290 related articles for article (PubMed ID: 30030379)
1. Mouse modeling and structural analysis of the p.G307S mutation in human cystathionine β-synthase (
Gupta S; Kelow S; Wang L; Andrake MD; Dunbrack RL; Kruger WD
J Biol Chem; 2018 Sep; 293(36):13921-13931. PubMed ID: 30030379
[TBL] [Abstract][Full Text] [Related]
2. The c.797 G>A (p.R266K) cystathionine β-synthase mutation causes homocystinuria by affecting protein stability.
Gupta S; Wang L; Kruger WD
Hum Mutat; 2017 Jul; 38(7):863-869. PubMed ID: 28488385
[TBL] [Abstract][Full Text] [Related]
3. Analysis of the Qatari R336C cystathionine β-synthase protein in mice.
Gupta S; Gallego-Villar L; Wang L; Lee HO; Nasrallah G; Al-Dewik N; Häberle J; Thöny B; Blom HJ; Ben-Omran T; Kruger WD
J Inherit Metab Dis; 2019 Sep; 42(5):831-838. PubMed ID: 31240737
[TBL] [Abstract][Full Text] [Related]
4. Analysis of differential neonatal lethality in cystathionine β-synthase deficient mouse models using metabolic profiling.
Gupta S; Wang L; Slifker MJ; Cai KQ; Maclean KN; Wasek B; Bottiglieri T; Kruger WD
FASEB J; 2021 Jun; 35(6):e21629. PubMed ID: 33949005
[TBL] [Abstract][Full Text] [Related]
5. 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. PubMed ID: 10338090
[TBL] [Abstract][Full Text] [Related]
6. 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. PubMed ID: 23592311
[TBL] [Abstract][Full Text] [Related]
7. Molecular basis of cystathionine beta-synthase deficiency in pyridoxine responsive and nonresponsive homocystinuria.
Hu FL; Gu Z; Kozich V; Kraus JP; Ramesh V; Shih VE
Hum Mol Genet; 1993 Nov; 2(11):1857-60. PubMed ID: 7506602
[TBL] [Abstract][Full Text] [Related]
8. Variable hyperhomocysteinaemia phenotype in heterozygotes for the Gly307Ser mutation in cystathionine beta-synthase.
Dawson PA; Cochran DA; Emmerson BT; Kraus JP; Dudman NP; Gordon RB
Aust N Z J Med; 1996 Apr; 26(2):180-5. PubMed ID: 8744616
[TBL] [Abstract][Full Text] [Related]
9. 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. PubMed ID: 26931358
[TBL] [Abstract][Full Text] [Related]
10. Examination of two different proteasome inhibitors in reactivating mutant human cystathionine β-synthase in mice.
Gupta S; Lee HO; Wang L; Kruger WD
PLoS One; 2023; 18(6):e0286550. PubMed ID: 37319242
[TBL] [Abstract][Full Text] [Related]
11. Expression of mutant human cystathionine beta-synthase rescues neonatal lethality but not homocystinuria in a mouse model.
Wang L; Chen X; Tang B; Hua X; Klein-Szanto A; Kruger WD
Hum Mol Genet; 2005 Aug; 14(15):2201-8. PubMed ID: 15972722
[TBL] [Abstract][Full Text] [Related]
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; 531(1):117-24. PubMed ID: 23981774
[TBL] [Abstract][Full Text] [Related]
13. Potential Pharmacological Chaperones for Cystathionine Beta-Synthase-Deficient Homocystinuria.
Majtan T; Pey AL; Gimenez-Mascarell P; Martínez-Cruz LA; Szabo C; Kožich V; Kraus JP
Handb Exp Pharmacol; 2018; 245():345-383. PubMed ID: 29119254
[TBL] [Abstract][Full Text] [Related]
14. Activation of mutant enzyme function in vivo by proteasome inhibitors and treatments that induce Hsp70.
Singh LR; Gupta S; Honig NH; Kraus JP; Kruger WD
PLoS Genet; 2010 Jan; 6(1):e1000807. PubMed ID: 20066033
[TBL] [Abstract][Full Text] [Related]
15. In silico and in vivo models for Qatari-specific classical homocystinuria as basis for development of novel therapies.
Ismail HM; Krishnamoorthy N; Al-Dewik N; Zayed H; Mohamed NA; Giacomo VD; Gupta S; Häberle J; Thöny B; Blom HJ; Kruger WD; Ben-Omran T; Nasrallah GK
Hum Mutat; 2019 Feb; 40(2):230-240. PubMed ID: 30408270
[TBL] [Abstract][Full Text] [Related]
16. Four novel mutations in the cystathionine beta-synthase gene: effect of a second linked mutation on the severity of the homocystinuric phenotype.
de Franchis R; Kraus E; Kozich V; Sebastio G; Kraus JP
Hum Mutat; 1999; 13(6):453-7. PubMed ID: 10408774
[TBL] [Abstract][Full Text] [Related]
17. Cystathionine β-synthase deficiency: Of mice and men.
Kruger WD
Mol Genet Metab; 2017 Jul; 121(3):199-205. PubMed ID: 28583326
[TBL] [Abstract][Full Text] [Related]
18. Characterisation of five missense mutations in the cystathionine beta-synthase gene from three patients with B6-nonresponsive homocystinuria.
Dawson PA; Cox AJ; Emmerson BT; Dudman NP; Kraus JP; Gordon RB
Eur J Hum Genet; 1997; 5(1):15-21. PubMed ID: 9156316
[TBL] [Abstract][Full Text] [Related]
19. The molecular basis of homocystinuria due to cystathionine beta-synthase deficiency in Italian families, and report of four novel mutations.
Sebastio G; Sperandeo MP; Panico M; de Franchis R; Kraus JP; Andria G
Am J Hum Genet; 1995 Jun; 56(6):1324-33. PubMed ID: 7762555
[TBL] [Abstract][Full Text] [Related]
20. Cystathionine beta-synthase p.S466L mutation causes hyperhomocysteinemia in mice.
Gupta S; Wang L; Hua X; Krijt J; Kozich V; Kruger WD
Hum Mutat; 2008 Aug; 29(8):1048-54. PubMed ID: 18454451
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
