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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 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1A human Angelman Syndrome class II pluripotent stem cell line with fluorescent paternal UBE3A reporter2025
  2. 2UBE3A reinstatement restores behaviorand proteome in an Angelman syndrome mouse model of imprinting defects2025 · 5 citations
  3. 3A stem cell-based toolkit to model Angelman syndrome caused by paternal uniparental disomy of chromosome 152025
  4. 4Dysregulation of Neuronal Activity‐Dependent Immediate Early Genes in a Mouse Model of Angelman Syndrome2025
  5. 5Multi-targeting zinc finger nuclease vector unsilences paternal UBE3A in a mouse model of Angelman syndrome2025