About
Contact & Profiles
Research Areas
- Endoplasmic Reticulum Stress and Disease
- RNA Research and Splicing
- Nuclear Structure and Function
- RNA regulation and disease
Innsbruck Medical University
2023-2024
Universität Innsbruck
2023-2024
10.1038/s44318-024-00208-z
article
EN
cc-by
The EMBO Journal
2024-08-19
Abstract The role of general splicing in endoplasmic reticulum (ER)-proteostasis remains poorly understood. Here, we identify SNRPB, a component the spliceosome, as novel regulator export from ER. Mechanistically, SNRPB regulates components ER machinery, including Sec16A, exit sites. Loss function is causally linked to cerebro-costo-mandibular syndrome (CCMS), genetic disease characterized by bone defects. We show that heterozygous deletion mice resulted intracellular accumulation type-1...
10.1101/2023.09.28.559974
preprint
EN
cc-by-nc-nd
bioRxiv (Cold Spring Harbor Laboratory)
2023-09-29
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