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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Detalhes bibliográficos
Publicado no: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
Formato: Artigo
Idioma:Inglês
Publicado em: Pacini Editore Srl 2020
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Original Article
Acesso em linha: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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