Timothy syndrome iPSC modeling.
Mol Cell Neurosci
; 107: 103529, 2020 09.
Article
em En
| MEDLINE
| ID: mdl-32629111
ABSTRACT
L-type voltage-gated calcium channels play an essential role in various physiological systems including neuronal excitation and any mutation or dysfunction in the channel has significant impact on human brain function resulting in psychiatric diseases. Particular gain-of-function mutations in CACNA1C encoding CaV1.2 have been associated with Timothy Syndrome, a devastating disease with a multi-organ phenotype. Efforts to understand the underlying pathophysiology and find therapeutic strategy have been spurred recently with the advances in stem cell technology, in particular those arising from patient-derived sources. In this review, we report on the recent advances in Timothy Syndrome research and on the methods used to study this disease.
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Base de dados:
MEDLINE
Assunto principal:
Transtorno Autístico
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Síndrome do QT Longo
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Sindactilia
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Canais de Cálcio Tipo L
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Células-Tronco Pluripotentes Induzidas
Idioma:
En
Ano de publicação:
2020
Tipo de documento:
Article