Results 31 to 40 of about 26,277 (182)

Homocystinuria due to cystathionine beta-synthase (CBS) deficiency in Russia: Molecular and clinical characterization [PDF]

Molecular Genetics and Metabolism Reports, 2018
We present the results of the 45-year clinical observation of 27 Russian homocystinuria patients. We made a mutation analysis of the CBS gene for thirteen patients from eleven unrelated genealogies.
Elena Voskoboeva, Alla Semyachkina, Maria Yablonskaya, Ekaterina Nikolaeva   +3 more
doaj   +2 more sources

Thoracic Aortic Dissection in a Patient With Classical Homocystinuria: Implications for Aortic Surveillance

JIMD Reports
Classical homocystinuria (OMIM #236300), a rare inherited metabolic disorder caused by cystathionine beta‐synthase (CBS) deficiency, is characterized by markedly elevated homocysteine levels and associated multisystem complications.
Marisa Chard, Jasmin Simi Zhang, Lesley Turner   +2 more
doaj   +2 more sources

Biogenesis of Hydrogen Sulfide and Thioethers by Cystathionine Beta-Synthase

Antioxidants & Redox Signaling, 2018
Aims: The transsulfuration pathway enzymes cystathionine beta-synthase (CBS) and cystathionine gamma-lyase are thought to be the major source of hydrogen sulfide (H2S). In this study, we assessed the role of CBS in H2S biogenesis.
T. Majtan, J. Krijt, J. Sokolová, Michaela Křížková, Maria A. Ralat, J. Kent, J. Gregory, V. Kožich, J. Kraus   +8 more
semanticscholar   +3 more sources

Potential Pharmacological Chaperones for Cystathionine Beta-Synthase-Deficient Homocystinuria.

Handbook of Experimental Pharmacology, 2018
Classical homocystinuria (HCU) is the most common loss-of-function inborn error of sulfur amino acid metabolism. HCU is caused by a deficiency in enzymatic degradation of homocysteine, a toxic intermediate of methionine transformation to cysteine ...
T. Majtan, A. Pey, Paula Giménez-Mascarell, L. A. Martínez-Cruz, C. Szabó, V. Kožich, J. Kraus   +6 more
semanticscholar   +3 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

Cystathionine beta-synthase deficiency causes fat loss in mice. [PDF]

PLoS ONE, 2011
Cystathionine beta synthase (CBS) is the rate-limiting enzyme responsible for the de novo synthesis of cysteine. Patients with CBS deficiency have greatly elevated plasma total homocysteine (tHcy), decreased levels of plasma total cysteine (tCys), and ...
Sapna Gupta, Warren D Kruger
doaj   +1 more source

Key substrate recognition residues in the active site of cystathionine beta‐synthase from Toxoplasma gondii

Proteins: Structure, Function, and Bioinformatics, 2023
Cystathionine β‐synthase (CBS) catalyzes the condensation of l‐serine and l‐homocysteine to give l‐cystathionine in the transsulfuration pathway.
C. Conter, Filippo Favretto, P. Dominici, L. A. Martínez-Cruz, A. Astegno   +4 more
semanticscholar   +1 more source

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

Cystathionine beta synthase expression in mouse retina. [PDF]

Curr Eye Res, 2013
Abstract Purpose: Cystathionine β-synthase (CBS), a key enzyme in the transsulfuration metabolic pathway, converts homocysteine to cystathionine, which is converted to cysteine required for the synthesis of major retinal antioxidant glutathione (GSH).
Markand S, Tawfik A, Ha Y, Gnana-Prakasam J, Sonne S, Ganapathy V, Sen N, Xian M, Smith SB.   +8 more
europepmc   +5 more sources