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July 14, 2025Open Access

A Human Angelman Syndrome Class II Pluripotent Stem Cell line with Fluorescent Paternal UBE3A Reporter

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Authors

GKGautami R KelkarSSSamantha R. StuppyDSDilara Sen

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Overview

This research demonstrates a ube3a reporter system in pluripotent stem cells, highlighting therapeutic potential to assess paternal ube3a expression.

Key Points

  • The fluorescent ube3a reporter system successfully tracks paternal expression in human stem cells.
  • Fluorescence dynamics reveal a reduction in ube3a expression during neuronal maturation.
  • The study employs crisp/cas9 for precise integration of reporter genes into the UBE3A locus.
  • This model aids in screening novel therapies for angelman syndrome but can't restore UBE3A function.

Cite This Study

Kelkar et al. (2025) studied this question.

synapsesocial.com/papers/689a02afe6551bb0af8cc163https://doi.org/10.1101/2025.07.12.664539
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Also Consider

Synapse has enriched 3 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1A bipartite boundary element restricts <i>UBE3A</i> imprinting to mature neurons2019 · 69 citations
  2. 2The Angelman Syndrome Protein Ube3a/E6AP Is Required for Golgi Acidification and Surface Protein Sialylation2013 · 52 citations
  3. 3mGreenLantern: a bright monomeric fluorescent protein with rapid expression and cell filling properties for neuronal imaging2020 · 193 citations