Pyridoxamine and pyridoxal are more effective than pyridoxine in rescuing folding-defective variants of human alanine:glyoxylate aminotransferase causing primary hyperoxaluria type I-Reference-Cited by-同舟云学术

Pyridoxamine and pyridoxal are more effective than pyridoxine in rescuing folding-defective variants of human alanine:glyoxylate aminotransferase causing primary hyperoxaluria type I

Published:2015-07-21 Issue:19 Volume:24 Page:5500-5511
ISSN:0964-6906
Container-title:Human Molecular Genetics
language:en
Short-container-title:Hum. Mol. Genet.

Author:

Oppici Elisa,Fargue Sonia,Reid Emma S.,Mills Philippa B.,Clayton Peter T.,Danpure Christopher J.,Cellini Barbara

Funder

Oxalosis and Hyperoxaluria Foundation

Great Ormond Street Children's Charity

Publisher

Oxford University Press (OUP)

Subject

Genetics(clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/24/19/5500/13931490/ddv276.pdf

Reference40 articles.

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5. The chaperone role of the pyridoxal 5′-phosphate and its implications for rare diseases involving B6-dependent enzymes;Cellini;Clin. Biochem.,2014

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