A novel fragile X syndrome mutation reveals a conserved role for the carboxy-terminus in FMRP localization and function.

Okray, Zeynep; de Esch, Celine E F; Van Esch, Hilde; Devriendt, Koen; Claeys, Annelies; Yan, Jiekun; Verbeeck, Jelle; Froyen, Guy; Willemsen, Rob; de Vrij, Femke M S; Hassan, Bassem A

Okray, Zeynep; de Esch, Celine E F; Van Esch, Hilde; Devriendt, Koen; Claeys, Annelies; Yan, Jiekun; Verbeeck, Jelle; Froyen, Guy; Willemsen, Rob; de Vrij, Femke M S; Hassan, Bassem A.

Afiliação

Okray Z; VIB Center for the Biology of Disease, VIB, Leuven, Belgium Center for Human Genetics, University of Leuven School of Medicine and University Hospitals Leuven, Leuven, Belgium Program in Molecular and Developmental Genetics, Doctoral School of Biomedical Sciences, University of Leuven, Leuven, Belgi
de Esch CE; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.
Van Esch H; Center for Human Genetics, University of Leuven School of Medicine and University Hospitals Leuven, Leuven, Belgium.
Devriendt K; Center for Human Genetics, University of Leuven School of Medicine and University Hospitals Leuven, Leuven, Belgium.
Claeys A; VIB Center for the Biology of Disease, VIB, Leuven, Belgium Center for Human Genetics, University of Leuven School of Medicine and University Hospitals Leuven, Leuven, Belgium.
Yan J; VIB Center for the Biology of Disease, VIB, Leuven, Belgium Center for Human Genetics, University of Leuven School of Medicine and University Hospitals Leuven, Leuven, Belgium.
Verbeeck J; VIB Center for the Biology of Disease, VIB, Leuven, Belgium Center for Human Genetics, University of Leuven School of Medicine and University Hospitals Leuven, Leuven, Belgium.
Froyen G; VIB Center for the Biology of Disease, VIB, Leuven, Belgium Center for Human Genetics, University of Leuven School of Medicine and University Hospitals Leuven, Leuven, Belgium.
Willemsen R; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.
de Vrij FM; Department of Psychiatry, Erasmus Medical Center, Rotterdam, The Netherlands.
Hassan BA; VIB Center for the Biology of Disease, VIB, Leuven, Belgium Center for Human Genetics, University of Leuven School of Medicine and University Hospitals Leuven, Leuven, Belgium Program in Molecular and Developmental Genetics, Doctoral School of Biomedical Sciences, University of Leuven, Leuven, Belgi

EMBO Mol Med ; 7(4): 423-37, 2015 Apr.

Article em En | MEDLINE | ID: mdl-25693964

Assuntos

Núcleo Celular; Proteína do X Frágil da Deficiência Intelectual; Síndrome do Cromossomo X Frágil; Mutação; Sinais de Localização Nuclear; Expansão das Repetições de Trinucleotídeos; Animais; Linhagem Celular Transformada; Linhagem Celular Tumoral; Núcleo Celular/genética; Núcleo Celular/metabolismo; Núcleo Celular/patologia; Drosophila melanogaster; Proteína do X Frágil da Deficiência Intelectual/genética; Proteína do X Frágil da Deficiência Intelectual/metabolismo; Síndrome do Cromossomo X Frágil/genética; Síndrome do Cromossomo X Frágil/metabolismo; Síndrome do Cromossomo X Frágil/patologia; Humanos; Masculino; Camundongos; Sinais de Localização Nuclear/genética; Sinais de Localização Nuclear/metabolismo; Estrutura Terciária de Proteína; Transporte Proteico/genética

Palavras-chave

Drosophila; axon guidance; fragile X syndrome; nuclear export; nucleolus

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Núcleo Celular / Sinais de Localização Nuclear / Expansão das Repetições de Trinucleotídeos / Proteína do X Frágil da Deficiência Intelectual / Síndrome do Cromossomo X Frágil / Mutação Limite: Animals / Humans / Male Idioma: En Revista: EMBO Mol Med Assunto da revista: BIOLOGIA MOLECULAR Ano de publicação: 2015 Tipo de documento: Article

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