Molecular and cellular basis of hyperassembly and protein aggregation driven by a rare pathogenic mutation in DDX3X

Current studies estimate that 1–3% of females with unexplained intellectual disability (ID) present de novo splice site, nonsense, frameshift, or missense mutations in the DDX3X protein (DEAD-Box Helicase 3 X-Linked). However, the cellular and molecular mechanisms by which DDX3X mutations impair bra...

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Detalles Bibliográficos
Autores principales: de Castro Fonseca, Matheus, de Oliveira, Juliana Ferreira, Araujo, Bruno Henrique Silva, Canateli, Camila, do Prado, Paula Favoretti Vital, Amorim Neto, Dionísio Pedro, Bosque, Beatriz Pelegrini, Rodrigues, Paulla Vieira, de Godoy, João Vitor Pereira, Tostes, Katiane, Filho, Helder Veras Ribeiro, Nascimento, Andrey Fabricio Ziem, Saito, Angela, Tonoli, Celisa Caldana Costa, Batista, Fernanda Aparecida Heleno, de Oliveira, Paulo Sergio Lopes, Figueira, Ana Carolina, Souza da Costa, Silvia, Krepischi, Ana Cristina Victorino, Rosenberg, Carla, Westfahl, Harry, da Silva, Antônio José Roque, Franchini, Kleber Gomes
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8335631/
https://www.ncbi.nlm.nih.gov/pubmed/34381968
http://dx.doi.org/10.1016/j.isci.2021.102841

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