PUS7 Mutations Impair Pseudouridylation in Humans and Cause Intellectual Disability and Microcephaly

Pseudouridylation is the most common post-transcriptional modification wherein uridine is isomerized into 5-ribosyluracil (pseudouridine, Ψ). The resulting increase in base stacking and creation of additional hydrogen bonds are thought to enhance RNA stability. Pseudouridine synthases are encoded in...

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Veröffentlicht in:Hum Genet
Hauptverfasser: Shaheen, Ranad, Tasak, Monika, Maddirevula, Sateesh, Abdulsalam, Ghada, Alazami, Anas M., Al-Sheddi, Tarfa, Alobeid, Eman, Phizicky, Eric M., Alkuraya, Fowzan S
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2019
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7607903/
https://ncbi.nlm.nih.gov/pubmed/30778726
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-019-01980-3
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