Two novel mutations of the AIRE protein affecting its homodimerization properties. (Articolo in rivista)

Type
Label
  • Two novel mutations of the AIRE protein affecting its homodimerization properties. (Articolo in rivista) (literal)
Anno
  • 2005-01-01T00:00:00+01:00 (literal)
Alternative label
  • Meloni A, Fiorillo E, Corda D, Perniola R, Cao A, Rosatelli MC (2005)
    Two novel mutations of the AIRE protein affecting its homodimerization properties.
    in Human mutation
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • Meloni A, Fiorillo E, Corda D, Perniola R, Cao A, Rosatelli MC (literal)
Pagina inizio
  • 319 (literal)
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  • 25 (literal)
Rivista
Note
  • ISI Web of Science (WOS) (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
  • 1. Dipartimento di Scienze Biomediche e Biotecnologie - Università di Cagliari 2. INN - CNR - Cagliari (literal)
Titolo
  • Two novel mutations of the AIRE protein affecting its homodimerization properties. (literal)
Abstract
  • We report two novel mutations, c.230T>C (p.F77S) and c.64_69del (p.V22_D23del) within the HSR domain of the AIRE protein in two patients of Italian descent affected by APECED. Both mutations were found in the compound heterozygous state respectively with c.994+5G>T and c.232T>A (p.W78R). With the two-hybrid assay in the yeast system we found that constructs containing the two mutations fail to interact with the wild-type protein. These findings indicate that both mutations negatively affected the homodimerization properties of the AIRE protein, thereby leading to a defective functio (literal)
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