FXS causing missense mutations disrupt FMRP granule formation, dynamics, and function

Fragile X Syndrome (FXS) is the most prevalent cause of inherited mental deficiency and is the most common monogenetic cause of autism spectral disorder (ASD). Here, we demonstrate that disease-causing missense mutations in the conserved K homology (KH) RNA binding domains (RBDs) of FMRP cause defec...

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Detalles Bibliográficos
Autores principales: Starke, Emily L., Zius, Keelan, Barbee, Scott A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8903291/
https://www.ncbi.nlm.nih.gov/pubmed/35202393
http://dx.doi.org/10.1371/journal.pgen.1010084

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8903291/
https://www.ncbi.nlm.nih.gov/pubmed/35202393
http://dx.doi.org/10.1371/journal.pgen.1010084

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