TY - JOUR
T1 - The nuclear pore complex
T2 - Disease associations and functional correlations
AU - Cronshaw, Janet M.
AU - Matunis, Michael J.
N1 - Funding Information:
We apologize to those authors we could not cite directly owing to space limitations. This work was supported by a grant from the American Cancer Society (RSG-01–064–01-CSM to MJM).
PY - 2004
Y1 - 2004
N2 - 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 ∼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.
AB - 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 ∼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.
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U2 - 10.1016/j.tem.2003.11.005
DO - 10.1016/j.tem.2003.11.005
M3 - Review article
C2 - 14693424
AN - SCOPUS:36348978046
SN - 1043-2760
VL - 15
SP - 34
EP - 39
JO - Trends in Endocrinology and Metabolism
JF - Trends in Endocrinology and Metabolism
IS - 1
ER -