Associated Papers
Microcephaly-related global developmental delay caused by a pathogenic METTL5 splicing mutation in a Chinese family.
Zhou X et al.
Journal of Human Genetics, 2025
A novel METTL5 variant disrupting a donor splice site leads to primary microcephaly-related intellectual disability in an Iranian family: clinical features and literature review.
Shakarami F et al.
Journal of Genetics, 2023
The METTL5-TRMT112 N6-methyladenosine methyltransferase complex regulates mRNA translation via 18S rRNA methylation.
Sepich-Poore C et al.
The Journal of Biological Chemistry, 2022
Division of labor in epitranscriptomics: What have we learnt from the structures of eukaryotic and viral multimeric RNA methyltransferases?
Graille M
Wiley Interdisciplinary Reviews. Rna, 2022
Three Afghani siblings with a novel homozygous variant and further delineation of the clinical features of METTL5 related intellectual disability syndrome.
Torun D et al.
The Turkish Journal of Pediatrics, 2022
Bi-allelic Variants in METTL5 Cause Autosomal-Recessive Intellectual Disability and Microcephaly.
Richard EM et al.
American Journal of Human Genetics, 2019
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