Multi-parametric analysis of 57 SYNGAP1 variants reveal impacts on GTPase signaling, localization, and protein stability.

Meili, Fabian; Wei, William J; Sin, Wun-Chey; Meyers, Warren M; Dascalu, Iulia; Callaghan, Daniel B; Rogic, Sanja; Pavlidis, Paul; Haas, Kurt

Meili, Fabian; Wei, William J; Sin, Wun-Chey; Meyers, Warren M; Dascalu, Iulia; Callaghan, Daniel B; Rogic, Sanja; Pavlidis, Paul; Haas, Kurt.

Afiliação

Meili F; Djavad Mowafaghian Centre for Brain Health, University of British Columbia, Vancouver, BC V6T2B5, Canada.
Wei WJ; Department of Cellular and Physiological Sciences, University of British Columbia, Vancouver, BC V6T1Z3, Canada.
Sin WC; Djavad Mowafaghian Centre for Brain Health, University of British Columbia, Vancouver, BC V6T2B5, Canada.
Meyers WM; Djavad Mowafaghian Centre for Brain Health, University of British Columbia, Vancouver, BC V6T2B5, Canada.
Dascalu I; Department of Cellular and Physiological Sciences, University of British Columbia, Vancouver, BC V6T1Z3, Canada.
Callaghan DB; Department of Psychiatry, University of British Columbia, Vancouver, BC V6T2A1, Canada.
Rogic S; Department of Psychiatry, University of British Columbia, Vancouver, BC V6T2A1, Canada; Michael Smith Laboratories, University of British Columbia, Vancouver, BC V6T1Z4, Canada.
Pavlidis P; Djavad Mowafaghian Centre for Brain Health, University of British Columbia, Vancouver, BC V6T2B5, Canada; Department of Psychiatry, University of British Columbia, Vancouver, BC V6T2A1, Canada; Michael Smith Laboratories, University of British Columbia, Vancouver, BC V6T1Z4, Canada.
Haas K; Djavad Mowafaghian Centre for Brain Health, University of British Columbia, Vancouver, BC V6T2B5, Canada; Department of Cellular and Physiological Sciences, University of British Columbia, Vancouver, BC V6T1Z3, Canada. Electronic address: kurt.haas@ubc.ca.

Am J Hum Genet ; 108(1): 148-162, 2021 01 07.

Article em En | MEDLINE | ID: mdl-33308442

Assuntos

GTP Fosfo-Hidrolases/genética; Mutação/genética; Transdução de Sinais/genética; Proteínas Ativadoras de ras GTPase/genética; Transtorno do Espectro Autista/genética; Linhagem Celular; Epilepsia/genética; Células HEK293; Humanos; Deficiência Intelectual/genética; Transtornos do Neurodesenvolvimento/genética; Fenótipo; Estabilidade Proteica

Palavras-chave

ASD; ID; SYNGAP; epilepsy; functional variomics; missense mutations; schizophrenia

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Transdução de Sinais / Proteínas Ativadoras de ras GTPase / GTP Fosfo-Hidrolases / Mutação Idioma: En Ano de publicação: 2021 Tipo de documento: Article

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