Results 11 to 20 of about 12,878 (190)

A refined total capsular bag suspension technique for lens subluxation from cystathionine beta-synthase deficiency: A case report and literature review [PDF]

American Journal of Ophthalmology Case Reports
Purpose: To report the application of a refined total capsular bag suspension technique for lens subluxation from Cystathionine beta-synthase (CBS) deficiency.
Yuezhu Lu, Yang Jiang, Zaowen Wang
doaj   +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

Pathogenic Homocystinuria-Associated T236N Mutation Dramatically Alters the Biochemical Properties of Cystathionine Beta-Synthase Protein [PDF]

Biomedicines
Background: Cystathione beta-synthase (CBS) T236N is a novel mutation associated with pyridoxine non-responsiveness, which presents a significant difficulty in the medical treatment of homocystinuria. Reported severe phenotypes in homocystinuria patients
Duaa W. Al-Sadeq, Angelos Thanassoulas, Maria Theodoridou, Gheyath K. Nasrallah, Michail Nomikos   +4 more
doaj   +2 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

H2S and homocysteine control a novel feedback regulation of cystathionine beta synthase and cystathionine gamma lyase in cardiomyocytes [PDF]

Scientific Reports, 2017
Hydrogen sulfide (H2S), a cardioprotective gas, is endogenously produced from homocysteine by cystathionine beta synthase (CBS) and cystathionine gamma lyase (CSE) enzymes.
Shyam Sundar Nandi, Paras Kumar Mishra
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

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   +5 more sources

Unraveling CBS Mutations and Their Clinical Impact in a Chinese Family With Classical Homocystinuria [PDF]

Molecular Genetics & Genomic Medicine
Background Classical homocystinuria (HCU), caused by cystathionine beta‐synthase (CBS) deficiency, exhibits significant geographic variability in its mutational spectrum.
Jingfei Zhang, Xinyu Lin, Xinmei Liu, Yilu Lu, Dachang Tao, Dan Yu, Yongxin Ma   +6 more
doaj   +2 more sources

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

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