Rescue of the phenotype of CYP27B1 (1α-hydroxylase)-deficient mice

• Published in: Journal of steroid biochemistry and molecular biology Vol. 89; no. 1-5; pp. 327 - 330
• Main Authors: Dardenne, Olivier, Prud’homme, Josée, Glorieux, Francis H., St-Arnaud, René
• Format: Journal Article Conference Proceeding
• Language: English
• Published: Oxford Elsevier Ltd 01.05.2004; Elsevier Science
• Subjects: 25-hydroxyvitamin D-1α-hydroxylase; 25-Hydroxyvitamin D3 1-alpha-Hydroxylase - genetics; 25-Hydroxyvitamin D3 1-alpha-Hydroxylase - physiology; Animals; Biological and medical sciences; Calcitriol - administration & dosage; CYP27B1; Fundamental and applied biological sciences. Psychology; Mice; Mice, Knockout; Phenotype; Rickets; Vertebrates: endocrinology; Vitamin D; CYP27B1; Rickets; Vitamin D; 25-hydroxyvitamin D-1α-hydroxylase; Enzyme; Deficiency; Hydroxylase; Rodentia; Vertebrata; Phenotype; Mammalia; Mouse; Animal; Oxidoreductases; CYP27B I

The treatment of choice for pseudo Vitamin D deficiency rickets (PDDR), caused by mutations in the 25-hydroxyvitamin D-1α-hydroxylase (CYP27B1; 1α-OHase) gene, is replacement therapy with 1,25(OH) 2D 3. We have previously engineered an animal model of PDDR by targeted inactivation of the 1α-OHase ge...