{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Byrd DT"],"funding":["PACS1 Foundation","ORIP NIH HHS","NINDS NIH HHS","NIH","NIH HHS","Office of Research Infrastructure Programs"],"pagination":["iyae118"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11457933"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["228(2)"],"pubmed_abstract":["PACS (phosphofurin acidic cluster sorting) proteins are known for their roles in sorting cargo proteins to organelles and can physically interact with WD40 repeat-containing protein WDR37. PACS1, PACS2, and WDR37 variants are associated with multisystemic syndromes and neurodevelopmental disorders characterized by intellectual disability, seizures, developmental delays, craniofacial abnormalities, and autism spectrum disorder. However, the functional effects of syndromic variants at the cellular level remain unknown. Here, we report the expression pattern of Caenorhabditis elegans orthologs of PACS and WDR37 and their interaction. We show that cePACS-1 and ceWDR-37 colocalize to somatic cytoplasm of many types of cells and are mutually required for expression, supporting a conclusion that "],"journal":["Genetics"],"pubmed_title":["PACS-1 variant protein is aberrantly localized in Caenorhabditis elegans model of PACS1/PACS2 syndromes."],"pmcid":["PMC11457933"],"funding_grant_id":["R35 NS127314","R03NS121487","NS R35NS127314","P40 OD010440","R03 NS121487"],"pubmed_authors":["Han ZC","Piggott CA","Jin Y","Byrd DT"],"additional_accession":[]},"is_claimable":false,"name":"PACS-1 variant protein is aberrantly localized in Caenorhabditis elegans model of PACS1/PACS2 syndromes.","description":"PACS (phosphofurin acidic cluster sorting) proteins are known for their roles in sorting cargo proteins to organelles and can physically interact with WD40 repeat-containing protein WDR37. PACS1, PACS2, and WDR37 variants are associated with multisystemic syndromes and neurodevelopmental disorders characterized by intellectual disability, seizures, developmental delays, craniofacial abnormalities, and autism spectrum disorder. However, the functional effects of syndromic variants at the cellular level remain unknown. Here, we report the expression pattern of Caenorhabditis elegans orthologs of PACS and WDR37 and their interaction. We show that cePACS-1 and ceWDR-37 colocalize to somatic cytoplasm of many types of cells and are mutually required for expression, supporting a conclusion that ","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 Oct","modification":"2026-07-15T13:06:02.926Z","creation":"2025-04-06T13:21:40.578Z"},"accession":"S-EPMC11457933","cross_references":{"pubmed":["39031646"],"doi":["10.1093/genetics/iyae118"]}}