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, Abou Jamra R, Körtel N, Soyris C, Polla DL, Safra M, Zisso A, Powell CA, Rebelo-Guiomar P, Dinges N, Morin V, Stock M, Hussain M, Shahzad M, Riazuddin S, Ahmed ZM, Pfundt R, Schwarz F, de Boer L, Reis A, Grozeva D, Raymond FL, Riazuddin S, Koolen DA, Minczuk M, Roignant JY, van Bokhoven H, Schwartz S	Am J Hum Genet	[details]	30526862	S0002-9297(18)30402-6