Laminopathies and lamin-associated signaling pathways

Nadir M. Maraldi, Cristina Capanni, Vittoria Cenni, Milena Fini, Giovanna Lattanzi

Research output: Contribution to journalArticle

Abstract

Laminopathies are genetic diseases due to mutations or altered post-translational processing of nuclear envelope/lamina proteins. The majority of laminopathies are caused by mutations in the LMNA gene, encoding lamin A/C, but manifest as diverse pathologies including muscular dystrophy, lipodystrophy, neuropathy, and progeroid syndromes. Lamin-binding proteins implicated in laminopathies include lamin B2, nuclear envelope proteins such as emerin, MAN1, LBR, and nesprins, the nuclear matrix protein matrin 3, the lamina-associated polypeptide, LAP2alpha and the transcriptional regulator FHL1. Thus, the altered functionality of a nuclear proteins network appears to be involved in the onset of laminopathic diseases. The functional interplay among different proteins involved in this network implies signaling partners. The signaling effectors may either modify nuclear envelope proteins and their binding properties, or use nuclear envelope/lamina proteins as platforms to regulate signal transduction. In this review, both aspects of lamin-linked signaling are presented and the major pathways so far implicated in laminopathies are summarized.

Original languageEnglish
Pages (from-to)979-992
Number of pages14
JournalJournal of Cellular Biochemistry
Volume112
Issue number4
DOIs
Publication statusPublished - Apr 2011

Keywords

  • Cellular signaling
  • Emerin
  • Lamin
  • Laminopathies
  • Nuclear envelope
  • Transcription factor anchorage

ASJC Scopus subject areas

  • Biochemistry
  • Cell Biology
  • Molecular Biology

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