| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Marisa I S Mendes, Henrique G Colaço, Desirée E C Smith, Rúben J J F Ramos, Ana Pop, Silvy J M van Dooren, Isabel Tavares de Almeida, Leo A J Kluijtmans, Mirian C H Janssen, Isabel Rivera, Gajja S Salomons, Paula Leandro, Henk J Blo. Reduced response of Cystathionine Beta-Synthase (CBS) to S-Adenosylmethionine (SAM): Identification and functional analysis of CBS gene mutations in Homocystinuria patients. Journal of inherited metabolic disease. vol 37. issue 2. 2015-01-21. PMID:23974653. |
reduced response of cystathionine beta-synthase (cbs) to s-adenosylmethionine (sam): identification and functional analysis of cbs gene mutations in homocystinuria patients. |
2015-01-21 |
2023-08-12 |
Not clear |
| Marisa I S Mendes, Henrique G Colaço, Desirée E C Smith, Rúben J J F Ramos, Ana Pop, Silvy J M van Dooren, Isabel Tavares de Almeida, Leo A J Kluijtmans, Mirian C H Janssen, Isabel Rivera, Gajja S Salomons, Paula Leandro, Henk J Blo. Reduced response of Cystathionine Beta-Synthase (CBS) to S-Adenosylmethionine (SAM): Identification and functional analysis of CBS gene mutations in Homocystinuria patients. Journal of inherited metabolic disease. vol 37. issue 2. 2015-01-21. PMID:23974653. |
a reduced response of cystathionine beta-synthase (cbs) to its allosteric activator s-adenosylmethionine (sam) has been reported to be a cause of cbs dysfunction in homocystinuria patients. |
2015-01-21 |
2023-08-12 |
Not clear |
| Marisa I S Mendes, Henrique G Colaço, Desirée E C Smith, Rúben J J F Ramos, Ana Pop, Silvy J M van Dooren, Isabel Tavares de Almeida, Leo A J Kluijtmans, Mirian C H Janssen, Isabel Rivera, Gajja S Salomons, Paula Leandro, Henk J Blo. Reduced response of Cystathionine Beta-Synthase (CBS) to S-Adenosylmethionine (SAM): Identification and functional analysis of CBS gene mutations in Homocystinuria patients. Journal of inherited metabolic disease. vol 37. issue 2. 2015-01-21. PMID:23974653. |
our study experimentally supports a deficient regulation of cbs by sam as a frequently found mechanism in cbs deficiency, which should be considered not only as a valuable diagnostic tool but also as a potential target for the development of new therapeutic approaches in classical homocystinuria. |
2015-01-21 |
2023-08-12 |
Not clear |
| June Ereño-Orbea, Tomas Majtan, Iker Oyenarte, Jan P Kraus, Luis Alfonso Martínez-Cru. Purification, crystallization and preliminary crystallographic analysis of the catalytic core of cystathionine β-synthase from Saccharomyces cerevisiae. Acta crystallographica. Section F, Structural biology communications. vol 70. issue Pt 3. 2014-11-04. PMID:24598918. |
in humans, deficiency in cbs activity is the most common cause of hyperhomocysteinaemia and homocystinuria. |
2014-11-04 |
2023-08-12 |
human |
| Mariana Sarov, Adeline Not, Hélène Ogier de Baulny, Pascal Masnou, Katayoun Vahedi, Marie-Germaine Bousser, Christian Denie. A case of homocystinuria due to CBS gene mutations revealed by cerebral venous thrombosis. Journal of the neurological sciences. vol 336. issue 1-2. 2014-09-29. PMID:24169224. |
a case of homocystinuria due to cbs gene mutations revealed by cerebral venous thrombosis. |
2014-09-29 |
2023-08-12 |
Not clear |
| Mariana Sarov, Adeline Not, Hélène Ogier de Baulny, Pascal Masnou, Katayoun Vahedi, Marie-Germaine Bousser, Christian Denie. A case of homocystinuria due to CBS gene mutations revealed by cerebral venous thrombosis. Journal of the neurological sciences. vol 336. issue 1-2. 2014-09-29. PMID:24169224. |
homocystinuria caused by cystathionine beta synthase (cbs) deficiency is most often diagnosed in childhood and has a variable expressivity. |
2014-09-29 |
2023-08-12 |
Not clear |
