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Titolo:
Genetics of vitamin D biosynthesis and its disorders
Autore:
Miller, WL; Portale, AA;
Indirizzi:
Univ Calif San Francisco, Dept Pediat, San Francisco, CA 94143 USA Univ Calif San Francisco San Francisco CA USA 94143 ancisco, CA 94143 USA Univ Calif San Francisco, Metab Res Unit, San Francisco, CA 94143 USA UnivCalif San Francisco San Francisco CA USA 94143 ancisco, CA 94143 USA Univ Calif San Francisco, Dept Med, San Francisco, CA 94143 USA Univ CalifSan Francisco San Francisco CA USA 94143 ancisco, CA 94143 USA
Titolo Testata:
BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM
fascicolo: 1, volume: 15, anno: 2001,
pagine: 95 - 109
SICI:
1521-690X(200103)15:1<95:GOVDBA>2.0.ZU;2-Q
Fonte:
ISI
Lingua:
ENG
Soggetto:
D-DEFICIENCY RICKETS; 25-HYDROXYVITAMIN D-3 1-ALPHA-HYDROXYLASE; RAT-LIVER MITOCHONDRIA; D-DEPENDENT RICKETS; MOLECULAR-CLONING; STEROL 27-HYDROXYLASE; 17,20-LYASE ACTIVITY; FRENCH-CANADIANS; CYTOCHROME B(5); ENZYME-ACTIVITY;
Keywords:
vitamin D; kidney; cytochrome p450; rickets; 1 alpha-hydroxylase;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
54
Recensione:
Indirizzi per estratti:
Indirizzo: Miller, WL Univ Calif San Francisco, Dept Pediat, Bldg MR-IV,Room 209, SanFrancisco,CA 94143 USA Univ Calif San Francisco Bldg MR-IV,Room 209 San Francisco CA USA 94143
Citazione:
W.L. Miller e A.A. Portale, "Genetics of vitamin D biosynthesis and its disorders", BEST PRAC R, 15(1), 2001, pp. 95-109

Abstract

The principal hormone regulator of bone mineralization is vitamin D, whichmust be activated by a metabolic pathway consisting of a 25-hydroxylase and a 1 alpha -hydroxylase to yield 1,25 (OH)(2)D. The hormonal regulation ofvitamin D activation is at the level of the 1 alpha -hydroxylase. We review the biology of vitamin D, the biochemistry of its activation and the molecular biology of the vitamin D-metabolizing enzymes. Recent advances have resulted in the cloning of the human vitamin D 1 alpha -hydroxylase and the identification of mutations in its gene that cause Vitamin D Dependent Rickets type I.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 15/07/20 alle ore 14:23:52