title: The nuclear pore complex: disease associations and functional correlations.
abstract: Nuclear pore complexes (NPCs) are large protein structures spanning the double membrane of the eukaryotic nucleus that serve as sites for translocation of macromolecules between the nucleus and the cytoplasm. The vertebrate NPC has recently been found to comprise approximately 30 distinct proteins, collectively referred to as nucleoporins. Studies over the past several years have demonstrated that individual nucleoporins have unique roles in regulating NPC function and the nucleocytoplasmic transport of proteins and RNAs. The unique functions of individual nucleoporins have been made most clear through their associations with specific human diseases. Here, we highlight the relationships between individual nucleoporins and disease, with particular emphasis given to ALADIN, a nucleoporin linked to a genetically heritable human disease known as triple A syndrome.
authors.affiliation: Johns Hopkins University, Bloomberg School of Public Health, Baltimore, MD 21205, USA.
authors.forename: Janet M
authors.initials: JM
authors.lastname: Cronshaw
authors.forename: Michael J
authors.initials: MJ
authors.lastname: Matunis
mesh_terms: D021581:Active Transport, Cell Nucleus; D000818:Animals; D002467:Cell Nucleus / Q000378:metabolism; D003593:Cytoplasm / Q000378:metabolism; D006801:Humans; D028861:Nuclear Pore Complex Proteins / Q000378:metabolism*; D009687:Nuclear Proteins / Q000378:metabolism*; D012313:RNA / Q000378:metabolism*
chemical_list: D028861:Nuclear Pore Complex Proteins; D009687:Nuclear Proteins; D012313:RNA