title: Nucleoporin genes in human diseases.
abstract: Nuclear pore complexes (NPCs) are large channels spanning the nuclear envelope that mediate nucleocytoplasmic transport. They are composed of multiple copies of ~30 proteins termed nucleoporins (NUPs). Alterations in NUP genes are linked to several human neoplastic and non-neoplastic diseases. This review focuses on NUPs, their genes, localization, function in the NPC and involvement in human diseases.
authors.affiliation: Department of Medicine, Laboratory of Molecular Medicine, CREO, University of Perugia, Perugia, Italy.
authors.forename: Valeria
authors.initials: V
authors.lastname: Nofrini
authors.affiliation: Department of Medicine, Laboratory of Molecular Medicine, CREO, University of Perugia, Perugia, Italy.
authors.forename: Danika
authors.initials: D
authors.lastname: Di Giacomo
authors.affiliation: Department of Medicine, Laboratory of Molecular Medicine, CREO, University of Perugia, Perugia, Italy.
authors.forename: Cristina
authors.initials: C
authors.lastname: Mecucci
mesh_terms: D000818:Animals; D002318:Cardiovascular Diseases / Q000235:genetics / Q000378:metabolism*; D006801:Humans; D007154:Immune System Diseases / Q000235:genetics / Q000378:metabolism*; D009369:Neoplasms / Q000235:genetics / Q000378:metabolism*; D009422:Nervous System Diseases / Q000235:genetics / Q000378:metabolism*; D028861:Nuclear Pore Complex Proteins / Q000235:genetics* / Q000378:metabolism
chemical_list: D028861:Nuclear Pore Complex Proteins