The nuclear pore complex: Disease associations and functional correlations

Janet M. Cronshaw, Michael J. Matunis

Research output: Contribution to journalReview article

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 ∼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.

Original languageEnglish (US)
Pages (from-to)34-39
Number of pages6
JournalTrends in Endocrinology and Metabolism
Volume15
Issue number1
DOIs
StatePublished - Jan 1 2004

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Endocrinology

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