SCARB1 downregulation in adrenal insufficiency with Allgrove syndrome

SCARB1 downregulation in adrenal insufficiency with Allgrove syndrome

Abstract 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 nucleocytopl...

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Main Authors: Giacomo Bitetto, Gianluca Lopez, Dario Ronchi, Alessandra Pittaro, Valentina Melzi, Erika Peverelli, Fulvia Milena Cribiù, Giacomo P. Comi, Giovanna Mantovani, Alessio Di Fonzo
Format: Article
Language:English
Published: BMC 2023-06-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Allgrove syndrome
Adrenal cortex
Adrenal insufficiency
PKA
SCARB1
Online Access:https://doi.org/10.1186/s13023-023-02763-w

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