Results 131 to 140 of about 26,277 (182)

Multigene Screening of B-Vitamin Metabolism Pathways in Hypertensive Disorders of Pregnancy: Toward Precision Prenatal Care. [PDF]

Int J Gen Med
Zhang T.
europepmc   +1 more source

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Cystathionine beta-Synthase in hypoxia and ischemia/reperfusion: A current overview

Archives of Biochemistry and Biophysics, 2022
Besides its presence in the liver, brain, pancreas, and kidney, Cystathionine beta-Synthase (CBS) is also found in many other tissues, where it acts through regulation of hydrogen sulfide (H2S) generation and homocysteine (Hcy) metabolism, to interact ...
Hishām Al-Ward, Moussa Omorou
exaly   +4 more sources

Homocystinuria in a Family with Novel Cystathionine Beta Synthase Gene Mutations.

Clinical Laboratory, 2021
BACKGROUND 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.
Caihong Yi, Jiangping He, Juan Xu, Xiaofang Zhang, Jiao Huang   +4 more
semanticscholar   +3 more sources

A continuous spectrophotometric assay for human cystathionine beta-synthase [PDF]

Analytical Biochemistry, 2005
We report a new continuous spectrophotometric assay for human cystathionine beta-synthase (hCBS). This assay relies upon the finding that hCBS will take cysteamine in place of L-homocysteine, thereby producing thialysine. Thialysine is, in turn, decarboxylated by lysine decarboxylase, releasing CO2 that is monitored by the sequential action of ...
David B Berkowitz, Weijun Shen
exaly   +3 more sources

In silico analysis and characterization of medicinal mushroom cystathionine beta-synthase as an angiotensin converting enzyme (ACE) inhibitory protein

Comput. Biol. Chem., 2021
Angiotensin-converting enzyme (ACE) regulates blood pressure and has been implicated in several conditions including lung injury, fibrosis and Alzheimer's disease.
Neng-Yao Goh, M. F. Razif, Y. Yap, C. Ng, S. Fung   +4 more
semanticscholar   +1 more source

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
openaire   +7 more sources

Derangement of hepatic polyamine, folate, and methionine cycle metabolism in cystathionine beta-synthase-deficient homocystinuria in the presence and absence of treatment: Possible implications for pathogenesis.

Molecular Genetics and Metabolism, 2021
Cystathionine beta-synthase deficient homocystinuria (HCU) is a life-threatening disorder of sulfur metabolism. Our knowledge of the metabolic changes induced in HCU are based almost exclusively on data derived from plasma.
K. Maclean, Hua Jiang, Whitney N. Phinney, Bailey M Mclagan, James R. Roede, S. Stabler   +5 more
semanticscholar   +1 more source

Homocysteine elevation in givosiran treatment: Suggested ALAS1 siRNA effect on cystathionine beta‐synthase

Journal of Internal Medicine, 2021
Acute hepatic porphyria (AHP) is a group of rare genetic disorders of the hepatic heme synthesis, characterized by acute attacks with neurovisceral manifestations [1].
Daphne Vassiliou, Eliane Sardh
semanticscholar   +1 more source

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
openaire   +2 more sources

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
openaire   +4 more sources