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Items: 1 to 20 of 21

1.
Hydrogen Sulfide Promotes Bone Homeostasis by Balancing Inflammatory Cytokine Signaling in CBS-Deficient Mice through an Epigenetic Mechanism
Jyotirmaya Behera, Kimberly E. Kelly, Michael J. Voor, Naira Metreveli, Suresh C. Tyagi, Neetu Tyagi
Sci Rep. 2018; 8: 15226. Published online 2018 Oct 15. doi: 10.1038/s41598-018-33149-9
PMCID:
PMC6189133
AbstractArticlePDF–6.4M
2.
Cystathionine β-synthase Deficiency: Of Mice and Men
Warren D. Kruger
Mol Genet Metab. Author manuscript; available in PMC 2018 Jul 1.
Published in final edited form as: Mol Genet Metab. 2017 Jul; 121(3): 199–205. Published online 2017 May 19. doi: 10.1016/j.ymgme.2017.05.011
PMCID:
PMC5526210
AbstractArticlePDF–607K
3.
A revisit to the natural history of homocystinuria due to cystathionine β-synthase deficiency
Flemming Skovby, Mette Gaustadnes, S. Harvey Mudd
Mol Genet Metab. Author manuscript; available in PMC 2011 Jan 1.
Published in final edited form as: Mol Genet Metab. 2010 Jan; 99(1): 1–3. doi: 10.1016/j.ymgme.2009.09.009
PMCID:
PMC2795104
AbstractArticlePDF–78K
4.
Cystathionine β-Synthase p.S466L Mutation Causes Hyperhomocysteinemia in Mice
Sapna Gupta, Liqun Wang, Xiang Hua, Jakub Krijt, Viktor Kožich, Warren D. Kruger
Hum Mutat. 2008 Aug; 29(8): 1048–1054. Published online 2008 May 2. doi: 10.1002/humu.20773
PMCID:
PMC2630375
AbstractArticlePDF–261K
5.
Molecular genetic analysis in mild hyperhomocysteinemia: a common mutation in the methylenetetrahydrofolate reductase gene is a genetic risk factor for cardiovascular disease.
L. A. Kluijtmans, L. P. van den Heuvel, G. H. Boers, P. Frosst, E. M. Stevens, B. A. van Oost, M. den Heijer, F. J. Trijbels, R. Rozen, H. J. Blom
Am J Hum Genet. 1996 Jan; 58(1): 35–41.
PMCID:
PMC1914961
SummaryPage BrowsePDF–1.1M
6.
High prevalence of a mutation in the cystathionine beta-synthase gene.
M. Y. Tsai, M. Bignell, K. Schwichtenberg, N. Q. Hanson
Am J Hum Genet. 1996 Dec; 59(6): 1262–1267.
PMCID:
PMC1914870
SummaryPage BrowsePDF–1.1M
7.
A 68-bp insertion found in a homocystinuric patient is a common variant and is skipped by alternative splicing of the cystathionine beta-synthase mRNA.
M. P. Sperandeo, R. de Franchis, G. Andria, G. Sebastio
Am J Hum Genet. 1996 Dec; 59(6): 1391–1393.
PMCID:
PMC1914867
SummaryPage BrowsePDF–716K
8.
A missense mutation (I278T) in the cystathionine beta-synthase gene prevalent in pyridoxine-responsive homocystinuria and associated with mild clinical phenotype.
V E Shih, J M Fringer, R Mandell, J P Kraus, G T Berry, R A Heidenreich, M S Korson, H L Levy, V Ramesh
Am J Hum Genet. 1995 Jul; 57(1): 34–39.
PMCID:
PMC1801250
SummaryPage BrowsePDF–1.1M
9.
The molecular basis of homocystinuria due to cystathionine beta-synthase deficiency in Italian families, and report of four novel mutations.
G Sebastio, M P Sperandeo, M Panico, R de Franchis, J P Kraus, G Andria
Am J Hum Genet. 1995 Jun; 56(6): 1324–1333.
PMCID:
PMC1801112
SummaryPage BrowsePDF–2.0M
10.
The gene for cystathionine beta-synthase (CBS) maps to the subtelomeric region on human chromosome 21q and to proximal mouse chromosome 17.
M Münke, J P Kraus, T Ohura, U Francke
Am J Hum Genet. 1988 Apr; 42(4): 550–559.
PMCID:
PMC1715237
SummaryPage BrowsePDF–1.9M
11.
