Article

A human DCC variant causing mirror movement disorder reveals an essential role for the Wave regulatory complex in Netrin/DCC signaling

2022-10-17

Abstract excerpt

<h4>SUMMARY</h4> The axon guidance cue, Netrin-1, signals through its receptor DCC to attract commissural axons to the midline. Pathogenic variants in DCC frequently lead to congenital mirror movements (CMM), but how these variants impact DCC function is largely unknown. Screening of DCC in individuals with CMM recently revealed a novel variant located in a conserved motif in the cytoplasmic tail of DCC that is...

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Literature Corpus work: b595f1dc-6291-5f98-a337-eabefab8eccc
DOI: 10.1101/2022.10.13.511954

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