| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Shino Yamasaki-Yashiki, Shinjiro Tachibana, Yasuhisa Asan. Determination of L-methionine using methionine-specific dehydrogenase for diagnosis of homocystinuria due to cystathionine β-synthase deficiency. Analytical biochemistry. vol 428. issue 2. 2013-03-26. PMID:22750517. |
to determine the l-methionine (l-met) concentration in an extract from dried blood spots (dbss) for newborn mass screening for homocystinuria (hcu) due to cystathionine β-synthase (cbs) deficiency, a new fluorometric microplate assay using a methionine-specific dehydrogenase (metdh) and the diaphorase/reazusrin system was established. |
2013-03-26 |
2023-08-12 |
Not clear |
| Angel L Pey, Tomas Majtan, Jose M Sanchez-Ruiz, Jan P Krau. Human cystathionine β-synthase (CBS) contains two classes of binding sites for S-adenosylmethionine (SAM): complex regulation of CBS activity and stability by SAM. The Biochemical journal. vol 449. issue 1. 2013-02-08. PMID:22985361. |
missense mutations in cbs are the major cause of inherited hcu (homocystinuria). |
2013-02-08 |
2023-08-12 |
human |
| Hua Jiang, Sally P Stabler, Robert H Allen, Kenneth N Maclea. Altered expression of apoA-I, apoA-IV and PON-1 activity in CBS deficient homocystinuria in the presence and absence of treatment: possible implications for cardiovascular outcomes. Molecular genetics and metabolism. vol 107. issue 1-2. 2013-01-29. PMID:22633282. |
altered expression of apoa-i, apoa-iv and pon-1 activity in cbs deficient homocystinuria in the presence and absence of treatment: possible implications for cardiovascular outcomes. |
2013-01-29 |
2023-08-12 |
mouse |
| Hua Jiang, Sally P Stabler, Robert H Allen, Kenneth N Maclea. Altered expression of apoA-I, apoA-IV and PON-1 activity in CBS deficient homocystinuria in the presence and absence of treatment: possible implications for cardiovascular outcomes. Molecular genetics and metabolism. vol 107. issue 1-2. 2013-01-29. PMID:22633282. |
classical homocystinuria (hcu) is caused by mutations in cystathionine beta-synthase (cbs) which, if untreated, typically results in cognitive impairment, thromboembolic complications and connective tissue disturbances. |
2013-01-29 |
2023-08-12 |
mouse |
| Kenneth N Maclean, Lori S Greiner, Jeffrey R Evans, Sudesh K Sood, Sarka Lhotak, Neil E Markham, Sally P Stabler, Robert H Allen, Richard C Austin, Vivek Balasubramaniam, Hua Jian. Cystathionine protects against endoplasmic reticulum stress-induced lipid accumulation, tissue injury, and apoptotic cell death. The Journal of biological chemistry. vol 287. issue 38. 2012-12-04. PMID:22854956. |
pathogenic mutations in cbs result in cbs-deficient homocystinuria (hcu) which, if untreated, results in mental retardation, thromboembolic complications and connective tissue disorders. |
2012-12-04 |
2023-08-12 |
mouse |
| Jacob A Mayfield, Meara W Davies, Dago Dimster-Denk, Nick Pleskac, Sean McCarthy, Elizabeth A Boydston, Logan Fink, Xin Xin Lin, Ankur S Narain, Michael Meighan, Jasper Rin. Surrogate genetics and metabolic profiling for characterization of human disease alleles. Genetics. vol 190. issue 4. 2012-07-26. PMID:22267502. |
cystathionine-β-synthase (cbs) deficiency is a human genetic disease causing homocystinuria, thrombosis, mental retardation, and a suite of other devastating manifestations. |
2012-07-26 |
2023-08-12 |
human |
| Jacob A Mayfield, Meara W Davies, Dago Dimster-Denk, Nick Pleskac, Sean McCarthy, Elizabeth A Boydston, Logan Fink, Xin Xin Lin, Ankur S Narain, Michael Meighan, Jasper Rin. Surrogate genetics and metabolic profiling for characterization of human disease alleles. Genetics. vol 190. issue 4. 2012-07-26. PMID:22267502. |
