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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Detalles Bibliográficos
Autores principales: D’Apice, Maria Rosaria, De Dominicis, Angela, Murdocca, Michela, Amati, Francesca, Botta, Annalisa, Sangiuolo, Federica, Lattanzi, Giovanna, Federici, Massimo, Novelli, Giuseppe
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Pacini Editore Srl 2020
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7783430/
https://www.ncbi.nlm.nih.gov/pubmed/33458588
http://dx.doi.org/10.36185/2532-1900-036

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