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Emerging perspectives on laminopathies

Authors Lattanzi G, Benedetti S, D'Apice MR, Maggi L, Carboni N, Scarano E, Politano L

Received 30 September 2015

Accepted for publication 13 January 2016

Published 7 April 2016 Volume 2016:8 Pages 25—35

DOI https://doi.org/10.2147/CHC.S59507

Checked for plagiarism Yes

Review by Single-blind

Peer reviewers approved by Dr Pramod Sukumaran

Peer reviewer comments 3

Editor who approved publication: Professor Denis Wirtz


Giovanna Lattanzi,1,2 Sara Benedetti,3 Maria Rosaria D’Apice,4 Lorenzo Maggi,5 Nicola Carboni,6 Emanuela Scarano,7 Luisa Politano8

1
National Research Council of Italy, Institute for Molecular Genetics (CNR-IGM), Unit of Bologna, 2Rizzoli Orthopedic Institute, Laboratory of Musculoskeletal Cell Biology, Bologna, 3Laboratory of Clinical Molecular Biology and Cytogenetics, San Raffaele Scientific Institute, Milan, 4Fondazione Policlinico Tor Vergata, Rome, 5Neuromuscular Diseases and Neuroimmunology Unit, IRCCS Neurological Institute C Besta, Milan, 6Division of Neurology, Hospital San Francesco, Nuoro, 7Pediatric Endocrinology and Rare Diseases Unit, Department of Pediatrics, S Orsola-Malpighi University Hospital, University of Bologna, Bologna, 8Department of Experimental Medicine, Cardiomyology and Medical Genetics, Second University of Naples, Naples, Italy

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.

Keywords:
lamin A/C, emerin, laminopathies, Emery–Dreifuss muscular dystrophy, Hutchinson–Gilford progeria

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