An epilepsy-associated ACTL6B variant captures neuronal hyperexcitability in a human induced pluripotent stem cell model.

Ahn, Lucie Y; Coatti, Giuliana C; Liu, Jingyi; Gumus, Evren; Schaffer, Ashleigh E; Miranda, Helen C

Ahn, Lucie Y; Coatti, Giuliana C; Liu, Jingyi; Gumus, Evren; Schaffer, Ashleigh E; Miranda, Helen C.

Afiliación

Ahn LY; Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH, USA.
Coatti GC; Medical Scientist Training Program, Case Western Reserve University, Cleveland, OH, USA.
Liu J; Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH, USA.
Gumus E; Department of Pathology, Case Western Reserve University, Cleveland, OH, USA.
Schaffer AE; Department of Medical Genetics, Faculty of Medicine, Mugla Sitki Kocman University, Mugla, Turkey.
Miranda HC; Department of Medical Genetics, Faculty of Medicine, University of Harran, Sanliurfa, Turkey.

J Neurosci Res ; 99(1): 110-123, 2021 01.

Article en En | MEDLINE | ID: mdl-33141462

Asunto(s)

Actinas/genética; Proteínas Cromosómicas no Histona/genética; Proteínas de Unión al ADN/genética; Modelos Moleculares; Neuronas/fisiología; Espasmos Infantiles/genética; Actinas/química; Actinas/metabolismo; Diferenciación Celular/genética; Reprogramación Celular/genética; Proteínas Cromosómicas no Histona/química; Proteínas Cromosómicas no Histona/metabolismo; Proteínas de Unión al ADN/química; Proteínas de Unión al ADN/metabolismo; Humanos; Células Madre Pluripotentes Inducidas; Mutación; Estabilidad Proteica; Espasmos Infantiles/fisiopatología

Palabras clave

RRID:AB_10691311; RRID:AB_10954442; RRID:AB_11219471; RRID:AB_138404; RRID:AB_141778; RRID:AB_1642229; RRID:AB_2138153; RRID:AB_2210524; RRID:AB_2313773; RRID:AB_2534096; RRID:AB_2535792; RRID:AB_2535805; RRID:AB_2536381; RRID:AB_2536527; RRID:AB_2536821; RRID:AB_2565003; RRID:AB_2576217; RRID:AB_266547; RRID:AB_2819160; RRID:AB_2857952; RRID:AB_304558; RRID:AB_621847; RRID:Addgene_27077; RRID:Addgene_27078; RRID:Addgene_27080; RRID:Addgene_37624; RRID:SCR_002380; RRID:SCR_002798; RRID:SCR_013295; RRID:SCR_013715; RRID:SCR_016308; SC29312; chromatin assembly and disassembly; induced pluripotent stem cells; infantile epileptic encephalopathy

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Espasmos Infantiles / Proteínas Cromosómicas no Histona / Modelos Moleculares / Actinas / Proteínas de Unión al ADN / Neuronas Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Humans Idioma: En Revista: J Neurosci Res Año: 2021 Tipo del documento: Article País de afiliación: Estados Unidos

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