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SCARB1 downregulation in adrenal insufficiency with Allgrove syndrome

18 Jun 2023

Abstract excerpt

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 transport. The adrenal insufficiency has been suggested to rely on adrenal gland-ACTH resistance. However, the link...

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PMID: 37331934
DOI: 10.1186/s13023-023-02763-w

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