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Items: 10

1.

Rescue of cystathionine beta-synthase (CBS) mutants with chemical chaperones: purification and characterization of eight CBS mutant enzymes.

Majtan T, Liu L, Carpenter JF, Kraus JP.

J Biol Chem. 2010 May 21;285(21):15866-73. doi: 10.1074/jbc.M110.107722. Epub 2010 Mar 22.

2.

Targeting Cystathionine Beta-Synthase Misfolding in Homocystinuria by Small Ligands: State of the Art and Future Directions.

Majtan T, Pey AL, Ereño-Orbea J, Martínez-Cruz LA, Kraus JP.

Curr Drug Targets. 2016;17(13):1455-70. Review.

PMID:
26931358
3.

Cystathionine beta-synthase mutations in homocystinuria.

Kraus JP, Janosík M, Kozich V, Mandell R, Shih V, Sperandeo MP, Sebastio G, de Franchis R, Andria G, Kluijtmans LA, Blom H, Boers GH, Gordon RB, Kamoun P, Tsai MY, Kruger WD, Koch HG, Ohura T, Gaustadnes M.

Hum Mutat. 1999;13(5):362-75. Review.

PMID:
10338090
4.

Structural insights into mutations of cystathionine beta-synthase.

Meier M, Oliveriusova J, Kraus JP, Burkhard P.

Biochim Biophys Acta. 2003 Apr 11;1647(1-2):206-13. Review.

PMID:
12686134
5.

Komrower Lecture. Molecular basis of phenotype expression in homocystinuria.

Kraus JP.

J Inherit Metab Dis. 1994;17(4):383-90. Review.

PMID:
7967489
6.

The role of cystathionine beta-synthase in homocysteine metabolism.

Jhee KH, Kruger WD.

Antioxid Redox Signal. 2005 May-Jun;7(5-6):813-22. Review.

PMID:
15890029
7.

A revisit to the natural history of homocystinuria due to cystathionine beta-synthase deficiency.

Skovby F, Gaustadnes M, Mudd SH.

Mol Genet Metab. 2010 Jan;99(1):1-3. doi: 10.1016/j.ymgme.2009.09.009. Review.

8.

The CBS domain: a protein module with an emerging prominent role in regulation.

Baykov AA, Tuominen HK, Lahti R.

ACS Chem Biol. 2011 Nov 18;6(11):1156-63. doi: 10.1021/cb200231c. Epub 2011 Oct 11. Review.

PMID:
21958115
9.

Recent advances in the mechanism of pyridoxine-responsive disorders.

Fowler B.

J Inherit Metab Dis. 1985;8 Suppl 1:76-83. Review.

PMID:
3930845
10.

Enzymes Regulated via Cystathionine β-Synthase Domains.

Anashkin VA, Baykov AA, Lahti R.

Biochemistry (Mosc). 2017 Oct;82(10):1079-1087. doi: 10.1134/S0006297917100017. Review.

PMID:
29037129

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