SCARB1 downregulation in adrenal insufficiency with Allgrove syndrome

BACKGROUND: Allgrove disease is a rare genetic syndrome characterized by adrenal insufficiency, alacrimia, achalasia and complex neurological involvement. Allgrove disease is due to recessive mutations in the AAAS gene, which encodes for the nucleoporin Aladin, implicated in the nucleocytoplasmic tr...

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Detalles Bibliográficos
Autores principales: Bitetto, Giacomo, Lopez, Gianluca, Ronchi, Dario, Pittaro, Alessandra, Melzi, Valentina, Peverelli, Erika, Cribiù, Fulvia Milena, Comi, Giacomo P., Mantovani, Giovanna, Di Fonzo, Alessio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10278336/
https://www.ncbi.nlm.nih.gov/pubmed/37331934
http://dx.doi.org/10.1186/s13023-023-02763-w

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10278336/
https://www.ncbi.nlm.nih.gov/pubmed/37331934
http://dx.doi.org/10.1186/s13023-023-02763-w

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