| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Hyung-Ok Lee, Kushol Gupta, Liqun Wang, Roland L Dunbrack, Tomas Majtan, Warren D Kruge. Impact of primary sequence changes on the self-association properties of mammalian cystathionine beta-synthase enzymes. Protein science : a publication of the Protein Society. vol 33. issue 12. 2024-11-16. PMID:39548832. |
cystathionine beta-synthase (cbs) is an evolutionarily conserved enzyme that plays a key role in mammalian sulfur amino acid biochemistry, mutations in which are the cause of classical homocystinuria (hcu), an inborn error of metabolism. |
2024-11-16 |
2024-11-20 |
mouse |
| Thilo Magnus Philipp, Teodoro Bottiglieri, Wilmelenne Clapper, Kai Liu, Steve Rodems, Csaba Szabo, Tomas Majta. Mechanism of action and impact of thiol homeostasis on efficacy of an enzyme replacement therapy for classical homocystinuria. Redox biology. vol 77. 2024-10-04. PMID:39366068. |
homocystinuria (hcu) due to cystathionine beta-synthase (cbs) deficiency is characterized by elevated plasma and tissue homocysteine levels. |
2024-10-04 |
2024-10-07 |
Not clear |
| Vykuntaraju K Gowda, Annsmol P Markose, Varunvenkat M Srinivasan, Viveka Santhosh C Redd. Comparison of Cystathionine Beta-Synthase (CBS) and Methylene Tetrahydrofolate Reductase (MTHFR) Deficiency in Children with Homocystinuria. Indian journal of pediatrics. 2024-09-03. PMID:39225921. |
comparison of cystathionine beta-synthase (cbs) and methylene tetrahydrofolate reductase (mthfr) deficiency in children with homocystinuria. |
2024-09-03 |
2024-09-05 |
Not clear |
| Joanna Myszkowska, Katharina Klotz, Paula Leandro, Warren D Kruger, D Sean Froese, Matthias R Baumgartner, Ute Spiekerkoetter, Luciana Hanniba. Real-time detection of enzymatically formed hydrogen sulfide by pathogenic variants of cystathionine beta-synthase using hemoglobin I of Lucina pectinata as a biosensor. Free radical biology & medicine. 2024-07-27. PMID:39067625. |
classical homocystinuria is a rare disease caused by mutations in cystathionine β-synthase( cbs) gene (omim 613381). |
2024-07-27 |
2024-08-02 |
Not clear |
| Ela Mijatovic, Kelly Ascenção, Csaba Szabo, Tomas Majta. Cellular turnover and degradation of the most common missense cystathionine beta-synthase variants causing homocystinuria. Protein science : a publication of the Protein Society. vol 33. issue 8. 2024-07-23. PMID:39041895. |
homocystinuria (hcu) due to cystathionine beta-synthase (cbs) deficiency is the most common inborn error of sulfur amino acid metabolism. |
2024-07-23 |
2024-07-25 |
human |
| Tomas Majtan, Thomas Olsen, Jitka Sokolova, Jakub Krijt, Michaela Křížková, Tomoaki Ida, Tamás Ditrói, Hana Hansikova, Ondrej Vit, Jiri Petrak, Ladislav Kuchař, Warren D Kruger, Péter Nagy, Takaaki Akaike, Viktor Kožic. Deciphering pathophysiological mechanisms underlying cystathionine beta-synthase-deficient homocystinuria using targeted metabolomics, liver proteomics, sphingolipidomics and analysis of mitochondrial function. Redox biology. vol 73. 2024-06-06. PMID:38843767. |
cystathionine β-synthase (cbs)-deficient homocystinuria (hcu) is an inherited disorder of sulfur amino acid metabolism with varying severity and organ complications, and a limited knowledge about underlying pathophysiological processes. |
2024-06-06 |
2024-06-10 |
mouse |
| Duaa W Al-Sadeq, Angelos Thanassoulas, Maria Theodoridou, Gheyath K Nasrallah, Michail Nomiko. Pathogenic Homocystinuria-Associated T236N Mutation Dramatically Alters the Biochemical Properties of Cystathionine Beta-Synthase Protein. Biomedicines. vol 12. issue 5. 2024-05-25. PMID:38790892. |
