| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| 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 |
| Muhammad Wasim, Haq N Khan, Hina Ayesha, Mazhar Iqbal, Abdul Tawab, Muhammad Irfan, Warsha Kanhai, Susanna M I Goorden, Lida Stroomer, Gajja Salomons, Frederic M Vaz, Clara D M van Karnebeek, Fazli R Awa. Identification of three novel pathogenic mutations in cystathionine beta-synthase gene of Pakistani intellectually disabled patients. Journal of pediatric endocrinology & metabolism : JPEM. 2021-12-14. PMID:34905667. |
classical homocystinuria (hcu) is an autosomal recessive inborn error of metabolism, which is caused by the cystathionine-β-synthase (cbs: encoded by |
2021-12-14 |
2023-08-13 |
Not clear |
| Mamta P Sumi, Sameer A Guru, Rashid Mir, Samantak Sahu, Musadiq A Bhat, M P Girish, Alpana Saxen. Molecular Evaluation of Exon 8 Cystathionine rs5742905T T>C Gene Polymorphism and Determination of its Frequency, Distribution Pattern, and Association with Susceptibility to Coronary Artery Disease in the North Indian Population. Cardiovascular & hematological disorders drug targets. vol 21. issue 2. 2021-12-08. PMID:33719952. |
impairment of the cbs gene leads to homocystinuria by cystathionine β synthase deficiency which is linked to coronary artery disease. |
2021-12-08 |
2023-08-13 |
Not clear |