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Author

K. Roche

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2 papers indexed here

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Open access Sep 2026

STEP61 is a regulator of mGluR5 expression.

Metabotropic glutamate receptor 5 (mGluR5) is a Gq protein-coupled receptor that modulates both excitatory and inhibitory neurotransmission and regulates numerous higher-order neural processes ranging from learning and memory to mood and behavior. Trafficking of mGluR5 to the plasma membrane is critical for its biologi...

Sehoon Won, K. Chang, Xiao-Bing Chen et al. · 0 citations
Open access Sep 2026

Pathogenic NLGN4X variants reveal dual roles in synaptic connectivity and cortical development

Neuroligins are synaptic adhesion molecules important for neurodevelopment, and rare, highly penetrant variants underlie neurodevelopmental disorders (NDDs). Here, we characterize a rare missense variant NLGN4X G243R identified in a pedigree with NDDs and associated with severe protein trafficking deficits. NLGN4X G2...

E. Hong, Miriam Reyes Mendez, C. Guissart et al. · 0 citations

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