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Items: 12

1.

Cystathionine beta-synthase mutations: effect of mutation topology on folding and activity.

Kozich V, Sokolová J, Klatovská V, Krijt J, Janosík M, Jelínek K, Kraus JP.

Hum Mutat. 2010 Jul;31(7):809-19. doi: 10.1002/humu.21273.

2.

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
3.

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
4.

Cystathionine beta-synthase: structure, function, regulation, and location of homocystinuria-causing mutations.

Miles EW, Kraus JP.

J Biol Chem. 2004 Jul 16;279(29):29871-4. Epub 2004 Apr 15. Review. No abstract available.

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.

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
7.

Biochemistry and molecular genetics of cystathionine beta-synthase deficiency.

Kraus JP.

Eur J Pediatr. 1998 Apr;157 Suppl 2:S50-3. Review.

PMID:
9587026
8.

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.

9.

Clinical aspects of cystathionine beta-synthase deficiency: how wide is the spectrum? The Italian Collaborative Study Group on Homocystinuria.

De Franchis R, Sperandeo MP, Sebastio G, Andria G.

Eur J Pediatr. 1998 Apr;157 Suppl 2:S67-70. Review.

PMID:
9587029
10.

CBS domains: structure, function, and pathology in human proteins.

Ignoul S, Eggermont J.

Am J Physiol Cell Physiol. 2005 Dec;289(6):C1369-78. Review.

11.

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
12.

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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