Results 21 to 30 of about 12,878 (190)

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

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 H 2
Markos, Koutmos, Omer, Kabil, Janet L, Smith, Ruma, Banerjee   +3 more
openaire   +2 more sources

Interactions of the Gasotransmitters Contribute to Microvascular Tone (Dys)regulation in the Preterm Neonate [PDF]

, 2015
Background & Aims Hydrogen sulphide (H2S), nitric oxide (NO), and carbon monoxide (CO) are involved in transitional microvascular tone dysregulation in the preterm infant; however there is conflicting evidence on the interaction of these ...
Chwatko, Grażyna, Dyson, Rebecca M., Glowacki, Rafal, Kelly, Megan A., Latter, Joanna L., Palliser, Hannah K., Wright, Ian M. R.   +6 more
core   +10 more sources

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

The endogenous production of hydrogen sulphide in intrauterine tissues [PDF]

, 2009
Background: Hydrogen sulphide is a gas signalling molecule which is produced endogenously from L-cysteine via the enzymes cystathionine beta-synthase (CBS) and cystathionine gamma-lyase (CSE).
Carson, Ray J., Heptinstall, John, Patel, Pushpa, Vatish, Manu, Wang, Rui   +4 more
core   +5 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