218 related articles for article (PubMed ID: 23592311)
1. 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]
2. 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]
3. 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]
4. 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]
5. 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]
6. 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]
7. 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]
8. 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]
9. Genetic and Pharmacological Modulation of Cellular Proteostasis Leads to Partial Functional Rescue of Homocystinuria-Causing Cystathionine-Beta Synthase Variants.
Collard R; Majtan T
Mol Cell Biol; 2023; 43(12):664-674. PubMed ID: 38051092
[TBL] [Abstract][Full Text] [Related]
10. 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; 285(21):15866-73. PubMed ID: 20308073
[TBL] [Abstract][Full Text] [Related]
11. Long-term functional correction of cystathionine β-synthase deficiency in mice by adeno-associated viral gene therapy.
Lee HO; Salami CO; Sondhi D; Kaminsky SM; Crystal RG; Kruger WD
J Inherit Metab Dis; 2021 Nov; 44(6):1382-1392. PubMed ID: 34528713
[TBL] [Abstract][Full Text] [Related]
12. Treatment of Cystathionine β-Synthase Deficiency in Mice Using a Minicircle-Based Naked DNA Vector.
Lee HO; Gallego-Villar L; Grisch-Chan HM; Häberle J; Thöny B; Kruger WD
Hum Gene Ther; 2019 Sep; 30(9):1093-1100. PubMed ID: 31084364
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. High homocysteine and thrombosis without connective tissue disorders are associated with a novel class of cystathionine beta-synthase (CBS) mutations.
Maclean KN; Gaustadnes M; Oliveriusová J; Janosík M; Kraus E; Kozich V; Kery V; Skovby F; Rüdiger N; Ingerslev J; Stabler SP; Allen RH; Kraus JP
Hum Mutat; 2002 Jun; 19(6):641-55. PubMed ID: 12007221
[TBL] [Abstract][Full Text] [Related]
16. 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]
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. The effect of dietary modulation of sulfur amino acids on cystathionine β synthase-deficient mice.
Kruger WD; Gupta S
Ann N Y Acad Sci; 2016 Jan; 1363(1):80-90. PubMed ID: 26599618
[TBL] [Abstract][Full Text] [Related]
19. How to fix a broken protein: restoring function to mutant human cystathionine β-synthase.
Kruger WD
Hum Genet; 2022 Jul; 141(7):1299-1308. PubMed ID: 34636997
[TBL] [Abstract][Full Text] [Related]
20. Mutations in the regulatory domain of cystathionine beta synthase can functionally suppress patient-derived mutations in cis.
Shan X; Dunbrack RL; Christopher SA; Kruger WD
Hum Mol Genet; 2001 Mar; 10(6):635-43. PubMed ID: 11230183
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
