| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Sayed K Goda, Yasmin W Abu Aqel, Mai R Al-Aswad, Fatma A B Rashedy, Amr S Mohame. Production of synthetic methionine-free and synthetic methionine-limited alpha casein: protein foodstuff for patients with homocystinuria due to cystathionine beta-synthase deficiency. The protein journal. vol 29. issue 1. 2010-03-05. PMID:20033268. |
the aim of this study was to evaluate the possibility that synthetic forms of methionine-free alpha-casein and methionine-limited alpha casein could be produced by recombinant means to form the basis for developing an industrial-scale process for the provision of a foodstuff suitable for patients with homocystinuria due to cystathionine beta-synthase (cbs) deficiency. |
2010-03-05 |
2023-08-12 |
Not clear |
| Sayed K Goda, Yasmin W Abu Aqel, Mai R Al-Aswad, Fatma A B Rashedy, Amr S Mohame. Production of synthetic methionine-free and synthetic methionine-limited alpha casein: protein foodstuff for patients with homocystinuria due to cystathionine beta-synthase deficiency. The protein journal. vol 29. issue 1. 2010-03-05. PMID:20033268. |
this work paves the way for industrial-scale production of proteins suitable for patients with homocystinuria due to cbs deficiency. |
2010-03-05 |
2023-08-12 |
Not clear |
| Jean-François Chassé, Robert Barouk. Characterisation of a human liver cystathionine beta synthase mRNA sequence corresponding to the c.[833T>C;844_845ins68] mutation in CBS gene. Molecular and cellular biochemistry. vol 332. issue 1-2. 2010-03-04. PMID:19593657. |
the c.[833t>c;844_845ins68] mutation in the cbs gene has been reported initially as corresponding to classic homocystinuria. |
2010-03-04 |
2023-08-12 |
human |
| Laishram R Singh, Sapna Gupta, Nicholaas H Honig, Jan P Kraus, Warren D Kruge. Activation of mutant enzyme function in vivo by proteasome inhibitors and treatments that induce Hsp70. PLoS genetics. vol 6. issue 1. 2010-03-01. PMID:20066033. |
previously, we have shown using a yeast system that enzymatic function could be restored to i278t cystathionine beta-synthase (cbs), a cause of homocystinuria, by treatments that affect the intracellular chaperone environment. |
2010-03-01 |
2023-08-12 |
mouse |
| Laishram R Singh, Sapna Gupta, Nicholaas H Honig, Jan P Kraus, Warren D Kruge. Activation of mutant enzyme function in vivo by proteasome inhibitors and treatments that induce Hsp70. PLoS genetics. vol 6. issue 1. 2010-03-01. PMID:20066033. |
these findings do not appear restricted to s. cerevisiae, as proteasome inhibitors can restore significant cbs enzymatic activity to cbs alleles expressed in fibroblasts derived from homocystinuric patients and in a mouse model for homocystinuria that expresses human i278t cbs. |
2010-03-01 |
2023-08-12 |
mouse |
| Colin L Weeks, Sangita Singh, Peter Madzelan, Ruma Banerjee, Thomas G Spir. Heme regulation of human cystathionine beta-synthase activity: insights from fluorescence and Raman spectroscopy. Journal of the American Chemical Society. vol 131. issue 35. 2009-12-29. PMID:19722721. |
cystathionine beta-synthase (cbs) plays a central role in homocysteine metabolism, and malfunction of the enzyme leads to homocystinuria, a devastating metabolic disease. |
2009-12-29 |
2023-08-12 |
human |
| R Lefaucheur, A Triquenot-Bagan, M Quillard, O Genevois, D Hannequi. [Stroke and iridodonesis revealing a homocystinuria caused by a compound heterozygous mutation of cystathionine beta-synthase]. Revue neurologique. vol 164. issue 8-9. 2008-11-26. PMID:18805305. |
