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Results: 1 to 20 of 24

Cited In for PubMed (Select 20308073)

1.

Probing the kinetic stabilities of Friedreich's ataxia clinical variants using a solid phase GroEL chaperonin capture platform.

Correia AR, Naik S, Fisher MT, Gomes CM.

Biomolecules. 2014 Oct 20;4(4):956-79. doi: 10.3390/biom4040956.

2.

Compromised catalysis and potential folding defects in in vitro studies of missense mutants associated with hereditary phosphoglucomutase 1 deficiency.

Lee Y, Stiers KM, Kain BN, Beamer LJ.

J Biol Chem. 2014 Nov 14;289(46):32010-9. doi: 10.1074/jbc.M114.597914. Epub 2014 Oct 6.

PMID:
25288802
3.

Structural insight into the molecular mechanism of allosteric activation of human cystathionine β-synthase by S-adenosylmethionine.

Ereño-Orbea J, Majtan T, Oyenarte I, Kraus JP, Martínez-Cruz LA.

Proc Natl Acad Sci U S A. 2014 Sep 16;111(37):E3845-52. doi: 10.1073/pnas.1414545111. Epub 2014 Sep 2.

4.

Functional characterization and categorization of missense mutations that cause methylmalonyl-CoA mutase (MUT) deficiency.

Forny P, Froese DS, Suormala T, Yue WW, Baumgartner MR.

Hum Mutat. 2014 Dec;35(12):1449-58. doi: 10.1002/humu.22633.

5.

Domain organization, catalysis and regulation of eukaryotic cystathionine beta-synthases.

Majtan T, Pey AL, Fernández R, Fernández JA, Martínez-Cruz LA, Kraus JP.

PLoS One. 2014 Aug 14;9(8):e105290. doi: 10.1371/journal.pone.0105290. eCollection 2014.

6.

Protein Stability, Folding and Misfolding in Human PGK1 Deficiency.

Valentini G, Maggi M, Pey AL.

Biomolecules. 2013 Dec 18;3(4):1030-52. doi: 10.3390/biom3041030.

7.

S-glutathionylation enhances human cystathionine β-synthase activity under oxidative stress conditions.

Niu WN, Yadav PK, Adamec J, Banerjee R.

Antioxid Redox Signal. 2015 Feb 10;22(5):350-61. doi: 10.1089/ars.2014.5891. Epub 2014 Jul 29.

8.

The role of surface electrostatics on the stability, function and regulation of human cystathionine β-synthase, a complex multidomain and oligomeric protein.

Pey AL, Majtan T, Kraus JP.

Biochim Biophys Acta. 2014 Sep;1844(9):1453-62. doi: 10.1016/j.bbapap.2014.04.015. Epub 2014 Apr 26.

PMID:
24780582
9.

Purification, crystallization and preliminary crystallographic analysis of the catalytic core of cystathionine β-synthase from Saccharomyces cerevisiae.

Ereño-Orbea J, Majtan T, Oyenarte I, Kraus JP, Martínez-Cruz LA.

Acta Crystallogr F Struct Biol Commun. 2014 Mar;70(Pt 3):320-5. doi: 10.1107/S2053230X14001502. Epub 2014 Feb 19.

10.

Transitioning pharmacoperones to therapeutic use: in vivo proof-of-principle and design of high throughput screens.

Conn PM, Smithson DC, Hodder PS, Stewart MD, Behringer RR, Smith E, Ulloa-Aguirre A, Janovick JA.

Pharmacol Res. 2014 May;83:38-51. doi: 10.1016/j.phrs.2013.12.004. Epub 2013 Dec 25. Review.

11.

Structural basis of regulation and oligomerization of human cystathionine β-synthase, the central enzyme of transsulfuration.

Ereño-Orbea J, Majtan T, Oyenarte I, Kraus JP, Martínez-Cruz LA.

Proc Natl Acad Sci U S A. 2013 Oct 1;110(40):E3790-9. doi: 10.1073/pnas.1313683110. Epub 2013 Sep 16.

12.

Characterization of two pathogenic mutations in cystathionine beta-synthase: different intracellular locations for wild-type and mutant proteins.

Casique L, Kabil O, Banerjee R, Martinez JC, De Lucca M.

Gene. 2013 Nov 15;531(1):117-24. doi: 10.1016/j.gene.2013.08.021. Epub 2013 Aug 24.

13.

Mono and dual cofactor dependence of human cystathionine β-synthase enzyme variants in vivo and in vitro.

Dimster-Denk D, Tripp KW, Marini NJ, Marqusee S, Rine J.

G3 (Bethesda). 2013 Oct 3;3(10):1619-28. doi: 10.1534/g3.113.006916.

14.

Metabolic profiling of total homocysteine and related compounds in hyperhomocysteinemia: utility and limitations in diagnosing the cause of puzzling thrombophilia in a family.

Stabler SP, Korson M, Jethva R, Allen RH, Kraus JP, Spector EB, Wagner C, Mudd SH.

JIMD Rep. 2013;11:149-63. doi: 10.1007/8904_2013_235. Epub 2013 Jun 4.

15.

Correction of cystathionine β-synthase deficiency in mice by treatment with proteasome inhibitors.

Gupta S, Wang L, Anderl J, Slifker MJ, Kirk C, Kruger WD.

Hum Mutat. 2013 Aug;34(8):1085-93. doi: 10.1002/humu.22335. Epub 2013 May 13.

16.

In vivo detection and quantification of chemicals that enhance protein stability.

Hailu TT, Foit L, Bardwell JC.

Anal Biochem. 2013 Mar 1;434(1):181-6. doi: 10.1016/j.ab.2012.11.022. Epub 2012 Dec 5.

17.

Purification, crystallization and preliminary crystallographic analysis of human cystathionine β-synthase.

Oyenarte I, Majtan T, Ereño J, Corral-Rodríguez MA, Kraus JP, Martínez-Cruz LA.

Acta Crystallogr Sect F Struct Biol Cryst Commun. 2012 Nov 1;68(Pt 11):1318-22. doi: 10.1107/S1744309112037219. Epub 2012 Oct 30.

18.

Conformational properties of nine purified cystathionine β-synthase mutants.

Hnízda A, Majtan T, Liu L, Pey AL, Carpenter JF, Kodíček M, Kožich V, Kraus JP.

Biochemistry. 2012 Jun 12;51(23):4755-63. doi: 10.1021/bi300435e. Epub 2012 May 30. Erratum in: Biochemistry. 2012 Jul 10;51(27):5540.

19.
20.

Surrogate genetics and metabolic profiling for characterization of human disease alleles.

Mayfield JA, Davies MW, Dimster-Denk D, Pleskac N, McCarthy S, Boydston EA, Fink L, Lin XX, Narain AS, Meighan M, Rine J.

Genetics. 2012 Apr;190(4):1309-23. doi: 10.1534/genetics.111.137471. Epub 2012 Jan 20. Erratum in: Genetics. 2012 Oct;192(2):759-60.

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