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FMRP activity and control of Csw/SHP2 translation regulate MAPK-dependent synaptic transmission

Noonan syndrome (NS) and NS with multiple lentigines (NSML) cognitive dysfunction are linked to SH2 domain-containing protein tyrosine phosphatase-2 (SHP2) gain-of-function (GoF) and loss-of-function (LoF), respectively. In Drosophila disease models, we find both SHP2 mutations from human patients a...

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Detalles Bibliográficos
Autores principales: Leahy, Shannon N., Song, Chunzhu, Vita, Dominic J., Broadie, Kendal
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9879533/
https://www.ncbi.nlm.nih.gov/pubmed/36701299
http://dx.doi.org/10.1371/journal.pbio.3001969