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Items: 15

1.

Effects of alanine:glyoxylate aminotransferase variants and pyridoxine sensitivity on oxalate metabolism in a cell-based cytotoxicity assay.

Fargue S, Knight J, Holmes RP, Rumsby G, Danpure CJ.

Biochim Biophys Acta. 2016 Jun;1862(6):1055-62. doi: 10.1016/j.bbadis.2016.02.004. Epub 2016 Feb 6.

2.

Emerging novel concept of chaperone therapies for protein misfolding diseases.

Suzuki Y.

Proc Jpn Acad Ser B Phys Biol Sci. 2014;90(5):145-62. Review.

3.

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.

4.

Therapeutic potential of proteasome inhibitors in congenital erythropoietic porphyria.

Blouin JM, Duchartre Y, Costet P, Lalanne M, Ged C, Lain A, Millet O, de Verneuil H, Richard E.

Proc Natl Acad Sci U S A. 2013 Nov 5;110(45):18238-43. doi: 10.1073/pnas.1314177110. Epub 2013 Oct 21.

5.

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.

6.

Update on oxalate crystal disease.

Lorenz EC, Michet CJ, Milliner DS, Lieske JC.

Curr Rheumatol Rep. 2013 Jul;15(7):340. doi: 10.1007/s11926-013-0340-4. Review.

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.
9.

Rapid profiling of disease alleles using a tunable reporter of protein misfolding.

Pittman AM, Lage MD, Poltoratsky V, Vrana JD, Paiardini A, Roncador A, Cellini B, Hughes RM, Tucker CL.

Genetics. 2012 Nov;192(3):831-42. doi: 10.1534/genetics.112.143750. Epub 2012 Aug 24.

10.

Molecular requirements for peroxisomal targeting of alanine-glyoxylate aminotransferase as an essential determinant in primary hyperoxaluria type 1.

Fodor K, Wolf J, Erdmann R, Schliebs W, Wilmanns M.

PLoS Biol. 2012;10(4):e1001309. doi: 10.1371/journal.pbio.1001309. Epub 2012 Apr 17.

11.

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.

12.

Hydrogen/deuterium exchange- and protease digestion-based screening assay for protein-ligand binding detection.

Hopper ED, Pittman AM, Tucker CL, Campa MJ, Patz EF Jr, Fitzgerald MC.

Anal Chem. 2009 Aug 15;81(16):6860-7. doi: 10.1021/ac900854t.

13.

Thermolability of mutant MMACHC protein in the vitamin B12-responsive cblC disorder.

Froese DS, Healy S, McDonald M, Kochan G, Oppermann U, Niesen FH, Gravel RA.

Mol Genet Metab. 2010 May;100(1):29-36. doi: 10.1016/j.ymgme.2010.02.005. Epub 2010 Feb 15.

14.

Treating lysosomal storage diseases with pharmacological chaperones: from concept to clinics.

Parenti G.

EMBO Mol Med. 2009 Aug;1(5):268-79. doi: 10.1002/emmm.200900036. Review.

15.

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.

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