Results 51 to 60 of about 26,277 (182)

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

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

Identification of three novel pathogenic mutations in cystathionine beta-synthase gene of Pakistani intellectually disabled patients

Journal of Pediatric Endocrinology & Metabolism (JPEM), 2021
Background Classical homocystinuria (HCU) is an autosomal recessive inborn error of metabolism, which is caused by the cystathionine-β-synthase (CBS: encoded by CBS) deficiency. Symptoms of untreated classical HCU patients include intellectual disability
M. Wasim, H. Khan, Hina Ayesha, M. Iqbal, A. Tawab, Muhammad Irfan, Warsha A. Kanhai, S. Goorden, L. Stroomer, G. Salomons, F. Vaz, C. Karnebeek, F. Awan   +12 more
semanticscholar   +1 more source

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

Frequent epigenetic silencing of the folate-metabolising gene cystathionine-beta-synthase in gastrointestinal cancer. [PDF]

PLoS ONE, 2012
Both gastric and colorectal cancers (CRC) are the most frequently occurring malignancies worldwide with the overall survival of these patients remains unsatisfied.
Hong Zhao, Qinshan Li, Jian Wang, Xianwei Su, Ka Man Ng, Tian Qiu, Ling Shan, Yun Ling, Linfang Wang, Jianqiang Cai, Jianming Ying   +10 more
doaj   +1 more source

Impact of Varicocele on The Expression of Testicular Enzymes Involved in The Transsulfuration Pathway [PDF]

International Journal of Fertility and Sterility
Background: Oxidative aggression is a hallmark of varicocele and may depend on decreased reactive ability ofthe endogenous antioxidant system following heat stress.
Azam Shiasi, Marziyeh Tavalaee, Ramesh Monajemi, Dattilo M, Mohammad Hossein Nasr-Esfahani   +4 more
doaj   +1 more source

Understanding the Impact of Mutations in the Cystathionine Beta-Synthase Gene: Towards Novel Therapeutics for Homocystinuria

Molecular and Cellular Biology
Protein misfolding and conformational instability drive protein conformational disorders, causing either accelerated degradation and loss-of-function, as in inherited metabolic disorders like lysosomal storage disorders, or toxic aggregation and gain-of ...
T. Majtan, Ela Mijatovic, Maria Petrosino   +2 more
semanticscholar   +1 more source

Givinostat rescues folding of cystathionine beta-synthase and ameliorates murine homocystinuria.

Biochemical Pharmacology
Homocystinuria (HCU) is an inherited metabolic disorder caused by missense mutations in the cystathionine beta-synthase (CBS) gene, leading to protein misfolding and degradation.
Maria Petrosino, Karim Zuhra, Ela Mijatovic, T. M. Philipp, Olivier Bremer, K. Ascenção, Csaba Szabo, T. Majtan   +7 more
semanticscholar   +1 more source

CTH/MPST double ablation results in enhanced vasorelaxation and reduced blood pressure via upregulation of the eNOS/sGC pathway

Frontiers in Pharmacology, 2023
Hydrogen sulfide (H2S), a gasotransmitter with protective effects in the cardiovascular system, is endogenously generated by three main enzymatic pathways: cystathionine gamma lyase (CTH), cystathionine beta synthase (CBS) and 3-mercaptopyruvate ...
Antonia Katsouda, Antonia Katsouda, Maria Markou, Maria Markou, Paraskevas Zampas, Paraskevas Zampas, Aimilia Varela, Constantinos H. Davos, Valentina Vellecco, Giuseppe Cirino, Mariarosaria Bucci, Andreas Papapetropoulos, Andreas Papapetropoulos   +12 more
doaj   +1 more source

Human polycomb 2 protein is a SUMO E3 ligase and alleviates substrate-induced inhibition of cystathionine beta-synthase sumoylation. [PDF]

PLoS ONE, 2008
Human cystathionine beta-synthase (CBS) catalyzes the first irreversible step in the transsulfuration pathway and commits homocysteine to the synthesis of cysteine. Mutations in CBS are the most common cause of severe hereditary hyperhomocysteinemia.
Nitish Agrawal, Ruma Banerjee
doaj   +1 more source