to this end, we tested the function of 84 cbs alleles previously sequenced from patients with homocystinuria by ortholog replacement in saccharomyces cerevisiae. |
2012-07-26 |
2023-08-12 |
human |
| Tomas Majtan, Jan P Krau. Folding and activity of mutant cystathionine β-synthase depends on the position and nature of the purification tag: characterization of the R266K CBS mutant. Protein expression and purification. vol 82. issue 2. 2012-07-19. PMID:22333527. |
missense mutations in cbs, the most common cause of homocystinuria, often result in misfolded proteins. |
2012-07-19 |
2023-08-12 |
Not clear |
| Amy K Keating, Cynthia Freehauf, Hua Jiang, Gary L Brodsky, Sally P Stabler, Robert H Allen, Douglas K Graham, Janet A Thomas, Johan L K Van Hove, Kenneth N Maclea. Constitutive induction of pro-inflammatory and chemotactic cytokines in cystathionine beta-synthase deficient homocystinuria. Molecular genetics and metabolism. vol 103. issue 4. 2012-02-24. PMID:21601502. |
cystathionine beta-synthase (cbs) deficient homocystinuria (hcu) is an inherited metabolic defect that if untreated, typically results in cognitive impairment, connective tissue disturbances, atherosclerosis and thromboembolic disease. |
2012-02-24 |
2023-08-12 |
mouse |
| Mónica Cozar, Roser Urreizti, Laura Vilarinho, Carola Grosso, Raquel Dodelson de Kremer, Carla G Asteggiano, Jaime Dalmau, Ana María García, María Antonia Vilaseca, Daniel Grinberg, Susana Balcell. Identification and functional analyses of CBS alleles in Spanish and Argentinian homocystinuric patients. Human mutation. vol 32. issue 7. 2011-10-14. PMID:21520339. |
homocystinuria due to cbs deficiency is a rare autosomal recessive disorder characterized by elevated plasma levels of homocysteine (hcy) and methionine (met). |
2011-10-14 |
2023-08-12 |
Not clear |
| S Harvey Mud. Hypermethioninemias of genetic and non-genetic origin: A review. American journal of medical genetics. Part C, Seminars in medical genetics. vol 157C. issue 1. 2011-05-25. PMID:21308989. |
the genetic conditions are: (1) homocystinuria due to cystathionine β-synthase (cbs) deficiency. |
2011-05-25 |
2023-08-12 |
Not clear |
| Jeffrey Sung-Shing Kwok, Simon Loi-Mo Fung, Grace Chung-Yan Lui, Eric Lap-Kay Law, Michael Ho-Ming Chan, Chi-Bon Leung, Nelson Leung-Sang Tan. CBS gene mutations found in a Chinese pyridoxine-responsive homocystinuria patient. Pathology. vol 43. issue 1. 2011-05-19. PMID:21240075. |
cbs gene mutations found in a chinese pyridoxine-responsive homocystinuria patient. |
2011-05-19 |
2023-08-12 |
Not clear |
| Jana Kopecká, Jakub Krijt, Kateřina Raková, Viktor Kožic. Restoring assembly and activity of cystathionine β-synthase mutants by ligands and chemical chaperones. Journal of inherited metabolic disease. vol 34. issue 1. 2011-05-12. PMID:20490928. |
misfolding and aggregation of mutant enzymes have been proposed to play role in the pathogenesis of homocystinuria due to cystathionine β-synthase (cbs) deficiency. |
2011-05-12 |
2023-08-12 |
Not clear |
| Jana Kopecká, Jakub Krijt, Kateřina Raková, Viktor Kožic. Restoring assembly and activity of cystathionine β-synthase mutants by ligands and chemical chaperones. Journal of inherited metabolic disease. vol 34. issue 1. 2011-05-12. PMID:20490928. |
this study identified chaperone-responsive mutants that represent 56 of 713 known patient-derived cbs alleles and may serve as a basis for exploring pharmacological approaches aimed at correcting misfolding in homocystinuria. |
2011-05-12 |
2023-08-12 |
Not clear |
| Martin Magner, Lucie Krupková, Tomáš Honzík, Jiří Zeman, Josef Hyánek, Viktor Kožic. Vascular presentation of cystathionine beta-synthase deficiency in adulthood. Journal of inherited metabolic disease. vol 34. issue 1. 2011-05-12. PMID:20567906. |
