{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["100(10)"],"submitter":["Cronshaw JM"],"pubmed_abstract":["Triple A syndrome is a human autosomal recessive disorder characterized by an unusual array of tissue-specific defects. Triple A syndrome arises from mutations in a WD-repeat protein of unknown function called ALADIN (also termed Adracalin or AAAS). We showed previously that ALADIN localizes to nuclear pore complexes (NPCs), large multiprotein assemblies that are the sole sites of nucleocytoplasmic transport. Here, we present evidence indicating that NPC targeting is essential for the function of ALADIN. Characterization of mutant ALADIN proteins from triple A patients revealed a striking effect of these mutations on NPC targeting. A variety of disease-associated missense, nonsense, and frameshift mutations failed to localize to NPCs and were found predominantly in the cytoplasm. Microscop"],"journal":["Proceedings of the National Academy of Sciences of the United States of America"],"pagination":["5823-7"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC156285"],"repository":["biostudies-literature"],"pubmed_title":["The nuclear pore complex protein ALADIN is mislocalized in triple A syndrome."],"pmcid":["PMC156285"],"pubmed_authors":["Matunis MJ","Cronshaw JM"],"additional_accession":[]},"is_claimable":false,"name":"The nuclear pore complex protein ALADIN is mislocalized in triple A syndrome.","description":"Triple A syndrome is a human autosomal recessive disorder characterized by an unusual array of tissue-specific defects. Triple A syndrome arises from mutations in a WD-repeat protein of unknown function called ALADIN (also termed Adracalin or AAAS). We showed previously that ALADIN localizes to nuclear pore complexes (NPCs), large multiprotein assemblies that are the sole sites of nucleocytoplasmic transport. Here, we present evidence indicating that NPC targeting is essential for the function of ALADIN. Characterization of mutant ALADIN proteins from triple A patients revealed a striking effect of these mutations on NPC targeting. A variety of disease-associated missense, nonsense, and frameshift mutations failed to localize to NPCs and were found predominantly in the cytoplasm. Microscop","dates":{"release":"2003-01-01T00:00:00Z","publication":"2003 May","modification":"2025-04-04T13:27:41.456Z","creation":"2019-06-05T19:16:56Z"},"accession":"S-EPMC156285","cross_references":{"pubmed":["12730363"],"doi":["10.1073/pnas.1031047100"]}}