Staufen2 dysregulation in neurodegenerative disease.

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Tác giả: Warunee Dansithong, Karla P Figueroa, Mandi Gandelman, Pravin Hivare, Sharan Paul, Stefan M Pulst, Daniel R Scoles

Ngôn ngữ: eng

Ký hiệu phân loại:

Thông tin xuất bản: United States : The Journal of biological chemistry , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 123150

Staufen2 (STAU2) is an RNA binding protein that controls mRNA trafficking and expression. Previously, we showed that its paralog Staufen1 (STAU1) was overabundant in cellular and mouse models of neurodegenerative diseases and amyotrophic lateral sclerosis (ALS) patient spinal cord. Here we investigated features of STAU2 that might parallel STAU1. STAU2 protein, but not mRNA, was overabundant in spinocerebellar ataxia type 2 (SCA2), ALS/frontotemporal dementia (FTD) patient fibroblasts, ALS patient spinal cord tissues, and in central nervous system (CNS) tissues from SCA2 and ALS animal models. Exogenous expression of STAU2 in HEK293 cells activated mechanistic target of rapamycin (mTOR) and stress granule formation. Targeting STAU2 by RNAi normalized mTOR in SCA2 and C9ORF72 cellular models. The microRNA miR-217, previously identified as downregulated in SCA2 mice, targets the STAU2 3'-UTR. We now demonstrate that exogenous expression of miR-217 significantly reduced STAU2 and mTOR levels in cellular models of neurodegenerative disease. These results suggest a functional link between STAU2 and mTOR signaling and identify a major role for miR-217 that could be exploited in therapeutic development.
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