Cutaneous and metabolic defects associated with nuclear abnormalities in a transgenic mouse model expressing R527H lamin A mutation causing mandibuloacral dysplasia type A (MADA) syndrome

LMNA gene encodes for lamin A/C, attractive proteins linked to nuclear structure and functions. When mutated, it causes different rare diseases called laminopathies. In particular, an Arginine change in Histidine in position 527 (p.Arg527His) falling in the C-terminal domain of lamin A precursor for...

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Bibliografiske detaljer
Udgivet i:Acta Myol
Main Authors: D’Apice, Maria Rosaria, De Dominicis, Angela, Murdocca, Michela, Amati, Francesca, Botta, Annalisa, Sangiuolo, Federica, Lattanzi, Giovanna, Federici, Massimo, Novelli, Giuseppe
Format: Artigo
Sprog:Inglês
Udgivet: Pacini Editore Srl 2020
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Original Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7783430/
https://ncbi.nlm.nih.gov/pubmed/33458588
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.36185/2532-1900-036
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