Results 121 to 130 of about 6,314 (146)

Oxidative Stress and Iron Addiction: A Comparative Study of 1321N1 Astrocytoma and T98G Glioblastoma Cells with Differential Expression of L-Cysteine-Metabolizing Enzymes. [PDF]

Biomolecules
Jurkowska H, Jasek-Gajda E, Kaleta K, Rydz L, Szlęzak D, Wróbel M.   +5 more
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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: Gene dosage effect in trisomy 21

Biochemical and Biophysical Research Communications, 1985
The enzymatic activity of cystathionine beta synthase has been studied in fibroblasts of nine patients with regular trisomy 21. An excess of CBS activity was found in trisomy 21 with a trisomy 21/normal ratio equal to 1.66. A 1.04 ratio was found in 21q21----21 p ter monosomy; a 1.04 and 0.99 ratio was found in two 21 qter----21q22.3 monosomies; a 1.14
B, Chadefaux, M O, Rethoré, O, Raoul, I, Ceballos, M, Poissonnier, S, Gilgenkranz, D, Allard   +6 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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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
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Oligomeric status of human cystathionine beta‐synthase modulates AdoMet binding

FEBS Letters, 2016
Cystathionine beta‐synthase (CBS) plays a key role in the metabolism of sulfur‐containing amino acids. CBS is a multidomain tetrameric enzyme allosterically activated by S‐adenosylmethionine (AdoMet). Recent crystallographic analyses of engineered CBS lacking the loop made up of residues 516–525 revealed discrepancies in AdoMet binding compared to ...
Pey, Angel L., Martínez-Cruz, Luis Alfonso, Kraus, Jan P., Majtan, Tomas   +3 more
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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 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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Potential Pharmacological Chaperones for Cystathionine Beta-Synthase-Deficient Homocystinuria

2017
Classical homocystinuria (HCU) is the most common loss-of-function inbornerror of sulfur amino acid metabolism. HCU is caused by a deficiency in enzymaticdegradation of homocysteine, a toxic intermediate of methionine transformationto cysteine, chiefly due to missense mutations in the cystathionine betasynthase(CBS) gene.
Majtan, Tomas, Pey, Angel L., Gimenez-Mascarell, Paula, Martínez-Cruz, Luis Alfonso, Szabó, Csaba, Kožich, Viktor, Kraus, Jan P.   +6 more
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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
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