Measuring Enzymatic Activity of Neurodevelopmental Disorder-Associated Deubiquitylating Enzymes via an In Vitro Ubiquitin Chain Cleavage Assay

Intisar Koch; Matthew J. Schellenberg; Francisco Bustos

doi:10.3791/67367

Journal

Biochemistry

Assessing DUB Variants in Neurodevelopmental Disorders Using a Cleavage Assay

September 27, 2024

Dissecting DUB-Mediated Pathways in Neurodevelopmental Disorders Linked to Gene Variants

00:00 min

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Intisar Koch¹, Matthew J. Schellenberg², Francisco Bustos^1,3

¹Pediatrics and Rare Diseases Group,Sanford Research, ²Department of Biochemistry and Molecular Biology,Mayo Clinic, ³Department of Pediatrics, Sanford School of Medicine,University of South Dakota

Summary

This protocol explains how to measure the effect of genetic variation associated with neurodevelopmental disorders on deubiquitylating enzyme activity by combining recombinant protein purification with ubiquitin chain cleavage assays.

Assessing DUB Variants in Neurodevelopmental Disorders Using a Cleavage Assay

Dissecting DUB-Mediated Pathways in Neurodevelopmental Disorders Linked to Gene Variants

Summary

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