Results 11 to 20 of about 6,561 (161)

Recent therapeutic approaches to cystathionine beta‐synthase‐deficient homocystinuria [PDF]

British Journal of Pharmacology, 2023
Cystathionine beta‐synthase (CBS)‐deficient homocystinuria (HCU) is the most common inborn error of sulfur amino acid metabolism. The pyridoxine non‐responsive form of the disease manifests itself by massively increasing plasma and tissue concentrations of homocysteine, a toxic intermediate of methionine metabolism that is thought to be the major cause
Viktor Kozich, Tomáš Majtan
exaly   +4 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   +4 more sources

Identification and Functional Analysis of Cystathionine Beta-Synthase Gene Mutations in Chinese Families with Classical Homocystinuria [PDF]

Biomedicines
Background: Homocystinuria caused by cystathionine β-synthase (CBS) deficiency is the most common congenital disorder related to sulfur amino acid metabolism, manifested by neurological, vascular, and connective tissue involvement.
Xin Liu, Xinhua Liu, Jinfeng Liu, Junhong Guo, Danyao Nie, Jiantao Wang   +5 more
doaj   +2 more sources

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

Genetic and Pharmacological Modulation of Cellular Proteostasis Leads to Partial Functional Rescue of Homocystinuria-Causing Cystathionine-Beta Synthase Variants [PDF]

Molecular and Cellular Biology, 2023
Tomáš Majtan
exaly   +2 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

Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency. [PDF]

J Inherit Metab Dis, 2017
AbstractCystathionine beta‐synthase (CBS) deficiency is a rare inherited disorder in the methionine catabolic pathway, in which the impaired synthesis of cystathionine leads to accumulation of homocysteine. Patients can present to many different specialists and diagnosis is often delayed.
Morris AA, Kožich V, Santra S, Andria G, Ben-Omran TI, Chakrapani AB, Crushell E, Henderson MJ, Hochuli M, Huemer M, Janssen MC, Maillot F, Mayne PD, McNulty J, Morrison TM, Ogier H, O'Sullivan S, Pavlíková M, de Almeida IT, Terry A, Yap S, Blom HJ, Chapman KA.   +22 more
europepmc   +6 more sources

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 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