Ontology highlight
ABSTRACT:
INSTRUMENT(S): Orbitrap Fusion
ORGANISM(S): Homo Sapiens (human)
TISSUE(S): Motor Neuron, Cell Culture
DISEASE(S): Amyotrophic Lateral Sclerosis
SUBMITTER: Satoshi Yokoi
LAB HEAD: Masahisa Katsuno
PROVIDER: PXD026586 | Pride | 2023-03-11
REPOSITORIES: Pride
Yokoi Satoshi S Ito Takuji T Sahashi Kentaro K Nakatochi Masahiro M Nakamura Ryoichi R Tohnai Genki G Fujioka Yusuke Y Ishigaki Shinsuke S Udagawa Tsuyoshi T Izumi Yuishin Y Morita Mitsuya M Kano Osamu O Oda Masaya M Sone Takefumi T Okano Hideyuki H Atsuta Naoki N Katsuno Masahisa M Okada Yohei Y Sobue Gen G
The Journal of neuroscience : the official journal of the Society for Neuroscience 20221019 47
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 (<i>Syngap1</i>) 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 <i>SYNGAP1</i> 3'UTR variant rs149438267 in seven (four males and three females) out of 807 ALS patients at the FUS binding site from a mult ...[more]