Homocystinuria: biogenesis of cystathionine beta-synthase subunits in cultured fibroblasts and in an in vitro translation system programmed with fibroblast messenger RNA.
F Skovby, J P Kraus, L E Rosenberg
Am J Hum Genet. 1984 Mar; 36(2): 452–459.
PMCID:
PMC1684440
SummaryPage BrowsePDF–1.0M
12.
The molecular basis of cystathionine beta-synthase deficiency in Dutch patients with homocystinuria: effect of CBS genotype on biochemical and clinical phenotype and on response to treatment.
L A Kluijtmans, G H Boers, J P Kraus, L P van den Heuvel, J R Cruysberg, F J Trijbels, H J Blom
Am J Hum Genet. 1999 Jul; 65(1): 59–67. doi: 10.1086/302439
PMCID:
PMC1378075
SummaryPDF–229K
13.
Expression of mutant human cystathionine beta-synthase rescues neonatal lethality but not homocystinuria in a mouse model
Liqun Wang, Xulin Chen, Baiqing Tang, Xiang Hua, Andres Klein-Szanto, Warren D. Kruger
Hum Mol Genet. Author manuscript; available in PMC 2006 Aug 1.
Published in final edited form as: Hum Mol Genet. 2005 Aug 1; 14(15): 2201–2208. Published online 2005 Jun 22. doi: 10.1093/hmg/ddi224
PMCID:
PMC1283068
AbstractArticlePDF–725K
14.
Impaired Heme Binding and Aggregation of Mutant Cystathionine β-Synthase Subunits in Homocystinuria
Miroslav Janošík, Jana Oliveriusová, Bohumila Janošíková, Jitka Sokolová, Eva Kraus, Jan P. Kraus, Viktor Kožich
Am J Hum Genet. 2001 Jun; 68(6): 1506–1513. Published online 2001 May 15. doi: 10.1086/320597
PMCID:
PMC1226138
AbstractArticlePDF–223K
15.
Homocysteine Metabolism in Children with Down Syndrome: In Vitro Modulation
Marta Pogribna, Stepan Melnyk, Igor Pogribny, Abalo Chango, Ping Yi, S. Jill James
Am J Hum Genet. 2001 Jul; 69(1): 88–95. Published online 2001 Jun 5. doi: 10.1086/321262
PMCID:
PMC1226051
AbstractArticlePDF–120K
16.
Defective cystathionine beta-synthase regulation by S-adenosylmethionine in a partially pyridoxine responsive homocystinuria patient.
L A Kluijtmans, G H Boers, E M Stevens, W O Renier, J P Kraus, F J Trijbels, L P van den Heuvel, H J Blom
J Clin Invest. 1996 Jul 15; 98(2): 285–289. doi: 10.1172/JCI118791
PMCID:
PMC507429
SummaryPDF–200K
17.
On the Mechanism of Pyridoxine Responsive Homocystinuria. II. Properties of Normal and Mutant Cystathionine β-Synthase from Cultured Fibroblasts
Young Jin Kim, Leon E. Rosenberg
Proc Natl Acad Sci U S A. 1974 Dec; 71(12): 4821–4825. doi: 10.1073/pnas.71.12.4821
PMCID:
PMC433989
SummaryPage BrowsePDF–1.0M
18.
CBS domains form energy-sensing modules whose binding of adenosine ligands is disrupted by disease mutations
John W. Scott, Simon A. Hawley, Kevin A. Green, Miliea Anis, Greg Stewart, Gillian A. Scullion, David G. Norman, D. Grahame Hardie
J Clin Invest. 2004 Jan 15; 113(2): 274–284. doi: 10.1172/JCI19874
PMCID:
PMC311435
AbstractArticlePDF–1.0M
19.
Cystathionine Synthase Activity in Human Lymphocytes: Induction by Phytohemagglutinin
Joseph L. Goldstein, Barbara K. Campbell, Stanley M. Gartler
J Clin Invest. 1972 Apr; 51(4): 1034–1037. doi: 10.1172/JCI106863
PMCID:
PMC302215
SummaryPage BrowsePDF–647K
20.
A yeast system for expression of human cystathionine beta-synthase: structural and functional conservation of the human and yeast genes.
W D Kruger, D R Cox
Proc Natl Acad Sci U S A. 1994 Jul 5; 91(14): 6614–6618. doi: 10.1073/pnas.91.14.6614
PMCID:
PMC44253
SummaryPage BrowsePDF–1.6M

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