{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Pembridge OG"],"funding":["NEI NIH HHS","Pew Charitable Trusts","NIDDK NIH HHS","NCI NIH HHS","Vanderbilt University","NIGMS NIH HHS","NIGMS"],"pagination":["100945"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9992121"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["87"],"pubmed_abstract":["Mutations in the heterotetrametric adaptor protein 4 (AP-4; ε/β4/μ4/σ4 subunits) membrane trafficking coat complex lead to complex neurological disorders characterized by spastic paraplegia, microcephaly, and intellectual disabilities. Understanding molecular mechanisms underlying these disorders continues to emerge with recent identification of an essential autophagy protein, ATG9A, as an AP-4 cargo. Significant progress has been made uncovering AP-4 function in cell culture and patient-derived cell lines, and ATG9A trafficking by AP-4 is considered a potential target for gene therapy approaches. In contrast, understanding how AP-4 trafficking affects development and function at the organismal level has long been hindered by loss of conserved AP-4 genes in key model systems (S. cerevisiae"],"journal":["Advances in biological regulation"],"pubmed_title":["AP-4 loss in CRISPR-edited zebrafish affects early embryo development."],"pmcid":["PMC9992121"],"funding_grant_id":["DK58404","R35 GM119525","DK59637","U24 DK059637","P30 DK058404","P30 EY008126","CA68485","DK20593","R35GM119525","EY08126","P30 DK020593","P30 CA068485","T32 GM008320"],"pubmed_authors":["Jackson LP","Wallace NS","Clements TP","Pembridge OG"],"additional_accession":[]},"is_claimable":false,"name":"AP-4 loss in CRISPR-edited zebrafish affects early embryo development.","description":"Mutations in the heterotetrametric adaptor protein 4 (AP-4; ε/β4/μ4/σ4 subunits) membrane trafficking coat complex lead to complex neurological disorders characterized by spastic paraplegia, microcephaly, and intellectual disabilities. Understanding molecular mechanisms underlying these disorders continues to emerge with recent identification of an essential autophagy protein, ATG9A, as an AP-4 cargo. Significant progress has been made uncovering AP-4 function in cell culture and patient-derived cell lines, and ATG9A trafficking by AP-4 is considered a potential target for gene therapy approaches. In contrast, understanding how AP-4 trafficking affects development and function at the organismal level has long been hindered by loss of conserved AP-4 genes in key model systems (S. cerevisiae","dates":{"release":"2023-01-01T00:00:00Z","publication":"2023 Jan","modification":"2025-04-26T07:48:57.969Z","creation":"2025-04-06T12:29:39.605Z"},"accession":"S-EPMC9992121","cross_references":{"pubmed":["36642642"],"doi":["10.1016/j.jbior.2022.100945"]}}