Novel Biallelic NSUN3 Variants Cause Early-Onset Mitochondrial Encephalomyopathy and Seizures
Novel Biallelic NSUN3 Variants Cause Early-Onset Mitochondrial Encephalomyopathy and Seizures
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Publisher
New York: Springer US
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Language
English
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New York: Springer US
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Contents
Epitranscriptomic systems enable post-transcriptional modifications of cellular RNA that are essential for regulating gene expression. Of the ~ 170 known RNA chemical modifications, methylation is among the most common. Loss of function mutations in
NSUN3
, encoding the 5-methylcytosine (m5C) methyltransferase NSun3, have been linked to multi...
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Full title
Novel Biallelic NSUN3 Variants Cause Early-Onset Mitochondrial Encephalomyopathy and Seizures
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7658056
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7658056
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ISSN
0895-8696
E-ISSN
1559-1166
DOI
10.1007/s12031-020-01595-8
