{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Ma T"],"funding":["Chinese Academy of Sciences","Ministry of Science and Technology, Taiwan","Ministry of Science and Technology of the People&apos;s Republic of China","National Natural Science Foundation of China","National Key Research and Development Program of China"],"pagination":["109180"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC10909747"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["27(3)"],"pubmed_abstract":["Mutations of TRAPPC12 are associated with progressive childhood encephalopathy including abnormal white matter. However, the underlying pathogenesis is still unclear. Here, we found that <i>Trappc12</i> deficiency in CG4 and oligodendrocyte progenitor cells (OPCs) affects their differentiation and maturation. In addition, TRAPPC12 interacts with Mea6/cTAGE5, and <i>Mea6/cTAGE5</i> ablation in OPCs affects their proliferation and differentiation, leading to marked hypomyelination, compromised synaptic functionality, and aberrant behaviors in mice. We reveal that TRAPPC12 is associated with COPII components at ER exit site, and <i>Mea6/cTAGE5</i> cKO disrupts the trafficking pathway by affecting the distribution and/or expression of TRAPPC12, SEC13, SEC31A, and SAR1. Moreover, we observed ma"],"journal":["iScience"],"pubmed_title":["Mea6/cTAGE5 cooperates with TRAPPC12 to regulate PTN secretion and white matter development."],"pmcid":["PMC10909747"],"funding_grant_id":["2021ZD0202300","31921002","32394030","YJKYYQ20200052","32330038","2022YFC3600200","32061143026","91854118"],"pubmed_authors":["Yu L","Liu J","Shi L","Zhang D","Zhao L","Sun P","Wang T","Feng Y","He K","Ma T","Wang Y","Xu Z"],"additional_accession":[]},"is_claimable":false,"name":"Mea6/cTAGE5 cooperates with TRAPPC12 to regulate PTN secretion and white matter development.","description":"Mutations of TRAPPC12 are associated with progressive childhood encephalopathy including abnormal white matter. However, the underlying pathogenesis is still unclear. Here, we found that <i>Trappc12</i> deficiency in CG4 and oligodendrocyte progenitor cells (OPCs) affects their differentiation and maturation. In addition, TRAPPC12 interacts with Mea6/cTAGE5, and <i>Mea6/cTAGE5</i> ablation in OPCs affects their proliferation and differentiation, leading to marked hypomyelination, compromised synaptic functionality, and aberrant behaviors in mice. We reveal that TRAPPC12 is associated with COPII components at ER exit site, and <i>Mea6/cTAGE5</i> cKO disrupts the trafficking pathway by affecting the distribution and/or expression of TRAPPC12, SEC13, SEC31A, and SAR1. Moreover, we observed ma","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 Mar","modification":"2026-06-02T21:17:44.824Z","creation":"2025-04-19T22:01:14.7Z"},"accession":"S-EPMC10909747","cross_references":{"pubmed":["38439956"],"doi":["10.1016/j.isci.2024.109180"]}}