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A novel autism-associated UBLCP1 mutation impacts proteasome regulation/activity - Translational Psychiatry

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A novel autism-associated UBLCP1 mutation impacts proteasome regulation/activity - Translational Psychiatry

The landscape of autism spectrum disorder (ASD) in Lebanon is unique because of high rates of consanguinity, shared ancestry, and increased remote consanguinity. ASD prevalence in Lebanon is 1 in 68 with a male-to-female ratio of 2:1. This study aims to investigate the impact of an inherited deletion in UBLCP1 (Ubiquitin-Like Domain-Containing CTD Phosphatase 1) on the ubiquitin-proteasome system (UPS) and proteolysis.

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A novel autism-associated UBLCP1 mutation impacts proteasome regulation/activity - Translational Psychiatry

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A novel autism-associated UBLCP1 mutation impacts proteasome regulation/activity - Translational Psychiatry

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