Proteomics and phosphoproteomics profiling in glutamatergic neurons and microglia in an iPSC model of Jansen de Vries Syndrome

BACKGROUND: Jansen de Vries Syndrome (JdVS) is a rare neurodevelopmental disorder (NDD) caused by gain-of-function (GOF) truncating mutations in PPM1D exons 5 or 6. PPM1D is a serine/threonine phosphatase that plays an important role in the DNA damage response (DDR) by negatively regulating TP53 (P5...

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Detalles Bibliográficos
Autores principales: Aguilan, Jennifer T., Pedrosa, Erika, Dolstra, Hedwig, Baykara, Refia Nur, Barnes, Jesse, Zhang, Jinghang, Sidoli, Simone, Lachman, Herbert M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10350077/
https://www.ncbi.nlm.nih.gov/pubmed/37461463
http://dx.doi.org/10.1101/2023.07.08.548192

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10350077/
https://www.ncbi.nlm.nih.gov/pubmed/37461463
http://dx.doi.org/10.1101/2023.07.08.548192

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