Sylvie Friant

This study identifies Galectin-3 as a novel ligand for GPRC5A, demonstrating its role in mediating endocytosis of the orphan GPCR in colorectal cancer cells.

The paper identifies bi-allelic WDR47 variants as a cause of a neurodevelopmental syndrome with corpus callosum dysgenesis and associated neuroanatomical abnormalities.

The paper identifies a PSMC3 variant causing a neurosensory syndrome with deafness and cataracts due to proteotoxic stress and impaired proteasome function.

The paper identifies Cex1 as a COPI complex component involved in Golgi-to-vacuole trafficking in yeast, challenging its previously proposed role in nuclear tRNA channeling.