Literature DB >> 30080183

The good and the bad of vitamin D inactivation.

Marie B Demay.   

Abstract

While disorders of impaired vitamin D activation and action have long been appreciated, the consequences of abnormalities in pathways leading to the inactivation of vitamin D metabolites have only recently been identified. Two recent articles have shed new light on this area of vitamin D biology. The report by Martineau et al., published in the JCI, describes a pathway in which binding of the vitamin D metabolite 24R,25(OH)2D3 to its effector molecule FAM57B2 plays an important role in endochondral ossification during bone repair. This work follows, and adds to, another recent JCI publication by Roizen et al., showing that rapid inactivation of vitamin D metabolites causes vitamin D deficiency, leading to vitamin D-dependent rickets.

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Year:  2018        PMID: 30080183      PMCID: PMC6118600          DOI: 10.1172/JCI122046

Source DB:  PubMed          Journal:  J Clin Invest        ISSN: 0021-9738            Impact factor:   14.808


  14 in total

1.  Deficient mineralization of intramembranous bone in vitamin D-24-hydroxylase-ablated mice is due to elevated 1,25-dihydroxyvitamin D and not to the absence of 24,25-dihydroxyvitamin D.

Authors:  R St-Arnaud; A Arabian; R Travers; F Barletta; M Raval-Pandya; K Chapin; J Depovere; C Mathieu; S Christakos; M B Demay; F H Glorieux
Journal:  Endocrinology       Date:  2000-07       Impact factor: 4.736

2.  THE INDUCTION OF GROWTH PROMOTING AND CALCIFYING PROPERTIES IN A RATION BY EXPOSURE TO LIGHT.

Authors:  H Steenbock
Journal:  Science       Date:  1924-09-05       Impact factor: 47.728

3.  Mutations in CYP24A1 and idiopathic infantile hypercalcemia.

Authors:  Karl P Schlingmann; Martin Kaufmann; Stefanie Weber; Andrew Irwin; Caroline Goos; Ulrike John; Joachim Misselwitz; Günter Klaus; Eberhard Kuwertz-Bröking; Henry Fehrenbach; Anne M Wingen; Tülay Güran; Joost G Hoenderop; René J Bindels; David E Prosser; Glenville Jones; Martin Konrad
Journal:  N Engl J Med       Date:  2011-06-15       Impact factor: 91.245

Review 4.  CYP3A activity: towards dose adaptation to the individual.

Authors:  Nicolas Hohmann; Walter E Haefeli; Gerd Mikus
Journal:  Expert Opin Drug Metab Toxicol       Date:  2016-03-26       Impact factor: 4.481

5.  Genetic defect in CYP24A1, the vitamin D 24-hydroxylase gene, in a patient with severe infantile hypercalcemia.

Authors:  Andrew Dauber; Thutrang T Nguyen; Etienne Sochett; David E C Cole; Ronald Horst; Steven A Abrams; Thomas O Carpenter; Joel N Hirschhorn
Journal:  J Clin Endocrinol Metab       Date:  2011-11-23       Impact factor: 5.958

6.  CYP2R1 Mutations Impair Generation of 25-hydroxyvitamin D and Cause an Atypical Form of Vitamin D Deficiency.

Authors:  Tom D Thacher; Philip R Fischer; Ravinder J Singh; Jeffrey Roizen; Michael A Levine
Journal:  J Clin Endocrinol Metab       Date:  2015-05-05       Impact factor: 5.958

7.  CYP3A4 mutation causes vitamin D-dependent rickets type 3.

Authors:  Jeffrey D Roizen; Dong Li; Lauren O'Lear; Muhammad K Javaid; Nicholas J Shaw; Peter R Ebeling; Hanh H Nguyen; Christine P Rodda; Kenneth E Thummel; Tom D Thacher; Hakon Hakonarson; Michael A Levine
Journal:  J Clin Invest       Date:  2018-04-03       Impact factor: 14.808

8.  Point mutations in the human vitamin D receptor gene associated with hypocalcemic rickets.

Authors:  M R Hughes; P J Malloy; D G Kieback; R A Kesterson; J W Pike; D Feldman; B W O'Malley
Journal:  Science       Date:  1988-12-23       Impact factor: 47.728

9.  Genetic evidence that the human CYP2R1 enzyme is a key vitamin D 25-hydroxylase.

Authors:  Jeffrey B Cheng; Michael A Levine; Norman H Bell; David J Mangelsdorf; David W Russell
Journal:  Proc Natl Acad Sci U S A       Date:  2004-05-05       Impact factor: 11.205

10.  Optimal bone fracture repair requires 24R,25-dihydroxyvitamin D3 and its effector molecule FAM57B2.

Authors:  Corine Martineau; Roy Pascal Naja; Abdallah Husseini; Bachar Hamade; Martin Kaufmann; Omar Akhouayri; Alice Arabian; Glenville Jones; René St-Arnaud
Journal:  J Clin Invest       Date:  2018-07-16       Impact factor: 14.808

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  3 in total

Review 1.  Druggable Sphingolipid Pathways: Experimental Models and Clinical Opportunities.

Authors:  Victoria A Blaho
Journal:  Adv Exp Med Biol       Date:  2020       Impact factor: 2.622

Review 2.  Recommendations on the measurement and the clinical use of vitamin D metabolites and vitamin D binding protein - A position paper from the IFCC Committee on bone metabolism.

Authors:  Konstantinos Makris; Harjit P Bhattoa; Etienne Cavalier; Karen Phinney; Christopher T Sempos; Candice Z Ulmer; Samuel D Vasikaran; Hubert Vesper; Annemieke C Heijboer
Journal:  Clin Chim Acta       Date:  2021-03-10       Impact factor: 6.314

3.  Consensus statement from 2nd International Conference on Controversies in Vitamin D.

Authors:  A Giustina; R A Adler; N Binkley; J Bollerslev; R Bouillon; B Dawson-Hughes; P R Ebeling; D Feldman; A M Formenti; M Lazaretti-Castro; C Marcocci; R Rizzoli; C T Sempos; J P Bilezikian
Journal:  Rev Endocr Metab Disord       Date:  2020-03       Impact factor: 6.514

  3 in total

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