Fiche détaillée de la technologie

 
Titre de la technologie / Technology Title
    Paget disease of bone
Description / Description
    The present invention relates to the methods and materials to detect a human gene located at the PDB3 locus on chromosome 5q35: the atypical protein kinase C-interacting protein p62/ sequestosome 1 (p62/SQSTM), some mutants of which cause Paget disease of bone. The invention also relates to therapeutic methods for treating Paget of Bone. More specifically, the present invention relates to germline mutations in the atypical protein kinase C-interacting protein p62 and their use in the diagnosis and predisposition to Paget disease of bone. The invention also relates to presymptomatic therapy of individuals who carry deleterious alleles of the p62 gene. The invention also relates to the therapy of Paget disease of bone of individuals who have mutations in the p62 gene (including gene therapy, protein replacement therapy, protein mimetics and inhibitors, RNA interference and antisense) The invention also relates to presymptomatic therapy of individuals
Inventeur / Inventor Collaborateur(s) / Collaborator(s) Contact / Contact Champs(s) d'intérêt(s) / Industry segment(s) Brevet(s) / Patent(s)
  • Canada
Numéro de la technologie / File Number : 00499
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