Results 51 to 60 of about 975,983 (211)

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

CBS domains form energy-sensing modules whose binding of adenosine ligands is disrupted by disease mutations [PDF]

, 2004
CBS domains are defined as sequence motifs that occur in several different proteins in all kingdoms of life. Although thought to be regulatory, their exact functions have been unknown.
John W. Scott, D. Grahame Hardie, Norman, D G, Miliea Anis, Scullion, Gillian A., Stewart, Greg, Scullion, Gillian A, Scott, J.W, Green, Kevin A, Simon A. Hawley, David G. Norman, Hawley, Simon A., Norman, David G., Gillian A. Scullion, Kevin A. Green, Scott, John W., Anis, Miliea, Green, Kevin A., Hardie, D. Grahame, Hawley, Simon A, Greg Stewart   +20 more
core   +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

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

Normal taurine synthesis in cystathionine beta-synthase knockout mice.

, 2004
Normal taurine synthesis in cystathionine beta-synthase knockout ...
Wei-Hsun. Chao (7982912)
core   +3 more sources

Genetic studies of the cystathionine beta‐synthase gene and myelomeningocele [PDF]

Birth Defects Research Part A: Clinical and Molecular Teratology, 2011
AbstractBACKGROUND: Among infants born with spina bifida, the most common defect is myelomeningocele (MM). The prevention of MM by maternal periconceptional folic acid (FA) supplementation has been studied extensively. The protective effect provided by FA suggests that the genes involved in folate metabolism, such as cystathionine beta‐synthase (CBS ...
Melissa M, Tilley, Hope, Northrup, Kit Sing, Au   +2 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

α-Helix in Cystathionine β-Synthase Enzyme Acts as Electron Reservoir [PDF]

, 2021
The modulation of electron density at the Pyridoxal 5-phosphate (PLP) catalytic center, due to charge transfer across the α-Helix-PLP interface, is the determining factor for the enzymatic activities in the human Cystathionine β-Synthase (hCBS) enzyme ...
Aashish , Bhatt, Aritra, Mukhopadhyaya, Md. Ehesan, Ali   +2 more
core   +1 more source

Cystathionine β-synthase is involved in cysteine biosynthesis and H2S generation in Toxoplasma gondii [PDF]

, 2020
Cystathionine beta-synthase (CBS) catalyzes the condensation of serine and homocysteine to water and cystathionine, which is then hydrolyzed to cysteine, alpha-ketobutyrate and ammonia by cystathionine gamma-lyase (CGL) in the reverse transsulfuration ...
Martínez-Cruz, Luis Alfonso, Fernández-Rodríguez, Carmen, Dominici, Paola, Astegno, Alessandra, Conter, Carolina, Fruncillo, Silvia   +5 more
core   +1 more source