Article

A single heterozygous mutation in <i>COG4</i> disrupts zebrafish early development via Wnt signaling

2021-05-23

Abstract excerpt

Saul-Wilson syndrome (SWS) is a rare, skeletal dysplasia with progeroid appearance and primordial dwarfism. It is caused by a heterozygous, dominant variant (p.G516R) in COG4, a subunit of the Conserved Oligomeric Golgi (COG) complex involved in intracellular vesicular transport. Our previous work has shown the intracellular disturbances caused by this mutation; however, the pathological mechanism of SWS needs fur...

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Literature Corpus work: 8153ef03-a5fe-5ca7-b1de-95d4b9f45aa9
DOI: 10.1101/2021.05.23.443307

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