Functional Characterization of Loss of RNF43 Reveals Neuronal Defects in a Caenorhabditis elegans Model.

doi:10.3390/ijms27104509

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Article

Functional Characterization of Loss of RNF43 Reveals Neuronal Defects in a Caenorhabditis elegans Model.

International journal of molecular sciences - 18 May 2026

Sonmez Kaan, Güzel Sinem, Kazan Hasan Huseyin, Ekim Burcu, Kaya Cem, Turkyilmaz Zafer, Karabulut Ramazan, Ergun Mehmet Ali

Abstract excerpt

Ring finger protein 43 (RNF43) encodes a transmembrane E3 ubiquitin ligase that negatively regulates canonical Wnt signaling and is classically associated with serrated polyposis syndrome and colorectal cancer. In this study, regarding a homozygous truncating RNF43 variant (NM_001305545.1:c.1906C>T; p.Gln636Ter) in a patient segregating with a severe neurodevelopmental phenotype characterized by developmental...

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PMID: 42196486
DOI: 10.3390/ijms27104509
PMCID: PMC13208016

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