title: Nuclear Pore Complexes and Nucleocytoplasmic Transport: From Structure to Function to Disease.
abstract: Nucleocytoplasmic transport is an essential cellular activity and occurs via nuclear pore complexes (NPCs) that reside in the double membrane of the nuclear envelope. Significant progress has been made during the past few years in unravelling the ultrastructural organization of NPCs and their constituents, the nucleoporins, by cryo-electron tomography and X-ray crystallography. Mass spectrometry and genomic approaches have provided deeper insight into the specific regulation and fine tuning of individual nuclear transport pathways. Recent research has also focused on the roles nucleoporins play in health and disease, some of which go beyond nucleocytoplasmic transport. Here we review emerging results aimed at understanding NPC architecture and nucleocytoplasmic transport at the atomic level, elucidating the specific function individual nucleoporins play in nuclear trafficking, and finally lighting up the contribution of nucleoporins and nuclear transport receptors in human diseases, such as cancer and certain genetic disorders.
authors.affiliation: Abteilung für Molekulare Strukturbiologie, Institut für Mikrobiologie und Genetik, Göttinger Zentrum für Molekulare Biowissenschaften, Georg-August-Universität Göttingen, Göttingen, Germany.
authors.forename: Achim
authors.initials: A
authors.lastname: Dickmanns
authors.affiliation: Department of Molecular Biology, Faculty of Medicine, Georg-August-University of Göttingen, Göttingen, Germany.
authors.forename: Ralph H
authors.initials: RH
authors.lastname: Kehlenbach
authors.affiliation: Institute of Molecular Biology and Medicine, Université Libre de Bruxelles, Charleroi, Belgium.
authors.forename: Birthe
authors.initials: B
authors.lastname: Fahrenkrog
mesh_terms: D021581:Active Transport, Cell Nucleus; D000818:Animals; D004194:Disease; D006262:Health; D006801:Humans; D008954:Models, Biological; D028861:Nuclear Pore Complex Proteins / Q000378:metabolism*; D034443:RNA Transport
chemical_list: D028861:Nuclear Pore Complex Proteins
keywords: Nuclear envelope; Nuclear pore complex; Nuclear transport receptor; Nucleocytoplasmic transport; Nucleoporin