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Article

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

Translational psychiatry - 21 Dec 2023

Soueid Jihane, Hamze Zeinab, Bedran Joe, Chahrour Maria, Boustany Rose-Mary

Abstract excerpt

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...

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Identifiers

PMID: 38129378
DOI: 10.1038/s41398-023-02702-0
PMCID: PMC10739866

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