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Items: 12

Select item 110379291.

Identifying potential dietary treatments for inherited metabolic disorders using Drosophila nutrigenomics

Felipe Martelli, Jiayi Lin, Sarah Mele, Wendy Imlach, Oguz Kanca, Christopher K. Barlow, Jefferson Paril, Ralf B. Schittenhelm, John Christodoulou, Hugo J. Bellen, Matthew D.W. Piper, Travis K. Johnson

Cell Rep. Author manuscript; available in PMC 2024 Apr 23.

Published in final edited form as: Cell Rep. 2024 Mar 26; 43(3): 113861. Published online 2024 Feb 27. doi: 10.1016/j.celrep.2024.113861

PMCID:: PMC11037929

Abstract Article PDF–1.9M

Select item 109425452.

Hypoxia-inducible factor induces cysteine dioxygenase and promotes cysteine homeostasis in Caenorhabditis elegans

Kurt Warnhoff, Sushila Bhattacharya, Jennifer Snoozy, Peter C Breen, Gary Ruvkun

eLife. 2024; 12: RP89173. Published online 2024 Feb 13. doi: 10.7554/eLife.89173

PMCID:: PMC10942545

Abstract Article PDF–3.0M

Select item 96152553.

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

Jia-Tong Li, Ze-Xu Chen, Xiang-Jun Chen, Yong-Xiang Jiang

Orphanet J Rare Dis. 2022; 17: 392. Published online 2022 Oct 27. doi: 10.1186/s13023-022-02544-x

PMCID:: PMC9615255

Abstract Article PDF–7.3M

Select item 82080444.

Postmortem whole-genome sequencing on a dried blood spot identifies a novel homozygous SUOX variant causing isolated sulfite oxidase deficiency

Mallory J. Owen, Jerica Lenberg, Annette Feigenbaum, Jeffrey Gold, Kevin Chau, Zaira Bezares-Orin, Yan Ding, Shimul Chowdhury, Stephen F. Kingsmore

Cold Spring Harb Mol Case Stud. 2021 Jun; 7(3): a006091. doi: 10.1101/mcs.a006091

PMCID:: PMC8208044

Abstract Article PDF–2.0M

Select item 80771645.

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

Peng Du, Reem N. Hassan, Hualei Luo, Jie Xie, Yue Zhu, Qiuyue Hu, Jin Yan, Weiying Jiang

Mol Genet Genomic Med. 2021 Feb; 9(2): e1590. Published online 2021 Jan 6. doi: 10.1002/mgg3.1590

PMCID:: PMC8077164

Abstract Article PDF–1.2M

Select item 77844866.

Isolated sulfite oxidase deficiency: a founder mutation

Aizeddin A. Mhanni, Cheryl R. Greenberg, Elizabeth L. Spriggs, Ronald Agatep, Reena Ray Sisk, Chitra Prasad

Cold Spring Harb Mol Case Stud. 2020 Dec; 6(6): a005900. doi: 10.1101/mcs.a005900

PMCID:: PMC7784486

Abstract Article PDF–424K

Select item 77113027.

The role of glutamate oxaloacetate transaminases in sulfite biosynthesis and H₂S metabolism

Anna-Theresa Mellis, Albert L. Misko, Sita Arjune, Ye Liang, Katalin Erdélyi, Tamás Ditrói, Alexander T. Kaczmarek, Peter Nagy, Guenter Schwarz

Redox Biol. 2021 Jan; 38: 101800. Published online 2020 Nov 24. doi: 10.1016/j.redox.2020.101800

PMCID:: PMC7711302

Abstract Article PDF–6.1M

Select item 69271728.

Stable clinical course in three siblings with late-onset isolated sulfite oxidase deficiency: a case series and literature review

Maoqiang Tian, Yi Qu, Lingyi Huang, Xiaojuan Su, Shiping Li, Junjie Ying, Fengyan Zhao, Dezhi Mu

BMC Pediatr. 2019; 19: 510. Published online 2019 Dec 23. doi: 10.1186/s12887-019-1889-5

PMCID:: PMC6927172

Abstract Article PDF–1.5M

Select item 54771599.

Prenatal brain disruption in isolated sulfite oxidase deficiency

Hsiu-Fen Lee, Ching-Shiang Chi, Chi-Ren Tsai, Hung-Chieh Chen, I-Chun Lee

Orphanet J Rare Dis. 2017; 12: 115. Published online 2017 Jun 19. doi: 10.1186/s13023-017-0668-3

PMCID:: PMC5477159

Abstract Article PDF–1.1M

Select item 499345110.

Molybdenum cofactor and isolated sulphite oxidase deficiencies: Clinical and molecular spectrum among Egyptian patients

Maha S. Zaki, Laila Selim, Hala T. EL-Bassyouni, Mahmoud Y. Issa, Iman Mahmoud, Samira Ismail, Mariane Girgis, Abdelrahim A. Sadek, Joseph G. Gleeson, Mohamed S. Abdel Hamid

Eur J Paediatr Neurol. Author manuscript; available in PMC 2016 Sep 1.

Published in final edited form as: Eur J Paediatr Neurol. 2016 Sep; 20(5): 714–722. Published online 2016 May 30. doi: 10.1016/j.ejpn.2016.05.011