402 related articles for article (PubMed ID: 15972722)
1. 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]
2. 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]
3. Betaine supplementation is less effective than methionine restriction in correcting phenotypes of CBS deficient mice.
Gupta S; Wang L; Kruger WD
J Inherit Metab Dis; 2016 Jan; 39(1):39-46. PubMed ID: 26231230
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. 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]
6. Contrasting behaviors of mutant cystathionine beta-synthase enzymes associated with pyridoxine response.
Chen X; Wang L; Fazlieva R; Kruger WD
Hum Mutat; 2006 May; 27(5):474-82. PubMed ID: 16619244
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Mouse models of cystathionine beta-synthase deficiency reveal significant threshold effects of hyperhomocysteinemia.
Gupta S; Kühnisch J; Mustafa A; Lhotak S; Schlachterman A; Slifker MJ; Klein-Szanto A; High KA; Austin RC; Kruger WD
FASEB J; 2009 Mar; 23(3):883-93. PubMed ID: 18987302
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. 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]
12. Behavior, body composition, and vascular phenotype of homocystinuric mice on methionine-restricted diet or enzyme replacement therapy.
Majtan T; Park I; Cox A; Branchford BR; di Paola J; Bublil EM; Kraus JP
FASEB J; 2019 Nov; 33(11):12477-12486. PubMed ID: 31450979
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. 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]
16. High prevalence of cerebral venous sinus thrombosis (CVST) as presentation of cystathionine beta-synthase deficiency in childhood: molecular and clinical findings of Turkish probands.
Karaca M; Hismi B; Ozgul RK; Karaca S; Yilmaz DY; Coskun T; Sivri HS; Tokatli A; Dursun A
Gene; 2014 Jan; 534(2):197-203. PubMed ID: 24211323
[TBL] [Abstract][Full Text] [Related]
17. The role of cystathionine beta-synthase in homocysteine metabolism.
Jhee KH; Kruger WD
Antioxid Redox Signal; 2005; 7(5-6):813-22. PubMed ID: 15890029
[TBL] [Abstract][Full Text] [Related]
18. Modulation of cystathionine beta-synthase level regulates total serum homocysteine in mice.
Wang L; Jhee KH; Hua X; DiBello PM; Jacobsen DW; Kruger WD
Circ Res; 2004 May; 94(10):1318-24. PubMed ID: 15105297
[TBL] [Abstract][Full Text] [Related]
19. N-Homocysteinylation impairs collagen cross-linking in cystathionine β-synthase-deficient mice: a novel mechanism of connective tissue abnormalities.
Perła-Kajan J; Utyro O; Rusek M; Malinowska A; Sitkiewicz E; Jakubowski H
FASEB J; 2016 Nov; 30(11):3810-3821. PubMed ID: 27530978
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]