Novel patient missense mutations in the HSD17B10 gene affect dehydrogenase and mitochondrial tRNA modification functions of the encoded protein
| Document Type: | Article |
|---|---|
| Language: | English |
| Author: | Stephanie Oerum, Martine Roovers, Michael Leichsenring, Cécile Acquaviva-Bourdain, Frauke Beermann, Corinne Gemperle-Britschgi, Alain Fouilhoux, Anne Korwitz-Reichelt, Henry J. Bailey, Louis Droogmans, Udo Oppermann, Jörn Oliver Sass, Wyatt W. Yue |
| Parent Title (English): | Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease |
| Volume: | 1863 |
| Issue: | 12 |
| First Page: | 3294 |
| Last Page: | 3302 |
| ISSN: | 0925-4439 |
| DOI: | https://doi.org/10.1016/j.bbadis.2017.09.002 |
| PMID: | https://pubmed.ncbi.nlm.nih.gov/28888424 |
| Publisher: | Elsevier |
| Date of first publication: | 2017/09/07 |
| Funding Information: | This work was funded by the Structural Genomics Consortium, which is a registered charity (number 1097737) that receives funds from AbbVie, Boehringer Ingelheim, the Canada Foundation for Innovation, the Canadian Institutes for Health Research, Genome Canada, T GlaxoSmithKline, Janssen, Lilly Canada, the Novartis Research Foundation, the Ontario Ministry PT of Economic Development and Innovation, Pfizer, Takeda, and the Wellcome Trust RIP (092809/Z/10/Z). The project was also supported by the “Startförderung 2016” of the Bonn-Rhein-Sieg-University of Applied Sciences to J.O.S. |
| Note: | Elsevier Open Archive |
| Keyword: | Dehydrogenase; HSD10; MRPP; Methyltransferase; Mitochondrial tRNA; tRNA processing |
| Departments, institutes and facilities: | Fachbereich Angewandte Naturwissenschaften |
| Institut für funktionale Gen-Analytik (IFGA) | |
| Dewey Decimal Classification (DDC): | 5 Naturwissenschaften und Mathematik / 57 Biowissenschaften; Biologie / 570 Biowissenschaften; Biologie |
| Entry in this database: | 2017/09/13 |
