Correlation between the molecular effects of mutations at the dimer interface of alanine–glyoxylate aminotransferase leading to primary hyperoxaluria type I and the cellular response to vitamin B6-Reference-Cited by-同舟云学术

Correlation between the molecular effects of mutations at the dimer interface of alanine–glyoxylate aminotransferase leading to primary hyperoxaluria type I and the cellular response to vitamin B6

Published:2017-11-06 Issue:2 Volume:41 Page:263-275
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Dindo Mirco,Oppici Elisa,Dell’Orco Daniele,Montone Rosa,Cellini Barbara^ORCID

Funder

Oxalosis and Hyperoxaluria Foundation

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/article/10.1007/s10545-017-0105-8/fulltext.html

Reference38 articles.

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2. Cellini B, Bertoldi M, Montioli R, Paiardini A, Borri Voltattorni C (2007) Human wild-type alanine:glyoxylate aminotransferase and its naturally occurring G82E variant: functional properties and physiological implications. Biochem J 408(1):39–50. https://doi.org/10.1042/BJ20070637

3. Cellini B, Lorenzetto A, Montioli R, Oppici E, Voltattorni CB (2010) Human liver peroxisomal alanine:glyoxylate aminotransferase: different stability under chemical stress of the major allele, the minor allele, and its pathogenic G170R variant. Biochimie 92(12):1801–1811. https://doi.org/10.1016/j.biochi.2010.08.005

4. Cellini B, Montioli R, Bianconi S, Lopez-Alonso JP, Voltattorni CB (2008) Construction, purification and characterization of untagged human liver alanine-glyoxylate aminotransferase expressed in Escherichia Coli. Protein Peptide Lett 15(2):153–159

5. Cellini B, Montioli R, Oppici E, Astegno A, Voltattorni CB (2013) The chaperone role of the pyridoxal 5′-phosphate and its implications for rare diseases involving B6-dependent enzymes. Clin Biochem. https://doi.org/10.1016/j.clinbiochem.2013.11.021

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