Associated Papers
The molecular basis of tRNA selectivity by human pseudouridine synthase 3.
Lin TY et al.
Molecular Cell, 2024
38996458 (PubMed )
Supplement: mmc4.pdf
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM10_ESM.xlsx › Sheet1
The importance of pseudouridylation: human disorders related to the fifth nucleoside.
Keszthelyi TM et al.
Biologia Futura, 2023
Destabilization of mutated human PUS3 protein causes intellectual disability.
Lin TY et al.
Human Mutation, 2022
Clinical and molecular delineation of PUS3-associated neurodevelopmental disorders.
Nøstvik M et al.
Clinical Genetics, 2021
Compound heterozygous mutations in PUS3 gene identified in a Chinese infant with severe epileptic encephalopathy and multiple malformations.
Fang H et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2020
PUS3 mutations are associated with intellectual disability, leukoencephalopathy, and nephropathy.
de Paiva ARB et al.
Neurology. Genetics, 2019
A null variant in PUS3 confirms its involvement in intellectual disability and further delineates the associated neurodevelopmental disease.
Abdelrahman HA et al.
Clinical Genetics, 2018
A homozygous truncating mutation in PUS3 expands the role of tRNA modification in normal cognition.
Shaheen R et al.
Human Genetics, 2016
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