Results 11 to 20 of about 184 (130)

Identification of a novel SUOX pathogenic variants as the cause of isolated sulfite oxidase deficiency in a Chinese pedigree

Molecular Genetics & Genomic Medicine, 2021
Background Isolated sulfite oxidase deficiency (ISOD) is a life‐threatening rare autosomal recessive disorder caused by pathogenic variants in SUOX (OMIM 606887) gene.
Peng Du, Reem N. Hassan, Hualei Luo, Jie Xie, Yue Zhu, Qiuyue Hu, Jin Yan, Weiying Jiang   +7 more
doaj   +1 more source

Myelin Disruption, Neuroinflammation, and Oxidative Stress Induced by Sulfite in the Striatum of Rats Are Mitigated by the pan-PPAR agonist Bezafibrate

Cells, 2023
Sulfite predominantly accumulates in the brain of patients with isolated sulfite oxidase (ISOD) and molybdenum cofactor (MoCD) deficiencies. Patients present with severe neurological symptoms and basal ganglia alterations, the pathophysiology of which is
Nícolas Manzke Glänzel, Belisa Parmeggiani, Mateus Grings, Bianca Seminotti, Morgana Brondani, Larissa D. Bobermin, César A. J. Ribeiro, André Quincozes-Santos, Jerry Vockley, Guilhian Leipnitz   +9 more
doaj   +1 more source

Mutation analysis of SUOX in isolated sulfite oxidase deficiency with ectopia lentis as the presenting feature: insights into genotype–phenotype correlation

Orphanet Journal of Rare Diseases, 2022
Background Isolated sulfite oxidase deficiency (ISOD) caused by sulfite oxidase gene (SUOX) mutations is a rare neurometabolic disease associated with ectopia lentis (EL). However, few genotype–phenotype correlations have been established yet.
Jia-Tong Li, Ze-Xu Chen, Xiang-Jun Chen, Yong-Xiang Jiang   +3 more
doaj   +1 more source

Astrocytes produce nitric oxide via nitrite reduction in mitochondria to regulate cerebral blood flow during brain hypoxia

Cell Reports, 2023
Summary: During hypoxia, increases in cerebral blood flow maintain brain oxygen delivery. Here, we describe a mechanism of brain oxygen sensing that mediates the dilation of intraparenchymal cerebral blood vessels in response to reductions in oxygen ...
Isabel N. Christie, Shefeeq M. Theparambil, Alice Braga, Maxim Doronin, Patrick S. Hosford, Alexey Brazhe, Alexander Mascarenhas, Shereen Nizari, Anna Hadjihambi, Jack A. Wells, Adrian Hobbs, Alexey Semyanov, Andrey Y. Abramov, Plamena R. Angelova, Alexander V. Gourine   +14 more
doaj   +1 more source

A compound heterozygote case of isolated sulfite oxidase deficiency

Molecular Genetics and Metabolism Reports, 2017
We report an isolated sulfite oxidase deficiency in the first child boy of a non-consanguineous Caucasian family. He's a compound heterozygote for the sulfite oxidase gene, presenting low cystine, undetectable homocysteine and normal uric acid blood ...
Daniel Brumaru, Eric Guerin, Anne-Claire Voegeli, Didier Eyer, Michel Maitre   +4 more
doaj   +1 more source

Sulfite-induced protein radical formation in LPS aerosol-challenged mice: Implications for sulfite sensitivity in human lung disease

Redox Biology, 2018
Exposure to (bi)sulfite (HSO3–) and sulfite (SO32–) has been shown to induce a wide range of adverse reactions in sensitive individuals. Studies have shown that peroxidase-catalyzed oxidation of (bi)sulfite leads to formation of several reactive free ...
Ashutosh Kumar, Mathilde Triquigneaux, Jennifer Madenspacher, Kalina Ranguelova, John J. Bang, Michael B. Fessler, Ronald P. Mason   +6 more
doaj   +1 more source

The Mechanisms of Thiosulfate Toxicity against Saccharomyces cerevisiae

Antioxidants, 2021
Elemental sulfur and sulfite have been used to inhibit the growth of yeasts, but thiosulfate has not been reported to be toxic to yeasts. We observed that thiosulfate was more inhibitory than sulfite to Saccharomyces cerevisiae growing in a common yeast ...
Zhigang Chen, Yongzhen Xia, Huaiwei Liu, Honglei Liu, Luying Xun   +4 more
doaj   +1 more source

Sulfite Alters the Mitochondrial Network in Molybdenum Cofactor Deficiency

Frontiers in Genetics, 2021
Molybdenum cofactor deficiency (MoCD) is an autosomal recessive disorder belonging to the large family of inborn errors in metabolism. Patients typically present with encephalopathy and seizures early after birth and develop severe neurodegeneration ...
Anna-Theresa Mellis, Juliane Roeper, Albert L. Misko, Joshua Kohl, Guenter Schwarz, Guenter Schwarz   +5 more
doaj   +1 more source

Biofunctionalisation of Polypyrrole Nanowires Array with Sulfite Oxidase Coupled with the Integration of Platinum Nanoparticles for Ultrasensitive Amperometric Detection of Sulfite

Biosensors, 2023
Sulfite determination in foods and alcoholic beverages is a common requirement by food and drug administration organisations in most countries. In this study, the enzyme, sulfite oxidase (SOx), is used to biofunctionalise a platinum-nanoparticle-modified
Shahid Hussain, Samuel B. Adeloju
doaj   +1 more source

Genetic variation in ZmSO contributes to ABA response and drought tolerance in maize seedlings

Crop Journal, 2023
Water scarcity impairs maize growth and yield. Identification and deployment of superior drought-tolerance alleles is desirable for the genetic improvement of stress tolerance in maize.
Zongliang Xia, Fangfang Liu, Meiping Wang, Jiafa Chen, Zijian Zhou, Jianyu Wu   +5 more
doaj   +1 more source