Summary:

Name	Intellectual disability (U:Y)
Description	Variants in PUS7 cause the loss of function on pseudouridylation of mRNAs and tRNAs that leads intellectual disabilities.
Related RNA reaction	U:Y
Found in RNA	tRNA
Modified Transcript	tRNA-Glu
Mapping Technology	Ψ-seq
Quantification techniques	RT-PCR, Primer extention

Enzymes connected to Intellectual disability:

Acronym	Full name	Enzyme Role	Organism	Comment
PUS7	Pseudouridylate synthase 7 homolog		Homo sapiens

 

Publications:

ID	Title	Authors	Journal	Details	PubMed Id	DOI
1055	Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly,Short Stature, and Aggressive Behavior.	de Brouwer APM	Am J Hum Genet	[details]	30526862	S0002-9297(18)30402-6