Isolated 17,20-Lyase Deficiency due to the Cytochrome b5 Mutation W27X-Reference-Cited by-同舟云学术

Isolated 17,20-Lyase Deficiency due to the Cytochrome b5 Mutation W27X

Published:2010-03-01 Issue:3 Volume:95 Page:994-999
ISSN:0021-972X
Container-title:The Journal of Clinical Endocrinology & Metabolism
language:en
Short-container-title:

Author:

Kok Renée C.¹²,Timmerman Marianna A.¹,Wolffenbuttel Katja P.³,Drop Stenvert L. S.²,de Jong Frank H.¹

Affiliation:

1. Department of Internal Medicine, Division of Endocrinology (R.C.K., M.A.T., F.H.d.J.), Erasmus University Medical Centre, 3000 CA Rotterdam, The Netherlands

2. Department of Pediatrics, Division of Pediatric Endocrinology (R.C.K., S.L.S.D.), Erasmus University Medical Centre, 3000 CA Rotterdam, The Netherlands

3. Department of Pediatric Urology (K.P.W.), Erasmus University Medical Centre, 3000 CA Rotterdam, The Netherlands

Publisher

The Endocrine Society

Subject

Biochemistry (medical),Clinical Biochemistry,Endocrinology,Biochemistry,Endocrinology, Diabetes and Metabolism

Link

http://academic.oup.com/jcem/article-pdf/95/3/994/9064819/jcem0994.pdf

Reference28 articles.

1. Role of electron transport in the regulation of the lyase activity of C21 side-chain cleavage from porcine adrenal and testicular microsomes;Yanagibashi;J Biol Chem,1986

2. Cytochrome b5 stimulates purified testicular microsomal cytochrome P-450 (C21 side-chain cleavage);Onoda;Biochem Biophys Res Commun,1982

3. Cytochrome b5 augments the 17,20-lyase activity of human P450c17 without direct electron transfer;Auchus;J Biol Chem,1998

4. P450c17 mutations R347H and R358Q selectively disrupt 17,20-lyase activity by disrupting interactions with P450 oxidoreductase and cytochrome b5;Geller;Mol Endocrinol,1999