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Items: 1 to 20 of 139

1.

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.

2.

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
3.

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

Oppici E, Fargue S, Reid ES, Mills PB, Clayton PT, Danpure CJ, Cellini B.

Hum Mol Genet. 2015 Oct 1;24(19):5500-11. doi: 10.1093/hmg/ddv276. Epub 2015 Jul 21.

PMID:
26199318
4.

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.

5.

Liver peroxisomal alanine:glyoxylate aminotransferase and the effects of mutations associated with Primary Hyperoxaluria Type I: An overview.

Oppici E, Montioli R, Cellini B.

Biochim Biophys Acta. 2015 Sep;1854(9):1212-9. doi: 10.1016/j.bbapap.2014.12.029. Epub 2015 Jan 22. Review.

PMID:
25620715
7.

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.

8.

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.

9.

Protein homeostasis defects of alanine-glyoxylate aminotransferase: new therapeutic strategies in primary hyperoxaluria type I.

Pey AL, Albert A, Salido E.

Biomed Res Int. 2013;2013:687658. doi: 10.1155/2013/687658. Epub 2013 Jul 16. Review.

10.

The role of protein denaturation energetics and molecular chaperones in the aggregation and mistargeting of mutants causing primary hyperoxaluria type I.

Mesa-Torres N, Fabelo-Rosa I, Riverol D, Yunta C, Albert A, Salido E, Pey AL.

PLoS One. 2013 Aug 27;8(8):e71963. doi: 10.1371/journal.pone.0071963. eCollection 2013.

11.

The Chaperoning Activity of Amino-oxyacetic Acid on Folding-Defective Variants of Human Alanine:Glyoxylate Aminotransferase Causing Primary Hyperoxaluria Type I.

Oppici E, Montioli R, Dindo M, Maccari L, Porcari V, Lorenzetto A, Chellini S, Voltattorni CB, Cellini B.

ACS Chem Biol. 2015 Oct 16;10(10):2227-36. doi: 10.1021/acschembio.5b00480. Epub 2015 Jul 27.

PMID:
26161999
13.

Molecular insights into primary hyperoxaluria type 1 pathogenesis.

Cellini B, Oppici E, Paiardini A, Montioli R.

Front Biosci (Landmark Ed). 2012 Jan 1;17:621-34. Review.

PMID:
22201765
14.

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.

15.

S81L and G170R mutations causing Primary Hyperoxaluria type I in homozygosis and heterozygosis: an example of positive interallelic complementation.

Montioli R, Roncador A, Oppici E, Mandrile G, Giachino DF, Cellini B, Borri Voltattorni C.

Hum Mol Genet. 2014 Nov 15;23(22):5998-6007. doi: 10.1093/hmg/ddu329. Epub 2014 Jul 2.

16.

Allele-specific characterization of alanine: glyoxylate aminotransferase variants associated with primary hyperoxaluria.

Lage MD, Pittman AM, Roncador A, Cellini B, Tucker CL.

PLoS One. 2014 Apr 9;9(4):e94338. doi: 10.1371/journal.pone.0094338. eCollection 2014.

17.
18.

Molecular defects of the glycine 41 variants of alanine glyoxylate aminotransferase associated with primary hyperoxaluria type I.

Cellini B, Montioli R, Paiardini A, Lorenzetto A, Maset F, Bellini T, Oppici E, Voltattorni CB.

Proc Natl Acad Sci U S A. 2010 Feb 16;107(7):2896-901. doi: 10.1073/pnas.0908565107. Epub 2010 Feb 1.

19.

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.

20.

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

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