a vascular event such as a clinical feature leading to diagnosis of homocystinuria was present in five patients, while two of them had no other symptoms typical for cbs deficiency at the time of diagnosis. |
2011-05-12 |
2023-08-12 |
Not clear |
| Kenneth N Maclean, Jakub Sikora, Viktor Kožich, Hua Jiang, Lori S Greiner, Eva Kraus, Jakub Krijt, Katherine H Overdier, Renata Collard, Gary L Brodsky, Lynne Meltesen, Linda S Crnic, Robert H Allen, Sally P Stabler, Milan Elleder, Rima Rozen, David Patterson, Jan P Krau. A novel transgenic mouse model of CBS-deficient homocystinuria does not incur hepatic steatosis or fibrosis and exhibits a hypercoagulative phenotype that is ameliorated by betaine treatment. Molecular genetics and metabolism. vol 101. issue 2-3. 2011-01-27. PMID:20638879. |
inactivation of cbs results in cbs-deficient homocystinuria more commonly referred to as classical homocystinuria, which, if untreated, results in mental retardation, thromboembolic complications, and a range of connective tissue disorders. |
2011-01-27 |
2023-08-12 |
mouse |
| Kenneth N Maclean, Jakub Sikora, Viktor Kožich, Hua Jiang, Lori S Greiner, Eva Kraus, Jakub Krijt, Katherine H Overdier, Renata Collard, Gary L Brodsky, Lynne Meltesen, Linda S Crnic, Robert H Allen, Sally P Stabler, Milan Elleder, Rima Rozen, David Patterson, Jan P Krau. A novel transgenic mouse model of CBS-deficient homocystinuria does not incur hepatic steatosis or fibrosis and exhibits a hypercoagulative phenotype that is ameliorated by betaine treatment. Molecular genetics and metabolism. vol 101. issue 2-3. 2011-01-27. PMID:20638879. |
we report here the generation of a new mouse model of classical homocystinuria in which the mouse cbs gene is inactivated and that exhibits low-level expression of the human cbs transgene under the control of the human cbs promoter. |
2011-01-27 |
2023-08-12 |
mouse |
| Kenneth N Maclean, Jakub Sikora, Viktor Kožich, Hua Jiang, Lori S Greiner, Eva Kraus, Jakub Krijt, Linda S Crnic, Robert H Allen, Sally P Stabler, Milan Elleder, Jan P Krau. Cystathionine beta-synthase null homocystinuric mice fail to exhibit altered hemostasis or lowering of plasma homocysteine in response to betaine treatment. Molecular genetics and metabolism. vol 101. issue 2-3. 2011-01-27. PMID:20638882. |
cystathionine beta-synthase (cbs) deficient homocystinuria is an inherited metabolic defect that if untreated typically results in mental retardation, thromboembolism and a range of connective tissue disturbances. |
2011-01-27 |
2023-08-12 |
mouse |
| Viktor Kozich, Jitka Sokolová, Veronika Klatovská, Jakub Krijt, Miroslav Janosík, Karel Jelínek, Jan P Krau. Cystathionine beta-synthase mutations: effect of mutation topology on folding and activity. Human mutation. vol 31. issue 7. 2010-10-04. PMID:20506325. |
we examined properties of a series of 27 mutant variants, which together represent 70% of known alleles observed in patients with homocystinuria due to cbs deficiency. |
2010-10-04 |
2023-08-12 |
Not clear |
| Flemming Skovby, Mette Gaustadnes, S Harvey Mud. A revisit to the natural history of homocystinuria due to cystathionine beta-synthase deficiency. Molecular genetics and metabolism. vol 99. issue 1. 2010-04-26. PMID:19819175. |
we review the evidence that in denmark and probably certain other european countries the number of individuals identified with homocystinuria due to homozygosity for the widespread c.833t>c (p.i278t) mutation in the gene that encodes cystathionine beta-synthase (cbs) falls far short of the number of such individuals expected on the basis of the heterozygote frequency for this mutation found by molecular screening. |
2010-04-26 |
2023-08-12 |
Not clear |