Article
A motor neuron disease-associated mutation produces non-glycosylated Seipin that induces ER stress and apoptosis by inactivating SERCA2b.
eLife - 29 Nov 2022
Saito Shunsuke, Ishikawa Tokiro, Ninagawa Satoshi, Okada Tetsuya, Mori Kazutoshi
Abstract excerpt
A causal relationship between endoplasmic reticulum (ER) stress and the development of neurodegenerative diseases remains controversial. Here, we focused on Seipinopathy, a dominant motor neuron disease, based on the finding that its causal gene product, Seipin, is a protein that spans the ER membrane twice. Gain-of-function mutations of Seipin produce non-glycosylated Seipin (ngSeipin), which was previously...
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