Renata Hajdu

ORCID: 0000-0003-3112-0411
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About
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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

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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