Progeroid syndrome patients with ZMPSTE24 deficiency could benefit when treated with rapamycin and dimethylsulfoxide

Patients with progeroid syndromes such as mandibuloacral dysplasia, type B (MADB) and restrictive dermopathy (RD) harbor mutations in zinc metalloproteinase (ZMPSTE24), an enzyme essential for posttranslational proteolysis of prelamin A to form mature lamin A. Dermal fibroblasts from these patients...

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Detalles Bibliográficos
Autores principales: Akinci, Baris, Sankella, Shireesha, Gilpin, Christopher, Ozono, Keiichi, Garg, Abhimanyu, Agarwal, Anil K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2017
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5171694/
https://www.ncbi.nlm.nih.gov/pubmed/28050601
http://dx.doi.org/10.1101/mcs.a001339

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5171694/
https://www.ncbi.nlm.nih.gov/pubmed/28050601
http://dx.doi.org/10.1101/mcs.a001339

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