Results 21 to 30 of about 12,769 (186)

Recurrent venous thrombosis in an adolescent male with CBS mutation and persistent antiphospholipid antibody positivity: a case report [PDF]

Thrombosis Journal
Homocysteine (Hcy) contributes to endothelial dysfunction and impaired thrombolysis, and genetic polymorphisms that elevate plasma Hcy concentrations have been linked to an increased risk of thrombosis. Notably, mutations in the cystathionine β-synthase (
Yuebing Wang, Ru Li, Chun Li
doaj   +2 more sources

Human Cystathionine-β-Synthase Phosphorylation on Serine227 Modulates Hydrogen Sulfide Production in Human Urothelium [PDF]

, 2015
Urothelium, the epithelial lining the inner surface of human bladder, plays a key role in bladder physiology and pathology. It responds to chemical, mechanical and thermal stimuli by releasing several factors and mediators.
CIRINO, GIUSEPPE, D'EMMANUELE DI VILLA BIANCA, ROBERTA, Donnarumm, Erminia, ESPOSITO, DAVIDE, FUSCO, FERDINANDO, IANARO, ANGELA, MIRONE, VINCENZO, MITIDIERI, EMMA, RUSSO, ANNAPINA, RUSSO, GIULIA, SORRENTINO, RAFFAELLA   +10 more
core   +24 more sources

Role of 3-Mercaptopyruvate Sulfurtransferase (3-MST) in Physiology and Disease

Antioxidants, 2023
3-mercaptopyruvate sulfurtransferase (3-MST) plays the important role of producing hydrogen sulfide. Conserved from bacteria to Mammalia, this enzyme is localized in mitochondria as well as the cytoplasm. 3-MST mediates the reaction of 3-mercaptopyruvate
Swetha Pavani Rao, Prakashkumar Dobariya, Harshini Bellamkonda, Swati S. More   +3 more
doaj   +1 more source

Huntingtin interacts with cystathionine beta-synthase [PDF]

Human Molecular Genetics, 1998
We have screened a rat brain library to identify proteins which interact with the 5'-end of huntingtin (amino acids 1-171), including the polyglutamine tract, in the yeast two-hybrid system. We detected an interaction with cystathionine beta-synthase (CBS) [L-serine hydrolyase (adding homocysteine), EC 4.2.1.22], which was confirmed in vitro using His ...
J M, Boutell, J D, Wood, P S, Harper, A L, Jones   +3 more
openaire   +2 more sources

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

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