Nucleoporin genes in human diseases

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...

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Bibliographic Details
Published in:European journal of human genetics : EJHG 2016-10, Vol.24 (10), p.1388-1395
Main Authors: Nofrini, Valeria, Di Giacomo, Danika, Mecucci, Cristina
Format: Article
Language:English
Subjects:
Adapter proteins
Animals
Cancer
Cardiovascular Diseases - genetics
Cardiovascular Diseases - metabolism
Cell cycle
Gene expression
Humans
Immune System Diseases - genetics
Immune System Diseases - metabolism
Laboratories
Leukemia
Localization
Neoplasms - genetics
Neoplasms - metabolism
Nervous System Diseases - genetics
Nervous System Diseases - metabolism
Nuclear Pore Complex Proteins - genetics
Nuclear Pore Complex Proteins - metabolism
Nucleoporins
Review
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Summary: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.
ISSN:1018-4813
1476-5438
DOI:10.1038/ejhg.2016.25