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Novel patient missense mutations in the HSD17B10 gene affect dehydrogenase and mitochondrial tRNA modification functions of the encoded protein

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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
Pubmed Id:http://www.ncbi.nlm.nih.gov/pubmed?term=28888424
Publisher:Elsevier
Date of first publication:2017/09/07
Note:
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
Tag: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