| Camila Simioni Vanzin, Vanusa Manfredini, Ana Eveline Marinho, Giovana Brondani Biancini, Graziela Schmitt Ribas, Marion Deon, Angela Terezinha de Souza Wyse, Moacir Wajner, Carmen Regla Varga. Homocysteine contribution to DNA damage in cystathionine β-synthase-deficient patients. Gene. vol 539. issue 2. 2014-05-06. PMID:24534463. |
high blood levels of homocysteine (hcy) are found in patients affected by homocystinuria, a genetic disorder caused by deficiency of cystathionine β-synthase (cbs) activity, as well as in nutritional deficiencies (vitamin b12 or folate) and in abnormal renal function. |
2014-05-06 |
2023-08-12 |
Not clear |
| Mehmet Karaca, Burcu Hismi, Riza Koksal Ozgul, Sefayet Karaca, Didem Yucel Yilmaz, Turgay Coskun, Hatice Serap Sivri, Aysegul Tokatli, Ali Dursu. High prevalence of cerebral venous sinus thrombosis (CVST) as presentation of cystathionine beta-synthase deficiency in childhood: molecular and clinical findings of Turkish probands. Gene. vol 534. issue 2. 2014-04-17. PMID:24211323. |
classical homocystinuria is the most commonly inherited disorder of sulfur metabolism, caused by the genetic alterations in human cystathionine beta-synthase (cbs) gene. |
2014-04-17 |
2023-08-12 |
human |
| Mehmet Karaca, Burcu Hismi, Riza Koksal Ozgul, Sefayet Karaca, Didem Yucel Yilmaz, Turgay Coskun, Hatice Serap Sivri, Aysegul Tokatli, Ali Dursu. High prevalence of cerebral venous sinus thrombosis (CVST) as presentation of cystathionine beta-synthase deficiency in childhood: molecular and clinical findings of Turkish probands. Gene. vol 534. issue 2. 2014-04-17. PMID:24211323. |
this study provides molecular findings of 26 turkish probands with homocystinuria and discusses the clinical presentations and putative effects of the cbs mutations. |
2014-04-17 |
2023-08-12 |
human |
| J S Lim, D H Le. Changes in bone mineral density and body composition of children with well-controlled homocystinuria caused by CBS deficiency. Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA. vol 24. issue 9. 2014-03-14. PMID:23685761. |
changes in bone mineral density and body composition of children with well-controlled homocystinuria caused by cbs deficiency. |
2014-03-14 |
2023-08-12 |
Not clear |
| J S Lim, D H Le. Changes in bone mineral density and body composition of children with well-controlled homocystinuria caused by CBS deficiency. Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA. vol 24. issue 9. 2014-03-14. PMID:23685761. |
homocystinuria due to cystathionine β-synthase (cbs) deficiency is an inherited disorder of the metabolism of methionine. |
2014-03-14 |
2023-08-12 |
Not clear |
| L Casique, O Kabil, R Banerjee, J C Martinez, M De Lucc. Characterization of two pathogenic mutations in cystathionine beta-synthase: different intracellular locations for wild-type and mutant proteins. Gene. vol 531. issue 1. 2013-12-10. PMID:23981774. |
homocystinuria is an autosomal recessive disorder commonly caused by a deficiency of cbs activity. |
2013-12-10 |
2023-08-12 |
Not clear |
| L Casique, O Kabil, R Banerjee, J C Martinez, M De Lucc. Characterization of two pathogenic mutations in cystathionine beta-synthase: different intracellular locations for wild-type and mutant proteins. Gene. vol 531. issue 1. 2013-12-10. PMID:23981774. |
this study demonstrates that the pathogenic cbs mutations generate unstable proteins that are unable (t87n) or partially unable (d234n) to assemble into a functional enzyme, implying that these mutations might be responsible for the homocystinuria phenotype. |
2013-12-10 |
2023-08-12 |
Not clear |
