Endocrine Abstracts

Background: Autoimmune polyendocrine syndrome type 1 (APS1) is a disorder caused by mutations of the autoimmune regulator (AIRE) gene, that controls central tolerance. Tetrahydrobiopterin (BH4)-dependent hydroxylases, consisting of tryptophan hydroxylase (TPH1 and TPH2), tyrosine hydroxylase (TH) and phenylalanine hydroxylase (PAH) are commonly targeted autoantigens. Nevertheless, detailed characterization of their epitopes and independent roles of TPH isoforms has ...