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

2023-07-08

Abstract excerpt

<h4>Background</h4> 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 (P53). JdVS-associated mutations lead to the formation of a truncated PPM1D protein that retains catalytic act...

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Literature Corpus work
c22bc259-3c57-5a5e-953c-208207425095
DOI
10.1101/2023.07.08.548192
Open publication

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Proteomics and phosphoproteomics profiling in glutamatergic neurons and microglia in an iPSC model of Jansen de Vries SyndromeDOI 10.1101/2023.07.08.548192
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