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Items: 1 to 20 of 117

1.

The N-terminal extension is essential for the formation of the active dimeric structure of liver peroxisomal alanine:glyoxylate aminotransferase.

Montioli R, Fargue S, Lewin J, Zamparelli C, Danpure CJ, Borri Voltattorni C, Cellini B.

Int J Biochem Cell Biol. 2012 Mar;44(3):536-46. doi: 10.1016/j.biocel.2011.12.007. Epub 2011 Dec 19.

PMID:
22198249
2.

Gly161 mutations associated with Primary Hyperoxaluria Type I induce the cytosolic aggregation and the intracellular degradation of the apo-form of alanine:glyoxylate aminotransferase.

Oppici E, Roncador A, Montioli R, Bianconi S, Cellini B.

Biochim Biophys Acta. 2013 Dec;1832(12):2277-88. doi: 10.1016/j.bbadis.2013.09.002. Epub 2013 Sep 17.

5.

Misfolding caused by the pathogenic mutation G47R on the minor allele of alanine:glyoxylate aminotransferase and chaperoning activity of pyridoxine.

Montioli R, Oppici E, Dindo M, Roncador A, Gotte G, Cellini B, Borri Voltattorni C.

Biochim Biophys Acta. 2015 Oct;1854(10 Pt A):1280-9. doi: 10.1016/j.bbapap.2015.07.002. Epub 2015 Jul 3.

PMID:
26149463
6.

Crystal structure of the S187F variant of human liver alanine: glyoxylate [corrected] aminotransferase associated with primary hyperoxaluria type I and its functional implications.

Oppici E, Fodor K, Paiardini A, Williams C, Voltattorni CB, Wilmanns M, Cellini B.

Proteins. 2013 Aug;81(8):1457-65. doi: 10.1002/prot.24300. Epub 2013 Jun 1. Erratum in: Proteins. 2014 Jan;82(1):171.

7.
8.

Enzymological and mutational analysis of a complex primary hyperoxaluria type 1 phenotype involving alanine:glyoxylate aminotransferase peroxisome-to-mitochondrion mistargeting and intraperoxisomal aggregation.

Danpure CJ, Purdue PE, Fryer P, Griffiths S, Allsop J, Lumb MJ, Guttridge KM, Jennings PR, Scheinman JI, Mauer SM, et al.

Am J Hum Genet. 1993 Aug;53(2):417-32.

10.

Human wild-type alanine:glyoxylate aminotransferase and its naturally occurring G82E variant: functional properties and physiological implications.

Cellini B, Bertoldi M, Montioli R, Paiardini A, Borri Voltattorni C.

Biochem J. 2007 Nov 15;408(1):39-50.

11.

Primary hyperoxaluria type 1: genotypic and phenotypic heterogeneity.

Danpure CJ, Jennings PR, Fryer P, Purdue PE, Allsop J.

J Inherit Metab Dis. 1994;17(4):487-99. Review.

PMID:
7967498
12.

Construction, purification and characterization of untagged human liver alanine-glyoxylate aminotransferase expressed in Escherichia coli.

Cellini B, Montioli R, Bianconi S, López-Alonso JP, Voltattorni CB.

Protein Pept Lett. 2008;15(2):153-9.

PMID:
18289107
13.

Molecular Insight into the Synergism between the Minor Allele of Human Liver Peroxisomal Alanine:Glyoxylate Aminotransferase and the F152I Mutation.

Cellini B, Montioli R, Paiardini A, Lorenzetto A, Voltattorni CB.

J Biol Chem. 2009 Mar 27;284(13):8349-58. doi: 10.1074/jbc.M808965200. Epub 2009 Jan 20.

15.

Alanine:glyoxylate aminotransferase peroxisome-to-mitochondrion mistargeting in human hereditary kidney stone disease.

Danpure CJ, Lumb MJ, Birdsey GM, Zhang X.

Biochim Biophys Acta. 2003 Apr 11;1647(1-2):70-5. Review.

PMID:
12686111
16.
17.

Structural implications of a G170R mutation of alanine:glyoxylate aminotransferase that is associated with peroxisome-to-mitochondrion mistargeting.

Djordjevic S, Zhang X, Bartlam M, Ye S, Rao Z, Danpure CJ.

Acta Crystallogr Sect F Struct Biol Cryst Commun. 2010 Mar 1;66(Pt 3):233-6. doi: 10.1107/S1744309109054645. Epub 2010 Feb 23.

18.

Human liver peroxisomal alanine:glyoxylate aminotransferase: Different stability under chemical stress of the major allele, the minor allele, and its pathogenic G170R variant.

Cellini B, Lorenzetto A, Montioli R, Oppici E, Voltattorni CB.

Biochimie. 2010 Dec;92(12):1801-11. doi: 10.1016/j.biochi.2010.08.005. Epub 2010 Aug 14.

PMID:
20713123
19.

Biochemical analyses are instrumental in identifying the impact of mutations on holo and/or apo-forms and on the region(s) of alanine:glyoxylate aminotransferase variants associated with primary hyperoxaluria type I.

Oppici E, Montioli R, Lorenzetto A, Bianconi S, Borri Voltattorni C, Cellini B.

Mol Genet Metab. 2012 Jan;105(1):132-40. doi: 10.1016/j.ymgme.2011.09.033. Epub 2011 Oct 5.

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