Nuclear envelopathies: a complex LINC between nuclear envelope and pathology

Abstract Since the identification of the first disease causing mutation in the gene coding for emerin, a transmembrane protein of the inner nuclear membrane, hundreds of mutations and variants have been found in genes encoding for nuclear envelope components. These proteins can be part of the inner...

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Bibliographic Details
Main Authors: Alexandre Janin, Delphine Bauer, Francesca Ratti, Gilles Millat, Alexandre Méjat
Format: Article
Language:English
Published: BMC 2017-08-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Online Access:http://link.springer.com/article/10.1186/s13023-017-0698-x