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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 <jats:italic>UBLCP1<\/jats:italic> (Ubiquitin-Like Domain-Containing CTD Phosphatase 1) on the ubiquitin-proteasome system (UPS) and proteolysis. Whole exome sequencing in a Lebanese family with ASD without pathogenic copy number variations (CNVs) uncovered a deletion in <jats:italic>UBLCP1<\/jats:italic>. Functional evaluation of the identified variant is described in fibroblasts from the affected. The deletion in <jats:italic>UBLCP1<\/jats:italic> exon 10 (g.158,710,261CAAAG\u2009&gt;\u2009C) generates a premature stop codon interrupting the phosphatase domain and is predicted as pathogenic. It is absent from databases of normal variation worldwide and in Lebanon. Wild-type UBLCP1 is widely expressed in mouse brains. The mutation results in decreased UBLCP1 protein expression in patient-derived fibroblasts from the autistic patient compared to controls. The truncated UBLCP1 protein results in increased proteasome activity decreased ubiquitinated protein levels, and downregulation in expression of other proteasome subunits in samples from the affected compared to controls. Inhibition of the proteasome by using MG132 in proband cells reverses alterations in gene expression due to the restoration of protein levels of the common transcription factor, NRF1. Finally, treatment with gentamicin, which promotes premature termination codon read-through, restores UBLCP1 expression and function. Discovery of an ASD-linked mutation in <jats:italic>UBLCP1<\/jats:italic> leading to overactivation of cell proteolysis is reported. This, in turn, leads to dysregulation of proteasome subunit transcript levels as a compensatory response.<\/jats:p>","DOI":"10.1038\/s41398-023-02702-0","type":"journal-article","created":{"date-parts":[[2023,12,21]],"date-time":"2023-12-21T15:03:15Z","timestamp":1703170995000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["A novel autism-associated UBLCP1 mutation impacts proteasome regulation\/activity"],"prefix":"10.1038","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1973-8705","authenticated-orcid":false,"given":"Jihane","family":"Soueid","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3753-1038","authenticated-orcid":false,"given":"Zeinab","family":"Hamze","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0001-1000-8271","authenticated-orcid":false,"given":"Joe","family":"Bedran","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3174-1480","authenticated-orcid":false,"given":"Maria","family":"Chahrour","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2066-0079","authenticated-orcid":false,"given":"Rose-Mary","family":"Boustany","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2023,12,21]]},"reference":[{"key":"2702_CR1","doi-asserted-by":"publisher","first-page":"896","DOI":"10.1016\/S0140-6736(13)61539-1","volume":"383","author":"MC Lai","year":"2014","unstructured":"Lai MC, Lombardo MV, Baron-Cohen S. 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