Results 141 to 150 of about 12,769 (186)

The Pyridoxal-5'-Phosphate-Dependent Enzymes of <i>Mycobacterium tuberculosis</i>. [PDF]

ACS Infect Dis
Peracchi A, Baker B.
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Abnormal Trophoblast Invasion in Early-Onset Preeclampsia: The Involvement of Cystathionine β-Synthase, Specificity Protein 1 and microRNA-22. [PDF]

Cureus
Arora P, Kalra S, Dhingra R, Kshetrapal P, Bhatla N, Dwivedi S.   +5 more
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Pharmacological inhibition of hydrogen sulfide production mitigates constipation in a type 1 diabetes mouse model. [PDF]

Sci Rep
Kazemzadeh R, Badavi M, Rezaie A, Ahangarpour A, Savari F, Savari M, Mard SA.   +6 more
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Comparative Proteomic Analysis of <i>Acremonium chrysogenum</i> Strains: Key Changes Converting the Wild-Type Strain into Antibiotic Cephalosporin C Biofactory. [PDF]

J Fungi (Basel)
Zhgun AA, Dumina MV, Beletsky AV, Kopylov AT, Zgoda VG.   +4 more
europepmc   +1 more source

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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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