cystathione beta-synthase (cbs) t236n is a novel mutation associated with pyridoxine non-responsiveness, which presents a significant difficulty in the medical treatment of homocystinuria. |
2024-05-25 |
2024-05-27 |
Not clear |
| Karina Carvalho Donis, Marco Antônio Baptista Kalil, Fabiano Poswar, Fernando Kok, Charles Lubianca Kohem, Soraia Poloni, Taciane Borsatto, Filippo Pinto E Vairo, Franciele Cabral Pinheiro, Ida Vanessa Doederlein Schwart. An adult with cystathionine beta-synthase deficiency, camptodactyly-arthropathy-coxa vara-pericarditis syndrome, and deafness: A case report. Genetics and molecular biology. vol 47. issue 1. 2024-04-09. PMID:38593426. |
he was biochemically diagnosed as having classic homocystinuria (hcu); sanger sequencing of the cbs gene showed the genotype nm_000071.2(cbs):c.[833t>c];[833t>c], compatible with the diagnosis of pyridoxine-responsive hcu. |
2024-04-09 |
2024-04-12 |
Not clear |
| Duaa Al-Sadeq, Carolina Conter, Angelos Thanassoulas, Nader Al-Dewik, Bared Safieh-Garabedian, Luis Alfonso Luis Alfonso Martínez-Cruz, Gheyath Nasrallah, Alessandra Astegno, Michail Nomiko. Biochemical and structural impact of two novel missense mutations in cystathionine beta-synthase gene associated with homocystinuria. The Biochemical journal. 2024-04-02. PMID:38563463. |
homocystinuria is a rare disease caused by mutations in the cbs gene that results in a deficiency of cystathionine β-synthase (cbs). |
2024-04-02 |
2024-04-04 |
Not clear |
| Mylène Perreault, Jillian Means, Erik Gerson, Michael James, Sean Cotton, Christopher G Bergeron, Mark Simon, Dylan Alexander Carlin, Nathan Schmidt, Theodore C Moore, Julie Blasbalg, Neal Sondheimer, Kenneth Ndugga-Kabuye, William S Denney, Vincent M Isabella, David Lubkowicz, Aoife Brennan, David L Hav. The live biotherapeutic SYNB1353 decreases plasma methionine via directed degradation in animal models and healthy volunteers. Cell host & microbe. 2024-02-03. PMID:38309259. |
inborn errors of methionine metabolism resulting from loss of function in cystathionine β-synthase (cbs) cause classic homocystinuria (hcu), which is managed by a methionine-restricted diet. |
2024-02-03 |
2024-02-06 |
mouse |
| Renata Collard, Tomas Majta. Genetic and Pharmacological Modulation of Cellular Proteostasis Leads to Partial Functional Rescue of Homocystinuria-Causing Cystathionine-Beta Synthase Variants. Molecular and cellular biology. 2023-12-05. PMID:38051092. |
homocystinuria (hcu), an inherited metabolic disorder caused by lack of cystathionine beta-synthase (cbs) activity, is chiefly caused by misfolding of single amino acid residue missense pathogenic variants. |
2023-12-05 |
2023-12-10 |
human |
| Shira G Ziegler, Jiyoung Kim, Jeffrey T Ehmsen, Hilary J Verno. Inborn errors of amino acid metabolism - from underlying pathophysiology to therapeutic advances. Disease models & mechanisms. vol 16. issue 11. 2023-11-23. PMID:37994477. |
in this clinical puzzle, we discuss the pathophysiology, clinical features and management of three disorders that showcase the diverse clinical presentations of disorders of amino acid metabolism: phenylketonuria, lysinuric protein intolerance and homocystinuria due to cystathionine β-synthase (cbs) deficiency. |
2023-11-23 |
2023-11-29 |
Not clear |
| Adila Khalil, Haq Nawaz Khan, Muhammad Wasim, Hina Ayesha, Fazli Rabbi Awa. Development of low-cost in-house tetra-ARMS-PCR assay for the screening of five Nucleosides, nucleotides & nucleic acids. 2023-11-16. PMID:37971987. |
development of low-cost in-house tetra-arms-pcr assay for the screening of five classical homocystinuria is an inborn amino acid metabolism disorder resulting from mutations in the cystathionine-β-synthase (cbs) gene. |
