The patent badge is an abbreviated version of the USPTO patent document. The patent badge does contain a link to the full patent document.
The patent badge is an abbreviated version of the USPTO patent document. The patent badge covers the following: Patent number, Date patent was issued, Date patent was filed, Title of the patent, Applicant, Inventor, Assignee, Attorney firm, Primary examiner, Assistant examiner, CPCs, and Abstract. The patent badge does contain a link to the full patent document (in Adobe Acrobat format, aka pdf). To download or print any patent click here.
Patent No.:
Date of Patent:
Oct. 04, 2005
Filed:
Oct. 02, 1998
Leena Peltonen, Los Angeles, CA (US);
Johanna Aaltonen, Helsinki, FI;
Petra Björses, Helsinki, FI;
Jaakko Perheentupa, Helsinki, FI;
Aarno Palotie, Los Angeles, CA (US);
Nina Horelli-kuitunen, Helsinki, FI;
Marie-laure Yaspo, Berlin, DE;
Hans Lehrach, Berlin, DE;
Leena Peltonen, Los Angeles, CA (US);
Johanna Aaltonen, Helsinki, FI;
Petra Björses, Helsinki, FI;
Jaakko Perheentupa, Helsinki, FI;
Aarno Palotie, Los Angeles, CA (US);
Nina Horelli-Kuitunen, Helsinki, FI;
Marie-Laure Yaspo, Berlin, DE;
Hans Lehrach, Berlin, DE;
National Public Health Institute, Helsinki, FI;
Abstract
APECED (Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy) is the only described systemic autoimmune disease with monogenic background. We have isolated a novel polynucleotide in chromosome 21q22.3 and identified five different mutations APECED patients originating from different populations. We named polypeptide, which is encoded by the said polynucleotide, APGD1 (i.e., autoimmune polyglandular disease type 1). The APGD1 polypeptide consists of 545 amino acid residues comprising two Cys(4)-His-Cys(3) double-paired finger motif similar to the PHD finger domains (zinc finger-like motifs). The identification of the polynucleotide facilitates direct genetic diagnosis of APECED and provides tools for dissection of the molecular pathogenesis of the disease.