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

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

Summary: 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 i...

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Bibliographic Details
Main Authors: Matheus de Castro Fonseca, Juliana Ferreira de Oliveira, Bruno Henrique Silva Araujo, Camila Canateli, Paula Favoretti Vital do Prado, Dionísio Pedro Amorim Neto, Beatriz Pelegrini Bosque, Paulla Vieira Rodrigues, João Vitor Pereira de Godoy, Katiane Tostes, Helder Veras Ribeiro Filho, Andrey Fabricio Ziem Nascimento, Angela Saito, Celisa Caldana Costa Tonoli, Fernanda Aparecida Heleno Batista, Paulo Sergio Lopes de Oliveira, Ana Carolina Figueira, Silvia Souza da Costa, Ana Cristina Victorino Krepischi, Carla Rosenberg, Harry Westfahl, Jr., Antônio José Roque da Silva, Kleber Gomes Franchini
Format: Article
Language:English
Published: Elsevier 2021-08-01
Series:iScience
Subjects:
Molecular biology
Neuroscience
Biophysics
Online Access:http://www.sciencedirect.com/science/article/pii/S2589004221008099

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http://www.sciencedirect.com/science/article/pii/S2589004221008099

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