Molecular and cellular basis of hyperassembly and protein aggregation driven by a rare pathogenic mutation in DDX3X
Matheus de Castro Fonseca, Juliana Ferreira de Oliveira, Bruno Henrique Silva Araújo, 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, Ângela Saito, C.C.C. Tonoli, Fernanda Aparecida Heleno Batista, Paulo Sérgio Lopes de Oliveira, Ana Carolina Migliorini Figueira, Silvia Souza da Costa, Ana Cristina Victorino Krepischi, Carla Rosenberg, Harry Westfahl, Antônio J. R. da Silva, Kleber G. Franchini
Abstract
L556S mutation as a disorder arising from protein misfolding and aggregation.
Topics & Concepts
Frameshift mutationMissense mutationMutantMutationNonsense mutationGeneticsRNA splicingBiologyProtein aggregationEctopic expressionMutant proteinCell biologyChemistryGeneRNAGenetics and Neurodevelopmental DisordersGenomics and Chromatin DynamicsRNA Research and Splicing