Results 21 to 30 of about 6,561 (161)

Activation of mutant enzyme function in vivo by proteasome inhibitors and treatments that induce Hsp70. [PDF]

PLoS Genetics, 2010
Missense mutant proteins, such as those produced in individuals with genetic diseases, are often misfolded and subject to processing by intracellular quality control systems. Previously, we have shown using a yeast system that enzymatic function could be
Laishram R Singh, Sapna Gupta, Nicholaas H Honig, Jan P Kraus, Warren D Kruger   +4 more
doaj   +1 more source

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

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

Structural basis for substrate activation and regulation by cystathionine beta-synthase (CBS) domains in cystathionine β-synthase [PDF]

Proceedings of the National Academy of Sciences, 2010
The catalytic potential for H 2 S biogenesis and homocysteine clearance converge at the active site of cystathionine β-synthase (CBS), a pyridoxal phosphate-dependent enzyme. CBS catalyzes β-replacement reactions of either serine or cysteine by homocysteine to give cystathionine and water or ...
Markos, Koutmos, Omer, Kabil, Janet L, Smith, Ruma, Banerjee   +3 more
openaire   +2 more sources

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

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

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

Birth Defects Res A Clin Mol Teratol, 2012
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 ...
Tilley MM, Northrup H, Au KS.
europepmc   +4 more sources

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