| June Ereño-Orbea, Tomas Majtan, Iker Oyenarte, Jan P Kraus, Luis Alfonso Martínez-Cru. Structural basis of regulation and oligomerization of human cystathionine β-synthase, the central enzyme of transsulfuration. Proceedings of the National Academy of Sciences of the United States of America. vol 110. issue 40. 2013-12-03. PMID:24043838. |
inherited deficiency of cbs activity causes homocystinuria, the most frequent disorder of sulfur metabolism. |
2013-12-03 |
2023-08-12 |
human |
| June Ereño-Orbea, Tomas Majtan, Iker Oyenarte, Jan P Kraus, Luis Alfonso Martínez-Cru. Structural basis of regulation and oligomerization of human cystathionine β-synthase, the central enzyme of transsulfuration. Proceedings of the National Academy of Sciences of the United States of America. vol 110. issue 40. 2013-12-03. PMID:24043838. |
the availability of the structure will help us understand the pathogenicity of the numerous missense mutations causing inherited homocystinuria and will allow the rational design of compounds modulating cbs activity. |
2013-12-03 |
2023-08-12 |
human |
| S H E Zaidi, M Faiyaz-Ul-Haque, T Shuaib, A Balobaid, Z Rahbeeni, H Abalkhail, A Al-Abdullatif, Z Al-Hassnan, I Peltekova, M Al-Owai. Clinical and molecular findings of 13 families from Saudi Arabia and a family from Sudan with homocystinuria. Clinical genetics. vol 81. issue 6. 2013-07-03. PMID:21517828. |
homocystinuria due to cystathionine beta synthase (cbs) deficiency results in elevated plasma homocysteine and methionine levels, which are associated with multiple organ pathologies, including vascular, respiratory, musculoskeletal, nervous, and ocular tissues. |
2013-07-03 |
2023-08-12 |
Not clear |
| S H E Zaidi, M Faiyaz-Ul-Haque, T Shuaib, A Balobaid, Z Rahbeeni, H Abalkhail, A Al-Abdullatif, Z Al-Hassnan, I Peltekova, M Al-Owai. Clinical and molecular findings of 13 families from Saudi Arabia and a family from Sudan with homocystinuria. Clinical genetics. vol 81. issue 6. 2013-07-03. PMID:21517828. |
this study shows that the spectrum of cbs gene mutations in saudi homocystinuria patients is quite different than the arab patients from qatar and israel. |
2013-07-03 |
2023-08-12 |
Not clear |
| Iker Oyenarte, Tomas Majtan, June Ereño, María Angeles Corral-Rodríguez, Jan P Kraus, Luis Alfonso Martínez-Cru. Purification, crystallization and preliminary crystallographic analysis of human cystathionine β-synthase. Acta crystallographica. Section F, Structural biology and crystallization communications. vol 68. issue Pt 11. 2013-05-07. PMID:23143240. |
cbs is a key regulator of plasma levels of the thrombogenic hcy and deficiency in cbs is the single most common cause of homocystinuria, an inherited metabolic disorder of sulfur amino acids. |
2013-05-07 |
2023-08-12 |
human |
| Iker Oyenarte, Tomas Majtan, June Ereño, María Angeles Corral-Rodríguez, Jaroslav Klaudiny, Juraj Majtan, Jan P Kraus, Luis Alfonso Martínez-Cru. Purification, crystallization and preliminary crystallographic analysis of the full-length cystathionine β-synthase from Apis mellifera. Acta crystallographica. Section F, Structural biology and crystallization communications. vol 68. issue Pt 11. 2013-05-07. PMID:23143241. |
mutations in the cbs gene are the single most common cause of hereditary homocystinuria, a multisystemic disease affecting to various extents the vasculature, connective tissues and central nervous system. |
2013-05-07 |
2023-08-12 |
human |
| Manuel Schiff, Henk J Blo. Treatment of inherited homocystinurias. Neuropediatrics. vol 43. issue 6. 2013-05-02. PMID:23124942. |
inherited homocystinurias, have in common, accumulation of homocysteine with subsequent neurotoxicity; they also encompass two distinctive clinical entities: classical homocystinuria due to cystathionine β-synthase (cbs) deficiency and the rare inborn errors of cobalamin and folate metabolism. |
2013-05-02 |
2023-08-12 |
Not clear |