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Role of trafficking protein particle complex 2 in medaka development.

Traffic (Copenhagen, Denmark) - 1 Jan 2024

Zappa Francesca, Intartaglia Daniela, Guarino Andrea M, De Cegli Rossella, Wilson Cathal, Salierno Francesco Giuseppe, Polishchuk Elena, Sorrentino Nicolina Cristina, Conte Ivan, De Matteis Maria Antonietta

Abstract excerpt

The skeletal dysplasia spondyloepiphyseal dysplasia tarda (SEDT) is caused by mutations in the TRAPPC2 gene, which encodes Sedlin, a component of the trafficking protein particle (TRAPP) complex that we have shown previously to be required for the export of type II collagen (Col2) from the endoplasmic reticulum. No vertebrate model for SEDT has been generated thus far. To address this gap, we generated a Sedlin...

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PMID: 37963679
DOI: 10.1111/tra.12924

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