Results 121 to 130 of about 6,561 (161)

Diagnosis of cystathionine beta-synthase deficiency by genetic analysis

Journal of the Neurological Sciences, 2014
Intellectual disability like other common diseases is often complex because they are genetically heterogeneous, with many different genetic defects giving rise to clinically indistinguishable phenotypes. We present diagnosis of cystathionine beta-synthase (CBS) deficiency in a multiply affected Iranian family with obvious intellectual disability based ...
Fatemeh, Suri, Mehrnaz, Narooie-Nejad, Iman, Safari, Hamidreza, Moazzeni, Mohammad-Reza, Rohani, Ali, Khajeh, Brandy, Klotzle, Jian-Bing, Fan, Elahe, Elahi   +8 more
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Cystathionine Beta Synthase as a Risk Factor for Alzheimer Disease

Current Alzheimer Research, 2004
One of the known risk factors for developing Alzheimer disease (AD) is hyperhomocysteinemia. The latter may result from mutations of the genes coding for three key enzymes involved in homocysteine metabolism (methylenetetrahydrofolate reductase [MTHFR], methionine synthase [MS], and cystathionine beta-synthase [CBS]).
Beyer, K, Lao, JI, Carrato, C, Rodriguez-Vila, A, Latorre, P, Mataro, M, Llopis, MA, Mate, JL, Ariza, A   +8 more
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Biogenesis of Hydrogen Sulfide and Thioethers by Cystathionine Beta-Synthase

Antioxidants & Redox Signaling, 2018
Aims: The transsulfuration pathway enzymes cystathionine beta-synthase (CBS) and cystathionine gamma-lyase are thought to be the major source of hydrogen sulfide (H 2 S). In this study, we assessed the role of CBS in H 2
Majtan, Tomas, Krijt, Jakub, Sokolová, Jitka, Krizkova, Michaela, Ralat, Maria A, Kent, Jana O., F. Gregory III, Jesse, Kožich, Viktor, Kraus, Jan P.   +8 more
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Hippocampal cystathionine beta synthase in young and aged mice

Neuroscience Letters, 2014
Cystathionine beta synthase (CBS) is the main contributor to the production of hydrogen sulfide (H2S) in the brain. Exogenously administered H2S has been reported to protect neurons against hypoxic injury, ischemia and LPS-induced neuro-inflammation and in the facilitating of long term potentiation (LTP).
Bruintjes, J.J., Henning, R. H., Douwenga, W., van der Zee, E. A.   +3 more
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Homocystinuria in a Family with Novel Cystathionine Beta Synthase Gene Mutations

Clinical Laboratory, 2021
Classic homocystinuria is caused by cystathionine beta synthase deficiency owing to genetic mutations. The most common symptoms are ectopia lentis, osteoporosis, thrombosis, and mental retardation. This disease is prone to misdiagnosis and delayed diagnosis.Here, we report a 19-year-old woman with Marfan's morphotype, high blood homocysteine, and a ...
Caihong, Yi, Jiangping, He, Juan, Xu, Xiaofang, Zhang, Jiao, Huang   +4 more
openaire   +2 more sources

Cystathionine ?-synthase mutations in homocystinuria

Human Mutation, 1999
The major cause of homocystinuria is mutation of the gene encoding the enzyme cystathionine beta-synthase (CBS). Deficiency of CBS activity results in elevated levels of homocysteine as well as methionine in plasma and urine and decreased levels of cystathionine and cysteine. Ninety-two different disease-associated mutations have been identified in the
Kraus, Jan P., Janosǐk, Miroslav, Kožich, Viktor, Mandell, Roseann, Shih, Vivian, Sperandeo, M. P., Sebastio, Gianfranco, De Franchis, Raffaella, Andria, Generoso, Kluijtmans, Leo A.J., Blom, Henk, Boers, Godfried H.J., Gordon, Ross B., Kamoun, Pierre, Tsai, Michael Y., Kruger, Warren D., Koch, Hans G., Ohura, Toshihiro, Gaustadnes, Mette   +18 more
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Cystathionine Beta-Synthase Deficiency or Classical Homocystinuria

2016
Inherited homocystinurias have in common accumulation of homocysteine and encompass two distinctive entities: classical homocystinuria due to cystathionine β‎-synthase (CBS) deficiency and the rare inborn errors of cobalamin and folate metabolism. The natural history of CBS deficiency, the subject of this chapter, is well described compared to the ...
Henk J. Blom, Mirian C.H. Janssen, Manuel Schiff   +2 more
openaire   +1 more source

The 844ins68 polymorphism of the cystathionine beta-synthase gene is associated with schizophrenia

Psychiatry Research, 2009
A subtle genetic defect in homocysteine metabolism is thought to play an etiologic role in schizophrenia. Cystathionine-beta-synthase (CBS) is a key enzyme related to homocysteine levels. The aim of the present study was to search for association between the 844ins68 polymorphism of the CBS gene and schizophrenia in a large Russian sample using case ...
Vera, Golimbet, Galina, Korovaitseva, Lilia, Abramova, Vasily, Kaleda   +3 more
openaire   +2 more sources

Cystathionine β-synthase (human)

1987
Publisher Summary Cystathionine β-synthase (L-serine hydro-lyase [adding homocysteine]) is a pyridoxal 5’-phosphate-dependent enzyme in the transsuifuration pathway of higher eukaryotes which catalyzes the condensation of serine and homocysteine to form cystathionine.
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Marine natural products as inhibitors of cystathionine beta-synthase activity

Bioorganic & Medicinal Chemistry Letters, 2015
A library consisting of characterized marine natural products as well as synthetic derivatives was screened for compounds capable of inhibiting the production of hydrogen sulfide (H2S) by cystathionine beta-synthase (CBS). Eight hits were validated and shown to inhibit CBS activity with IC50 values ranging from 83 to 187μM.
Megan K, Thorson, Ryan M, Van Wagoner, Mary Kay, Harper, Chris M, Ireland, Tomas, Majtan, Jan P, Kraus, Amy M, Barrios   +6 more
openaire   +2 more sources