Article
NMR structure of the first PHD finger of autoimmune regulator protein (AIRE1). Insights into autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) disease.
The Journal of biological chemistry - 25 Mar 2005
Bottomley Matthew James, Stier Gunter, Pennacchini Danilo, Legube Gaelle, Simon Bernd, Akhtar Asifa, Sattler Michael, Musco Giovanna
Abstract excerpt
Mutations in the autoimmune regulator protein AIRE1 cause a monogenic autosomal recessively inherited disease: autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED). AIRE1 is a multidomain protein that harbors two plant homeodomain (PHD)-type zinc fingers. The first PHD finger of AIRE1 is a mutational hot spot, to which several pathological point mutations have been mapped. Using heteronuclear...
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