homocystinuria was caused by a compound heterozygous i278t and d444n mutation of cystathionine beta-synthase (cbs) gene and also a c667t heterozygous polymorphism of methylene-tetrahydrofolate-reductase gene. |
2008-11-26 |
2023-08-12 |
Not clear |
| Sapna Gupta, Liqun Wang, Xiang Hua, Jakub Krijt, Viktor Kozich, Warren D Kruge. Cystathionine beta-synthase p.S466L mutation causes hyperhomocysteinemia in mice. Human mutation. vol 29. issue 8. 2008-10-13. PMID:18454451. |
missense mutations in the cystathionine beta-synthase (cbs) gene are the most common cause of clinical homocystinuria in humans. |
2008-10-13 |
2023-08-12 |
mouse |
| Sapna Gupta, Liqun Wang, Xiang Hua, Jakub Krijt, Viktor Kozich, Warren D Kruge. Cystathionine beta-synthase p.S466L mutation causes hyperhomocysteinemia in mice. Human mutation. vol 29. issue 8. 2008-10-13. PMID:18454451. |
our results show that p.s466l causes homocystinuria by affecting both the steady state level of cbs protein and by reducing the efficiency of the enzyme in vivo. |
2008-10-13 |
2023-08-12 |
mouse |
| Yasushi Enokid. [Disruption of amino acid metabolism in astrocyte and neurological disorders--possible implication of abnormal glia-neuron network in homocystineuria]. Brain and nerve = Shinkei kenkyu no shinpo. vol 59. issue 7. 2007-09-14. PMID:17663144. |
a deficiency of cbs causes homocystinuria (mim 236200), one of the most prevalent inborn errors, characterized by mental retardation, seizures, psychiatric disturbances, skeletal abnormalities and vascular disorders. |
2007-09-14 |
2023-08-12 |
mouse |
| Yasushi Enokid. [Disruption of amino acid metabolism in astrocyte and neurological disorders--possible implication of abnormal glia-neuron network in homocystineuria]. Brain and nerve = Shinkei kenkyu no shinpo. vol 59. issue 7. 2007-09-14. PMID:17663144. |
although the link between cbs deficiency and homocystinuria was first described over 40 years ago and mental retardation was the first clinical feature of the disease to be classified, very little is known about the role of cbs in the cns. |
2007-09-14 |
2023-08-12 |
mouse |
| Sandra G Heil, Niels P Riksen, Godfried H Boers, Yvo Smulders, Henk J Blo. DNA methylation status is not impaired in treated cystathionine beta-synthase (CBS) deficient patients. Molecular genetics and metabolism. vol 91. issue 1. 2007-07-25. PMID:17336565. |
cystathionine beta-synthase (cbs) deficiency is an inborn error of metabolism that is biochemically characterized by severe hyperhomocysteinemia and homocystinuria. |
2007-07-25 |
2023-08-12 |
mouse |
| Petr Vyletal, Jitka Sokolová, David N Cooper, Jan P Kraus, Michael Krawczak, Guglielmina Pepe, Olga Rickards, Hans G Koch, Michael Linnebank, Leo A J Kluijtmans, Henk J Blom, Godfried H J Boers, Mette Gaustadnes, Flemming Skovby, Bridget Wilcken, David E L Wilcken, Generoso Andria, Gianfranco Sebastio, Eileen R Naughten, Sufin Yap, Toshihiro Ohura, Ewa Pronicka, Aranka Laszlo, Viktor Kozic. Diversity of cystathionine beta-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversion. Human mutation. vol 28. issue 3. 2007-03-16. PMID:17072863. |
homozygosity or compound heterozygosity for the c.833t>c transition (p.i278 t) in the cystathionine beta-synthase (cbs) gene represents the most common cause of pyridoxine-responsive homocystinuria in western eurasians. |
2007-03-16 |
2023-08-12 |
Not clear |
