Lamins and Lamin-Associated Proteins in Gastrointestinal Health and Disease

A1 Originalartikel i en vetenskaplig tidskrift (referentgranskad)


Interna författare/redaktörer


Publikationens författare: Brady GF, Kwan R, Cunha JB, Elenbaas JS, Omary MB
Förläggare: W B SAUNDERS CO-ELSEVIER INC
Publiceringsår: 2018
Tidskrift: Gastroenterology
Tidskriftsakronym: GASTROENTEROLOGY
Volym: 154
Nummer: 6
Artikelns första sida, sidnummer: 1602
Artikelns sista sida, sidnummer: 1619
Antal sidor: 19
ISSN: 0016-5085


Abstrakt

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.


Nyckelord

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

Senast uppdaterad 2019-19-08 vid 07:20