2023-11-16 |
2023-11-20 |
Not clear |
| Małgorzata Batycka, Ewa Lange, Ewa Ehmke Vel Emczyńska-Seliga, Maciej Jaworski, Maria Kobylińska, Natalia Lech, Emilia Samborowska, Patryk Lipiński, Barbara Perkowska, Paulina Pokora, Dariusz Rokick. Relationship between Bone Mineral Density and Selected Parameters of Calcium-Phosphate Economy with Dietary Management and Metabolic Control in Polish Pediatric Patients with Classical Homocystinuria-A Preliminary Study. Nutrients. vol 15. issue 9. 2023-07-11. PMID:37432246. |
classical homocystinuria (hcu) is an inborn defect of methionine metabolism caused by a deficiency of the enzyme cystathionine β-synthase (cbs). |
2023-07-11 |
2023-08-14 |
Not clear |
| Sapna Gupta, Hyung-Ok Lee, Liqun Wang, Warren D Kruge. Examination of two different proteasome inhibitors in reactivating mutant human cystathionine β-synthase in mice. PloS one. vol 18. issue 6. 2023-06-15. PMID:37319242. |
classic homocystinuria is an inborn error of metabolism caused mainly by missense mutations leading to misfolded and/or unstable human cystathionine β-synthase (cbs) protein, causing the accumulation of excess total homocysteine (thcy) in tissues. |
2023-06-15 |
2023-08-14 |
mouse |
| Nadeesha Samarasinghe, Dinithi Mahaliyanage, Sumadee De Silva, Eresha Jasinge, Nimal Punyasiri, H W Dilanth. Association of selected genetic variants in CBS and MTHFR genes in a cohort of children with homocystinuria in Sri Lanka. Journal, genetic engineering & biotechnology. vol 20. issue 1. 2022-12-13. PMID:36512268. |
association of selected genetic variants in cbs and mthfr genes in a cohort of children with homocystinuria in sri lanka. |
2022-12-13 |
2023-08-14 |
Not clear |
| Tomas Majtan, Viktor Kožich, Warren D Kruge. Emerging therapeutic approaches to cystathionine beta-synthase-deficient homocystinuria. British journal of pharmacology. 2022-11-23. PMID:36417581. |
cystathionine beta-synthase (cbs)-deficient homocystinuria (hcu) is the most common inborn error of sulfur amino acid metabolism. |
2022-11-23 |
2023-08-14 |
Not clear |
| Runjun D Kumar, Linyan Meng, Pengfei Liu, Christina Y Miyake, Kim C Worley, Weimin Bi, Seema R Lalan. Clinical exome sequencing uncovers a high frequency of Mendelian disorders in infants with stroke: A retrospective analysis. American journal of medical genetics. Part A. 2022-09-06. PMID:36065636. |
we identified several syndromes that predispose to stroke such as col4a1-related brain small vessel disease, homocystinuria caused by cbs mutation, polg-related disorders, ttc19-linked mitochondrial disease, and rnaseh2a associated aicardi-goutieres syndrome. |
2022-09-06 |
2023-08-14 |
Not clear |
| Mehzabeen Rahman, Mohita Sharma, Pragati Aggarwal, Silkee Singla, Neha Jai. Homocystinuria and ocular complications - A review. Indian journal of ophthalmology. vol 70. issue 7. 2022-07-06. PMID:35791106. |
homocystinuria is a rare metabolic inborn disorder caused due to dysfunctional cystathionine β-synthase (cbs) enzyme activity, thus resulting in elevated levels of methionine and homocysteine in the blood and urine. |
2022-07-06 |
2023-08-14 |
Not clear |
| D X Li, Z H Chen, Y Jin, J Q Song, M Q Li, Y P Liu, X Y Li, Y X Chen, Y N Zhang, G Y Lyu, L Y Sun, Z J Zhu, Y Zhang, Y L Yan. [Clinical characteristics and CBS gene analysis of 13 cases with classic homocystinuria]. Zhonghua er ke za zhi = Chinese journal of pediatrics. vol 60. issue 6. 2022-06-06. PMID:35658358. |
[clinical characteristics and cbs gene analysis of 13 cases with classic homocystinuria]. |
2022-06-06 |
2023-08-14 |
Not clear |