Neuroprogenitor Cells From Patients With TBCK Encephalopathy Suggest Deregulation of Early Secretory Vesicle Transport

Biallelic pathogenic variants in TBCK cause encephaloneuropathy, infantile hypotonia with psychomotor retardation, and characteristic facies 3 (IHPRF3). The molecular mechanisms underlying its neuronal phenotype are largely unexplored. In this study, we reported two sisters, who harbored biallelic v...

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Detalles Bibliográficos
Autores principales: Moreira, Danielle de Paula, Suzuki, Angela May, Silva, André Luiz Teles e, Varella-Branco, Elisa, Meneghetti, Maria Cecília Zorél, Kobayashi, Gerson Shigeru, Fogo, Mariana, Ferrari, Merari de Fátima Ramires, Cardoso, Rafaela Regina, Lourenço, Naila Cristina Vilaça, Griesi-Oliveira, Karina, Zachi, Elaine Cristina, Bertola, Débora Romeo, Weinmann, Karina de Souza, de Lima, Marcelo Andrade, Nader, Helena Bonciani, Sertié, Andrea Laurato, Passos-Bueno, Maria Rita
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8793280/
https://www.ncbi.nlm.nih.gov/pubmed/35095425
http://dx.doi.org/10.3389/fncel.2021.803302

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8793280/
https://www.ncbi.nlm.nih.gov/pubmed/35095425
http://dx.doi.org/10.3389/fncel.2021.803302

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