161 related articles for article (PubMed ID: 12574942)
1. Genomic basis of cystathioninuria (MIM 219500) revealed by multiple mutations in cystathionine gamma-lyase (CTH).
Wang J; Hegele RA
Hum Genet; 2003 Apr; 112(4):404-8. PubMed ID: 12574942
[TBL] [Abstract][Full Text] [Related]
2. Single nucleotide polymorphism in CTH associated with variation in plasma homocysteine concentration.
Wang J; Huff AM; Spence JD; Hegele RA
Clin Genet; 2004 Jun; 65(6):483-6. PubMed ID: 15151507
[TBL] [Abstract][Full Text] [Related]
3. Cystathionase deficiency: evidence for genetic heterogeneity in primary cystathioninuria.
Pascal TA; Gaull GE; Beratis NG; Gillam BM; Tallan HH
Pediatr Res; 1978 Feb; 12(2):125-33. PubMed ID: 417288
[No Abstract] [Full Text] [Related]
4. Ancient origin of the CTH alelle carrying the c.200C>T (p.T67I) variant in patients with cystathioninuria.
Espinós C; García-Cazorla A; Martínez-Rubio D; Martínez-Martínez E; Vilaseca MA; Pérez-Dueñas B; Kožich V; Palau F; Artuch R
Clin Genet; 2010 Dec; 78(6):554-9. PubMed ID: 20584029
[TBL] [Abstract][Full Text] [Related]
5. Novel mutation in DGUOK in hepatocerebral mitochondrial DNA depletion syndrome associated with cystathioninuria.
Tadiboyina VT; Rupar A; Atkison P; Feigenbaum A; Kronick J; Wang J; Hegele RA
Am J Med Genet A; 2005 Jun; 135(3):289-91. PubMed ID: 15887277
[TBL] [Abstract][Full Text] [Related]
6. Cystathionine gamma-lyase: Clinical, metabolic, genetic, and structural studies.
Kraus JP; Hasek J; Kozich V; Collard R; Venezia S; Janosíková B; Wang J; Stabler SP; Allen RH; Jakobs C; Finn CT; Chien YH; Hwu WL; Hegele RA; Mudd SH
Mol Genet Metab; 2009 Aug; 97(4):250-9. PubMed ID: 19428278
[TBL] [Abstract][Full Text] [Related]
7. Vitamin B6-responsive and -unresponsive cystathioninuria: two variant molecular forms.
Pascal TA; Gaull GE; Beratis NG; Gillam BM; Tallan HH; Hirschhorn K
Science; 1975 Dec; 190(4220):1209-11. PubMed ID: 1198108
[TBL] [Abstract][Full Text] [Related]
8. Kinetic properties of polymorphic variants and pathogenic mutants in human cystathionine gamma-lyase.
Zhu W; Lin A; Banerjee R
Biochemistry; 2008 Jun; 47(23):6226-32. PubMed ID: 18476726
[TBL] [Abstract][Full Text] [Related]
9. Cystathionase deficiency in fibroblast cultures from a patient with primary cystathioninuria.
Bittles AH; Carson NA
J Med Genet; 1974 Jun; 11(2):121-2. PubMed ID: 4841081
[No Abstract] [Full Text] [Related]
10. Methionine excess in diet induces acute lethal hepatitis in mice lacking cystathionine γ-lyase, an animal model of cystathioninuria.
Yamada H; Akahoshi N; Kamata S; Hagiya Y; Hishiki T; Nagahata Y; Matsuura T; Takano N; Mori M; Ishizaki Y; Izumi T; Kumagai Y; Kasahara T; Suematsu M; Ishii I
Free Radic Biol Med; 2012 May; 52(9):1716-26. PubMed ID: 22387178
[TBL] [Abstract][Full Text] [Related]
11. Cystathionine gamma-Lyase-deficient mice require dietary cysteine to protect against acute lethal myopathy and oxidative injury.
Ishii I; Akahoshi N; Yamada H; Nakano S; Izumi T; Suematsu M
J Biol Chem; 2010 Aug; 285(34):26358-68. PubMed ID: 20566639
[TBL] [Abstract][Full Text] [Related]
12. Cystathioninuria and homocystinuria.
Levy HL; Mudd SH; Uhlendorf BW; Madigan PM
Clin Chim Acta; 1975 Jan; 58(1):51-9. PubMed ID: 1122632
[TBL] [Abstract][Full Text] [Related]
13. A role for glutamate-333 of Saccharomyces cerevisiae cystathionine γ-lyase as a determinant of specificity.
Hopwood EM; Ahmed D; Aitken SM
Biochim Biophys Acta; 2014 Feb; 1844(2):465-72. PubMed ID: 24291053
[TBL] [Abstract][Full Text] [Related]
14. [Cystathionine γ-lyase].
Jurkowska H; Kaczor-Kamińska M; Bronowicka-Adamska P; Wróbel M
Postepy Hig Med Dosw (Online); 2014 Jan; 68():1-9. PubMed ID: 24491890
[TBL] [Abstract][Full Text] [Related]
15. Preeclampsia-Like Features and Partial Lactation Failure in Mice Lacking Cystathionine γ-Lyase-An Animal Model of Cystathioninuria.
Akahoshi N; Handa H; Takemoto R; Kamata S; Yoshida M; Onaka T; Ishii I
Int J Mol Sci; 2019 Jul; 20(14):. PubMed ID: 31319489
[TBL] [Abstract][Full Text] [Related]
16. Primary cystathioninuria in an infant born out of incest.
Hyánek J; Hoza J; Seemanová E
Acta Univ Carol Med Monogr; 1977; (79 Pt 3):39-44. PubMed ID: 615480
[TBL] [Abstract][Full Text] [Related]
17. [Secondary cystathioninuria due to vitamin B 6 deficiency in familial neuroblastoma].
Plöchl E
Padiatr Padol; 1976; 11(2-2):444-68. PubMed ID: 967508
[TBL] [Abstract][Full Text] [Related]
18. Functional promoter polymorphisms direct the expression of cystathionine gamma-lyase gene in mouse models of essential hypertension.
Gupta V; Kapopara PR; Khan AA; Arige V; Subramanian L; Sonawane PJ; Sasi BK; Mahapatra NR
J Mol Cell Cardiol; 2017 Jan; 102():61-73. PubMed ID: 27865915
[TBL] [Abstract][Full Text] [Related]
19. Cystathioninuria in Down's syndrome.
Hestnes A; Borud O; Lunde H; Gjessing L
J Ment Defic Res; 1989 Jun; 33 ( Pt 3)():261-5. PubMed ID: 2526881
[TBL] [Abstract][Full Text] [Related]
20. Identification of new cystathionine mono-oxo acids, S-(3-oxo-3-carboxy-n-propyl) cysteine and S-(2-oxo-2-carboxyethyl) homocysteine, in the urine of a patient with cystathioninuria.
Okada T; Takechi T; Wakiguchi H; Kurashige T; Sugahara K; Kodama H
Arch Biochem Biophys; 1993 Sep; 305(2):385-91. PubMed ID: 8373176
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]