{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"submitter":["Aguilan JT"],"funding":["NICHD NIH HHS","NIMH NIH HHS","NCI NIH HHS","NIH HHS"],"pubmed_abstract":["<h4>Background</h4>Jansen de Vries Syndrome (JdVS) is a rare neurodevelopmental disorder (NDD) caused by gain-of-function (GOF) truncating mutations in <i>PPM1D</i> 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 activity and has a GOF effect because of reduced degradation. Somatic <i>PPM1D</i> exons 5 and 6 truncating mutations are well-established factors in a number of cancers, due to excessive dephosphorylation and reduced function of P53 and other substrates involved in DDR. Children with JdVS have a variety of neurodevelopmental, psychiatric, and physical problems. In addition, a sm"],"journal":["bioRxiv : the preprint server for biology"],"pagination":["2023.07.08.548192"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC10350077"],"repository":["biostudies-literature"],"pubmed_title":["Proteomics and phosphoproteomics profiling in glutamatergic neurons and microglia in an iPSC model of Jansen de Vries Syndrome."],"pmcid":["PMC10350077"],"funding_grant_id":["R21 MH131740","P30 CA013330","S10 OD030286","P30 HD071593","S10 OD026833"],"pubmed_authors":["Aguilan JT","Baykara RN","Sidoli S","Barnes J","Lachman HM","Zhang J","Pedrosa E","Dolstra H"],"additional_accession":[]},"is_claimable":false,"name":"Proteomics and phosphoproteomics profiling in glutamatergic neurons and microglia in an iPSC model of Jansen de Vries Syndrome.","description":"<h4>Background</h4>Jansen de Vries Syndrome (JdVS) is a rare neurodevelopmental disorder (NDD) caused by gain-of-function (GOF) truncating mutations in <i>PPM1D</i> 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 activity and has a GOF effect because of reduced degradation. Somatic <i>PPM1D</i> exons 5 and 6 truncating mutations are well-established factors in a number of cancers, due to excessive dephosphorylation and reduced function of P53 and other substrates involved in DDR. Children with JdVS have a variety of neurodevelopmental, psychiatric, and physical problems. In addition, a sm","dates":{"release":"2023-01-01T00:00:00Z","publication":"2023 Jul","modification":"2026-05-25T03:08:41.06Z","creation":"2026-05-25T03:07:32.572Z"},"accession":"S-EPMC10350077","cross_references":{"pubmed":["37461463"],"doi":["10.1101/2023.07.08.548192"]}}