Therapeutic NOTCH3 cysteine correction in CADASIL using exon skipping: in vitro proof of concept.

Rutten, Julie W; Dauwerse, Hans G; Peters, Dorien J M; Goldfarb, Andrew; Venselaar, Hanka; Haffner, Christof; van Ommen, Gert-Jan B; Aartsma-Rus, Annemieke M; Lesnik Oberstein, Saskia A J

Rutten, Julie W; Dauwerse, Hans G; Peters, Dorien J M; Goldfarb, Andrew; Venselaar, Hanka; Haffner, Christof; van Ommen, Gert-Jan B; Aartsma-Rus, Annemieke M; Lesnik Oberstein, Saskia A J.

Afiliação

Rutten JW; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Dauwerse HG; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Peters DJ; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Goldfarb A; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Venselaar H; NCMLS, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.
Haffner C; Intitute for Stroke and Dementia Research, Klinikum Der Universität München, Ludwig-Maximilians-University, Munich, Germany.
van Ommen GJ; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Aartsma-Rus AM; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Lesnik Oberstein SA; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands lesnik@lumc.nl.

Brain ; 139(Pt 4): 1123-35, 2016 Apr.

Article em En | MEDLINE | ID: mdl-26912635

Assuntos

CADASIL/genética; Cisteína/genética; Éxons/genética; Receptores Notch/genética; Sequência de Aminoácidos; CADASIL/diagnóstico; Cisteína/química; Terapia Genética/tendências; Células HEK293; Humanos; Dados de Sequência Molecular; Músculo Liso Vascular/fisiologia; Técnicas de Cultura de Órgãos; Estrutura Secundária de Proteína; Receptor Notch3; Receptores Notch/química

Palavras-chave

CADASIL; NOTCH3; cysteines; exon skipping; therapy

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Éxons / Cisteína / CADASIL / Receptores Notch Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2016 Tipo de documento: Article

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