Lamins and Lamin-Associated Proteins in Gastrointestinal Health and Disease

GF Brady, R Kwan, JB Cunha, JS Elenbaas, Bishr Omary

Research output: Contribution to journalArticleScientificpeer-review

10 Citations (Scopus)

Abstract

The nuclear lamina is a multi-protein lattice composed of A-and B-type lamins and their associated proteins. This protein lattice associates with heterochromatin and integral inner nuclear membrane proteins, providing links among the genome, nucleoskeleton, and cytoskeleton. In the 1990s, mutations in EMD and LMNA were linked to Emery-Dreifuss muscular dystrophy. Since then, the number of diseases attributed to nuclear lamina defects, including laminopathies and other disorders, has increased to include more than 20 distinct genetic syndromes. Studies of patients and mouse genetic models have pointed to important roles for lamins and their associated proteins in the function of gastrointestinal organs, including liver and pancreas. We review the interactions and functions of the lamina in relation to the nuclear envelope and genome, the ways in which its dysfunction is thought to contribute to human disease, and possible avenues for targeted therapies.
Original languageUndefined/Unknown
Pages (from-to)1602–1619
Number of pages19
JournalGastroenterology
Volume154
Issue number6
DOIs
Publication statusPublished - 2018
MoE publication typeA1 Journal article-refereed

Keywords

  • Envelopathies
  • Progeria
  • Myopathy
  • Neuropathy
  • Lipodystrophy
  • Nonalcoholic Fatty Liver Disease
  • nucleoskeleton

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