Deficient methylation and formylation of mt-tRNAMet wobble cytosine in a patient carrying mutations...
Deficient methylation and formylation of mt-tRNAMet wobble cytosine in a patient carrying mutations in NSUN3
About this item
Full title
Author / Creator
Van Haute, Lindsey , Dietmann, Sabine , Kremer, Laura , Hussain, Shobbir , Pearce, Sarah F. , Powell, Christopher A. , Rorbach, Joanna , Lantaff, Rebecca , Blanco, Sandra , Sauer, Sascha , Kotzaeridou, Urania , Hoffmann, Georg F. , Memari, Yasin , Kolb-Kokocinski, Anja , Durbin, Richard , Mayr, Johannes A. , Frye, Michaela , Prokisch, Holger and Minczuk, Michal
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
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Publication information
Publisher
London: Nature Publishing Group UK
Subjects
More information
Scope and Contents
Contents
Epitranscriptome modifications are required for structure and function of RNA and defects in these pathways have been associated with human disease. Here we identify the RNA target for the previously uncharacterized 5-methylcytosine (m
5
C) methyltransferase NSun3 and link m
5
C RNA modifications with energy metabolism. Using whole-exom...
Alternative Titles
Full title
Deficient methylation and formylation of mt-tRNAMet wobble cytosine in a patient carrying mutations in NSUN3
Authors, Artists and Contributors
Author / Creator
Dietmann, Sabine
Kremer, Laura
Hussain, Shobbir
Pearce, Sarah F.
Powell, Christopher A.
Rorbach, Joanna
Lantaff, Rebecca
Blanco, Sandra
Sauer, Sascha
Kotzaeridou, Urania
Hoffmann, Georg F.
Memari, Yasin
Kolb-Kokocinski, Anja
Durbin, Richard
Mayr, Johannes A.
Frye, Michaela
Prokisch, Holger
Minczuk, Michal
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_95601b7fb2264bc4b7cdfae73ac97c8e
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_95601b7fb2264bc4b7cdfae73ac97c8e
Other Identifiers
ISSN
2041-1723
E-ISSN
2041-1723
DOI
10.1038/ncomms12039
