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Author

Ai Ohki

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Open access Sep 2026

Sequestration of CAPNS1 into Polyglycine Aggregates in a Cellular Model of NOTCH2NLC Repeat Expansion.

Neuronal Intranuclear Inclusion Disease (NIID) is caused by GGC repeat expansions in the 5' untranslated region of the notch 2 N-terminal like C (NOTCH2NLC) gene. An upstream open reading frame within the mutant transcript produces the NOTCH2NLC upstream open reading frame-derived polyglycine protein (uN2CpolyG) contai...

Arisa Kubokawa, Ai Ohki, Risa Ono et al. · 0 citations

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