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.
journal_name
Gastroenterologyjournal_title
Gastroenterologyauthors
Brady GF,Kwan R,Bragazzi Cunha J,Elenbaas JS,Omary MBdoi
10.1053/j.gastro.2018.03.026subject
Has Abstractpub_date
2018-05-01 00:00:00pages
1602-1619.e1issue
6eissn
0016-5085issn
1528-0012pii
S0016-5085(18)30320-2journal_volume
154pub_type
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