Use of ZPR1 as a molecular probe for spinal muscular atrophy

摘要

The present invention is based on the discovery that ZPR1 and SMN interact in nuclear gems, and that aberrant interaction between them is associated with spinal muscular atrophy. The invention encompasses methods of diagnosing spinal muscular atrophy, methods of assaying for compounds that affect the interaction between ZPR1 and SMN, and antibodies raised against ZPR1 using a B domain epitope.