| Eun-Sook Park, Hyun-Jeong Oh, Warren D Kruger, Sung-Chul Jung, Jin-Sung Le. Recombinant adeno-associated virus mediated gene transfer in a mouse model for homocystinuria. Experimental & molecular medicine. vol 38. issue 6. 2007-01-30. PMID:17202841. |
homocystinuria is a metabolic disorder caused by a deficiency of cystathionine beta-synthase (cbs). |
2007-01-30 |
2023-08-12 |
mouse |
| Mahmoud F El-Said, Ramin Badii, M S Bessisso, Noora Shahbek, Mariam G El-Ali, Mariam El-Marikhie, M El-Zyoid, M S Z Salem, Abdulbari Bener, Georg F Hoffmann, Johannes Zschock. A common mutation in the CBS gene explains a high incidence of homocystinuria in the Qatari population. Human mutation. vol 27. issue 7. 2006-08-07. PMID:16786517. |
a common mutation in the cbs gene explains a high incidence of homocystinuria in the qatari population. |
2006-08-07 |
2023-08-12 |
Not clear |
| Marta Bermúdez, Nina Frank, Jaime Bernal, Roser Urreizti, Ignacio Briceño, Begoña Merinero, Celia Perez-Cerdá, Magdalena Ugarte, Daniel Grinberg, Susana Balcells, Jan P Krau. High prevalence of CBS p.T191M mutation in homocystinuric patients from Colombia. Human mutation. vol 27. issue 3. 2006-08-02. PMID:16470595. |
homocystinuria is an autosomal recessive disease most commonly caused by mutations in cystathionine beta-synthase (cbs). |
2006-08-02 |
2023-08-12 |
Not clear |
| Fumio Katsushima, Jana Oliveriusova, Osamu Sakamoto, Toshihiro Ohura, Yoshiaki Kondo, Kazuie Iinuma, Eva Kraus, Renata Stouracova, Jan P Krau. Expression study of mutant cystathionine beta-synthase found in Japanese patients with homocystinuria. Molecular genetics and metabolism. vol 87. issue 4. 2006-05-30. PMID:16307898. |
cystathionine beta-synthase (cbs) deficiency is the most common cause of homocystinuria. |
2006-05-30 |
2023-08-12 |
Not clear |
| Roser Urreizti, Carla Asteggiano, Marta Bermudez, Alfonso Córdoba, Mariana Szlago, Carola Grosso, Raquel Dodelson de Kremer, Laura Vilarinho, Vania D'Almeida, Mercedes Martínez-Pardo, Luís Peña-Quintana, Jaime Dalmau, Jaime Bernal, Ignacio Briceño, María Luz Couce, Marga Rodés, Maria Antonia Vilaseca, Susana Balcells, Daniel Grinber. The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America. Journal of human genetics. vol 51. issue 4. 2006-05-17. PMID:16479318. |
classical homocystinuria is due to cystathionine beta-synthase (cbs) deficiency. |
2006-05-17 |
2023-08-12 |
Not clear |
| Yasushi Enokido, Eri Suzuki, Kazu Iwasawa, Kazuhiko Namekata, Hitoshi Okazawa, Hideo Kimur. Cystathionine beta-synthase, a key enzyme for homocysteine metabolism, is preferentially expressed in the radial glia/astrocyte lineage of developing mouse CNS. FASEB journal : official publication of the Federation of American Societies for Experimental Biology. vol 19. issue 13. 2006-03-07. PMID:16160063. |
a deficiency of cbs leads to homocystinuria, an inherited human disease characterized by mental retardation, seizures, psychiatric disturbances, skeletal abnormalities, and vascular disorders; however, the underlying mechanisms remain largely unknown. |
2006-03-07 |
2023-08-12 |
mouse |
| Sook-Jin Lee, Dong Hwan Lee, Han-Wook Yoo, Soo Kyung Koo, Eun-Sook Park, Joo-Won Park, Hun Gil Lim, Sung-Chul Jun. Identification and functional analysis of cystathionine beta-synthase gene mutations in patients with homocystinuria. Journal of human genetics. vol 50. issue 12. 2006-02-23. PMID:16205833. |
homocystinuria is an autosomal recessive inborn error of metabolism that is most often caused by mutation in the cystathionine beta-synthase (cbs) gene. |
2006-02-23 |
2023-08-12 |
Not clear |