospital, Memphis, Tennessee 38105, USA.
Almeida S; Department of Neurology, University of Massachusetts Medical School, Worcester, Massachusetts 01605, USA.
Lee KH; Department of Cell and Molecular Biology, St Jude Children's Research Hospital, Memphis, Tennessee 38105, USA.
Badders N; Department of Cell and Molecular Biology, St Jude Children's Research Hospital, Memphis, Tennessee 38105, USA.
Valentine M; Department of Cell and Molecular Biology, St Jude Children's Research Hospital, Memphis, Tennessee 38105, USA.
Miller BL; Memory and Aging Center, Department of Neurology, University of California San Francisco, San Francisco, California 94158, USA.
Wong PC; Department of Pathology, The Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA.
Petrucelli L; Department of Neuroscience, Mayo Clinic Florida, Jacksonville, Florida 32224, USA.
Kim HJ; Department of Cell and Molecular Biology, St Jude Children's Research Hospital, Memphis, Tennessee 38105, USA.
Gao FB; Department of Neurology, University of Massachusetts Medical School, Worcester, Massachusetts 01605, USA.
Taylor JP; Howard Hughes Medical Institute, Department of Cell and Molecular Biology, St Jude Children's Research Hospital, Memphis, Tennessee 38105, USA.

Nature ; 525(7567): 129-33, 2015 Sep 03.

Article en En | MEDLINE | ID: mdl-26308899

Asunto(s)

Transporte Activo de Núcleo Celular/genética; Expansión de las Repeticiones de ADN/genética; Drosophila melanogaster/citología; Drosophila melanogaster/metabolismo; Sistemas de Lectura Abierta/genética; Proteínas/genética; Transporte de ARN/genética; Esclerosis Amiotrófica Lateral/genética; Esclerosis Amiotrófica Lateral/patología; Animales; Animales Modificados Genéticamente; Proteína C9orf72; Drosophila melanogaster/genética; Ojo/metabolismo; Femenino; Demencia Frontotemporal/genética; Demencia Frontotemporal/patología; Células HeLa; Humanos; Células Madre Pluripotentes Inducidas/citología; Células Madre Pluripotentes Inducidas/metabolismo; Masculino; Músculos/citología; Músculos/metabolismo; Neuronas/citología; Neuronas/metabolismo; Poro Nuclear/genética; Poro Nuclear/metabolismo; Poro Nuclear/patología; Fenotipo; Biosíntesis de Proteínas; ARN/genética; ARN/metabolismo; Glándulas Salivales/citología; Glándulas Salivales/metabolismo; Glándulas Salivales/patología

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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Proteínas / Sistemas de Lectura Abierta / Transporte Activo de Núcleo Celular / Transporte de ARN / Expansión de las Repeticiones de ADN / Drosophila melanogaster Tipo de estudio: Prognostic_studies Límite: Animals / Female / Humans / Male Idioma: En Revista: Nature Año: 2015 Tipo del documento: Article País de afiliación: Estados Unidos

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