Laminopathies

Nadir M. Maraldi, Giovanna Lattanzi

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

The laminopathies are a group of rare diseases characterized by a vast range of phenotypic alterations, due to mutations in lamin A and C or other nuclear envelope proteins. A-type lamins, as well as B-type lamins, belong to the type V intermediate filaments and, by polymerization, form the nuclear lamina, a component of the nuclear envelope. Following a brief description of the complex interactions between lamins and proteins of the nuclear membrane, this Chapter describes disease phenotypes that characterize each laminopathy, the possible mechanisms involved into the pathogenesis, as well as potential therapies based on the use of existing drugs.

Original languageEnglish
Title of host publicationCytoskeleton and Human Disease
PublisherHumana Press Inc.
Pages375-409
Number of pages35
Volume9781617797880
ISBN (Print)9781617797880, 1617797871, 9781617797873
DOIs
Publication statusPublished - Dec 1 2012

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)

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