Article
Unique and overlapping behavioral effects of isoform-specific NRXN1 deletions.
Disease models & mechanisms - 1 Jul 2026
Friedman Amanda E, Perni Michele, Millard Josephine, Karanfilovski Damjan, Granato Michael, Campbell Philip D
Abstract excerpt
Mutations in the human neurexin 1 (NRXN1) gene are associated with neurodevelopmental disorders including autism and schizophrenia. Vertebrate NRXN1 produces three major NRXN1 isoforms, referred to as α, β and γ. Human genetic data suggest that deletions located at the 5' region of the gene disrupting the α isoform associate mostly with clinical behavioral deficits. Yet, 3' deletions that disrupt multiple...
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