Neuronal modeling of alternating hemiplegia of childhood reveals transcriptional compensation and replicates a trigger-induced phenotype.

Snow, John P; Westlake, Grant; Klofas, Lindsay K; Jeon, Soyoun; Armstrong, Laura C; Swoboda, Kathryn J; George, Alfred L; Ess, Kevin C

Snow, John P; Westlake, Grant; Klofas, Lindsay K; Jeon, Soyoun; Armstrong, Laura C; Swoboda, Kathryn J; George, Alfred L; Ess, Kevin C.

Afiliação

Snow JP; Department of Cell and Developmental Biology, Vanderbilt University School of Medicine, Nashville, TN, USA; Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN, USA.
Westlake G; Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN, USA.
Klofas LK; Vanderbilt Brain Institute, Vanderbilt University, Nashville, TN, USA.
Jeon S; Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN, USA.
Armstrong LC; Department of Cell and Developmental Biology, Vanderbilt University School of Medicine, Nashville, TN, USA; Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN, USA.
Swoboda KJ; Center for Genomic Medicine, Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.
George AL; Department of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
Ess KC; Department of Cell and Developmental Biology, Vanderbilt University School of Medicine, Nashville, TN, USA; Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN, USA; Vanderbilt Brain Institute, Vanderbilt University, Nashville, TN, USA. Electronic address: kevin.ess@vumc.or

Neurobiol Dis ; 141: 104881, 2020 07.

Article em En | MEDLINE | ID: mdl-32348881

Assuntos

Hemiplegia/metabolismo; Neurônios/metabolismo; ATPase Trocadora de Sódio-Potássio/genética; ATPase Trocadora de Sódio-Potássio/metabolismo; Diferenciação Celular; Células Cultivadas; Córtex Cerebral/metabolismo; Feminino; Humanos; Células-Tronco Pluripotentes Induzidas/metabolismo; Células-Tronco Pluripotentes Induzidas/fisiologia; Mutação de Sentido Incorreto; Fenótipo; RNA Mensageiro/metabolismo

Palavras-chave

ATP1A3; Disease modeling; Flunarizine; Induced pluripotent stem cells; Neurodevelopment; Neuronal differentiation

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: ATPase Trocadora de Sódio-Potássio / Hemiplegia / Neurônios Tipo de estudo: Prognostic_studies Limite: Female / Humans Idioma: En Revista: Neurobiol Dis Ano de publicação: 2020 Tipo de documento: Article

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