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Abstract:
Laminopathies are a group of inherited disorders caused by mutations in the lamin A/C gene, and can affect diverse organs or tissues, or can be systemic, causing premature aging. In the present review, we report on the composition and structure of the nuclear lamina and the role of lamins in nuclear mechanics and their involvement in human diseases, and provide some examples of laminopathies and current therapeutic approaches.
Acknowledgments
All authors are members of the Italian Network for Laminopathies (http://www.igm.cnr.it/1/laminopatie). The support of Telethon-Unione Italiana Lotta alla Distrofia Muscolare (UILDM) (grants GUP 11001C and GUP 11002L to LP and 5‰- 2012 Rizzoli Orthopedic Institute to GL) is acknowledged. We thank patients, families, and patient/family associations (Associazione Italiana Progeria Sammy Basso, Associazione Italiana Distrofia di Emery-Dreifuss, and Alessandra Proietti Onlus) for their collaboration and constant support.
Disclosure
The authors report no conflicts of interest in this work.