The SYNGAP1 3'UTR Variant in ALS Patients Causes Aberrant SYNGAP1 Splicing and Dendritic Spine Loss by Recruiting HNRNPK.

doi:10.1523/JNEUROSCI.0455-22.2022

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Article

The SYNGAP1 3'UTR Variant in ALS Patients Causes Aberrant SYNGAP1 Splicing and Dendritic Spine Loss by Recruiting HNRNPK.

The Journal of neuroscience : the official journal of the Society for Neuroscience - 23 Nov 2022

Yokoi Satoshi, Ito Takuji, Sahashi Kentaro, Nakatochi Masahiro, Nakamura Ryoichi, Tohnai Genki, Fujioka Yusuke, Ishigaki Shinsuke, Udagawa Tsuyoshi, Izumi Yuishin, Morita Mitsuya, Kano Osamu, Oda Masaya, Sone Takefumi, Okano Hideyuki, Atsuta Naoki, Katsuno Masahisa, Okada Yohei, Sobue Gen

Abstract excerpt

Fused in sarcoma (FUS) is a pathogenic RNA-binding protein in amyotrophic lateral sclerosis (ALS). We previously reported that FUS stabilizes Synaptic Ras-GTPase activating protein 1 (Syngap1) mRNA at its 3' untranslated region (UTR) and maintains spine maturation. To elucidate the pathologic roles of this mechanism in ALS patients, we identified the SYNGAP1 3'UTR variant rs149438267 in seven (four males and...

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Share to 3' Untranslated Regions

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Identifiers

PMID: 36261283
DOI: 10.1523/JNEUROSCI.0455-22.2022
PMCID: PMC9698725

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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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