Summary:

NameMyotonic dystrophy type 2 (DM2) (U:Y)
DescriptionΨ modification in the CUG repeats induces structural stabilization, prevents MBNL1 binding, and rescues mis-splicing
Related RNA reactionU:Y
Modified Transcript
Mapping Technology
Quantification techniques

Enzymes connected to this disease:

Acronym Full name Enzyme Role Organism
 

Publications:

ID Title Authors Journal Details PubMed Id DOI
1083 Pseudouridine Modification Inhibits Muscleblind-like 1 (MBNL1) Binding to CCUG Repeats and Minimally Structured RNA through Reduced RNA Flexibility. Elaine deLorimier J Biol Chem [details] 28130447 10.1074/jbc.M116.770768

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