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Lipodystrophic syndromes due to LMNA mutations: recent developments on biomolecular aspects, pathophysiological hypotheses and therapeutic perspectives

Mutations in LMNA, encoding A-type lamins, are responsible for laminopathies including muscular dystrophies, lipodystrophies, and premature ageing syndromes. LMNA mutations have been shown to alter nuclear structure and stiffness, binding to partners at the nuclear envelope or within the nucleoplasm...

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Dades bibliogràfiques
Publicat a:Nucleus
Autors principals: Vigouroux, Corinne, Guénantin, Anne-Claire, Vatier, Camille, Capel, Emilie, Le Dour, Caroline, Afonso, Pauline, Bidault, Guillaume, Béréziat, Véronique, Lascols, Olivier, Capeau, Jacqueline, Briand, Nolwenn, Jéru, Isabelle
Format: Artigo
Idioma:Inglês
Publicat: Taylor & Francis 2018
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5973242/
https://ncbi.nlm.nih.gov/pubmed/29578370
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1080/19491034.2018.1456217
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