Results 21 to 30 of about 6,314 (146)

Vascular presentation of cystathionine beta‐synthase deficiency in adulthood [PDF]

Journal of Inherited Metabolic Disease, 2010
AbstractSeveral recent studies describing a solely vascular presentation of cystathionine beta‐synthase (CBS) deficiency in adulthood prompted us to analyze the frequency of patients manifesting with vascular complications in the Czech Republic. Between 1980 and 2009, a total of 20 Czech patients with CBS deficiency have been diagnosed yielding an ...
Magner, Martin, Krupková, Lucie, Honzík, Tomáš, Zeman, Jiří, Hyánek, Josef, Kožich, Viktor   +5 more
openaire   +2 more sources

Low frequency dynamics of Cystathionine beta-synthase [PDF]

Biophysical Journal, 2009
Femtosecond coherence spectroscopy is used to study the low frequency dynamics of cystathionine beta-synthase (CBS). CBS is a pyridoxal-5′-phosphate-dependent heme enzyme with cysteine and histidine axial ligands that catalyzes the condensation of serine and homocysteine to form cystathionine.
Venugopal, Karunakaran, Sun, Yuhan, Zhang, Zhenyu, Benabbas, Abdelkrim, Singh, Sangita, Banerjee, Ruma, Champion, Paul M.   +6 more
openaire   +1 more source

Cystathionine beta-synthase (CBS) contributes to advanced ovarian cancer progression and drug resistance. [PDF]

PLoS ONE, 2013
Epithelial ovarian cancer is the leading cause of gynecologic cancer deaths. Most patients respond initially to platinum-based chemotherapy after surgical debulking, however relapse is very common and ultimately platinum resistance emerges. Understanding
Sanjib Bhattacharyya, Sounik Saha, Karuna Giri, Ian R Lanza, K Sreekumar Nair, Nicholas B Jennings, Cristian Rodriguez-Aguayo, Gabriel Lopez-Berestein, Eati Basal, Amy L Weaver, Daniel W Visscher, William Cliby, Anil K Sood, Resham Bhattacharya, Priyabrata Mukherjee   +14 more
doaj   +1 more source

One-carbon cycle alterations induced by Dyrk1a dosage

Molecular Genetics and Metabolism Reports, 2014
Hyperhomocysteinemia due to cystathionine beta synthase deficiency confers diverse clinical manifestations. It is characterized by elevated plasma homocysteine levels, a common amino acid metabolized by remethylation to methionine or transsulfuration to ...
Jean-Maurice Delabar, Alizée Latour, Christophe Noll, Marjorie Renon, Sacha Salameh, Jean-Louis Paul, Mariona Arbones, Jamileh Movassat, Nathalie Janel   +8 more
doaj   +1 more source

Ocular manifestations of homocystinuria due to cystathionine beta-synthase deficiency: A rare case report with genetic analysis

TNOA Journal of Ophthalmic Science and Research, 2020
Microspherophakia is a developmental lens anomaly characterized by increased anteroposterior diameter and reduced equatorial diameter, which predisposes to secondary glaucoma. A 12-year-old boy presented with diminution of vision.
Damaris Magdalene, Ronel Soibam, Riddhi Raichura, Saurabh Deshmukh, Surpriya Hawaibam, Krati Gupta   +5 more
doaj   +1 more source

satmut_utils: a simulation and variant calling package for multiplexed assays of variant effect

Genome Biology, 2023
The impact of millions of individual genetic variants on molecular phenotypes in coding sequences remains unknown. Multiplexed assays of variant effect (MAVEs) are scalable methods to annotate relevant variants, but existing software lacks ...
Ian Hoskins, Song Sun, Atina Cote, Frederick P. Roth, Can Cenik   +4 more
doaj   +1 more source

Sex-specific dysregulation of cysteine oxidation and the methionine and folate cycles in female cystathionine gamma-lyase null mice: a serendipitous model of the methylfolate trap

Biology Open, 2015
In addition to its role in the endogenous synthesis of cysteine, cystathionine gamma-lyase (CGL) is a major physiological source of the vasorelaxant hydrogen sulfide.
Hua Jiang, K. Joseph Hurt, Kelsey Breen, Sally P. Stabler, Robert H. Allen, David J. Orlicky, Kenneth N. Maclean   +6 more
doaj   +1 more source

Homocystinuria due to cystathionine beta synthase deficiency

Indian Journal of Dermatology, Venereology and Leprology, 2008
A two year-old male child presented with cutis marmorata congenita universalis, brittle hair, mild mental retardation, and finger spasms. Biochemical findings include increased levels of homocysteine in the blood-106.62 micromol/L (normal levels: 5.90-16 micromol/L).
Rao, T Narayana, Radhakrishna, K, Mohana, Rao TS, Guruprasad, P, Ahmed, Kamal   +4 more
openaire   +2 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 ...
Weijun, Shen, Molly K, McGath, Ruby, Evande, David B, Berkowitz   +3 more
openaire   +2 more sources

Memantine Protects From Exacerbation of Ischemic Stroke and Blood Brain Barrier Disruption in Mild But Not Severe Hyperhomocysteinemia

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2020
Background Hyperhomocysteinemia is a risk factor for ischemic stroke; however, a targeted treatment strategy is lacking partly because of limited understanding of the causal role of homocysteine in cerebrovascular pathogenesis.
Sean X. Gu, Vijay K. Sonkar, Parmeshwar B. Katare, Rahul Kumar, Warren D. Kruger, Erland Arning, Teodoro Bottiglieri, Steven R. Lentz, Sanjana Dayal   +8 more
doaj   +1 more source