R180T variant of δ‐ornithine aminotransferase associated with gyrate atrophy: biochemical, computational, X‐ray andNMRstudies provide insight into its catalytic features-Reference-Cited by-同舟云学术

R180T variant of δ‐ornithine aminotransferase associated with gyrate atrophy: biochemical, computational, X‐ray andNMRstudies provide insight into its catalytic features

Published:2019-04-15 Issue: Volume: Page:
ISSN:1742-464X
Container-title:The FEBS Journal
language:en
Short-container-title:FEBS J

Author:

Montioli Riccardo¹,Paiardini Alessandro²,Giardina Giorgio²,Zanzoni Serena³,Cutruzzola Francesca²,Cellini Barbara⁴,Borri Voltattorni Carla¹

Affiliation:

1. Department of Neurosciences, Biomedicine and Movement Sciences University of Verona Italy

2. Department of Biochemical Sciences “A. Rossi Fanelli” Sapienza University of Rome Italy

3. Centro Piattaforme Tecnologiche University of Verona Italy

4. Department of Experimental Medicine University of Perugia Italy

Funder

Sapienza Università di Roma

Horizon 2020 Framework Programme

Associazione Italiana per la Ricerca sul Cancro

Fondazione Telethon

Publisher

Wiley

Subject

Cell Biology,Molecular Biology,Biochemistry

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/febs.14843

Reference36 articles.

1. Ornithine aminotransferase, an important glutamate‐metabolizing enzyme at the crossroads of multiple metabolic pathways;Ginguay A;Biology,2017

2. Molecular cloning of human ornithine aminotransferase mRNA;Inana G;Proc Natl Acad Sci USA,1986

3. Proteomics. Tissue‐based map of the human proteome;Uhlen M;Science,2015

4. Oligomeric state and thermal stability of apo‐ and holo‐ human ornithine delta‐aminotransferase;Montioli R;Protein J,2017

5. Crystal structure of human recombinant ornithine aminotransferase;Shen BW;J Mol Biol,1998

Cited by 9 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Extending diagnostic practices in gyrate atrophy: Enzymatic characterization and the development of an in vitro pyridoxine responsiveness assay;Molecular Genetics and Metabolism;2024-09

2. Biochemical Studies on Human Ornithine Aminotransferase Support a Cell-Based Enzyme Replacement Therapy in the Gyrate Atrophy of the Choroid and Retina;International Journal of Molecular Sciences;2024-07-19

3. A Novel Ornithine Aminotransferase Splice Site Mutation Causes Vitamin B6-Responsive Gyrate Atrophy;Journal of Ophthalmic and Vision Research;2024-03-10

4. Clinical, biochemical and molecular analysis in a cohort of individuals with gyrate atrophy;Orphanet Journal of Rare Diseases;2023-09-04

5. Clinical, biochemical and molecular analysis in a cohort of individuals with gyrate atrophy;2023-02-17