Frequent sequence variants of human glycine N-acyltransferase (GLYAT) and inborn errors of metabolism
| Document Type: | Article |
|---|---|
| Language: | English |
| Author: | Daniel Schulke, Jörn Oliver Sass |
| Parent Title (English): | Biochimie |
| Volume: | 183 |
| Issue: | April 2021 |
| First Page: | 30 |
| Last Page: | 34 |
| ISSN: | 0300-9084 |
| DOI: | https://doi.org/10.1016/j.biochi.2021.02.002 |
| PMID: | https://pubmed.ncbi.nlm.nih.gov/33567294 |
| Publisher: | Elsevier |
| Place of publication: | Paris |
| Date of first publication: | 2021/02/07 |
| Copyright: | © 2021 Elsevier B.V. and Société Française de Biochimie et Biologie Moléculaire (SFBBM). All rights reserved. |
| Funding Information: | This research was supported by Heinz und Heide Durr Stiftung and Gottfried und Julia Bangerter-Rhyner-Stiftung, both to J.O.S. D.S, is recipient of a fellowship by the Graduate Institute of BonnRhein-Sieg University of Applied Sciences. J.O.S. also gratefully acknowledges financial support by the programs FH-Struktur (`FunForGen', 322-08-03-04-02) and FH Zeit fur Forschung (`KETOplus', 005-1703-0016) of the Ministry of Culture and Science of the German State of North Rhine-Westphalia. |
| Keyword: | Glycine N-Acyltransferase (GLYAT); Glycine conjugation; Isovaleric acidemia; Organic acids; Phase II reaction; Urea cycle defect |
| Departments, institutes and facilities: | Fachbereich Angewandte Naturwissenschaften |
| Institut für funktionale Gen-Analytik (IFGA) | |
| Projects: | FunForGen - Funktionale und forensische Genomik mittels Next Generation Sequencing (DE/MKW NRW/322-08-03-04-02) |
| KETOplus - Ketonkörper: Mehr als nur Energieträger! (DE/MKW NRW/005-1703-0016) | |
| Dewey Decimal Classification (DDC): | 5 Naturwissenschaften und Mathematik / 57 Biowissenschaften; Biologie / 570 Biowissenschaften; Biologie |
| Entry in this database: | 2021/02/10 |
