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Article

Autism-associated R451C mutation in neuroligin3 leads to activation of the unfolded protein response in a PC12 Tet-On inducible system.

The Biochemical journal - 15 Feb 2016

Ulbrich Lisa, Favaloro Flores Lietta, Trobiani Laura, Marchetti Valentina, Patel Vruti, Pascucci Tiziana, Comoletti Davide, Marciniak Stefan J, De Jaco Antonella

Abstract excerpt

Several forms of monogenic heritable autism spectrum disorders are associated with mutations in the neuroligin genes. The autism-linked substitution R451C in neuroligin3 induces local misfolding of its extracellular domain, causing partial retention in the ER (endoplasmic reticulum) of expressing cells. We have generated a PC12 Tet-On cell model system with inducible expression of wild-type or R451C neuroligin3...

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Share to Cell Adhesion Molecules, Neuronal

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Endoplasmic Reticulum

Share to Eukaryotic Initiation Factor-2

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Source

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Identifiers

PMID: 26621873
DOI: 10.1042/BJ20150274
PMCID: PMC4747159

Genes

ATF6
EBP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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