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September 5, 2025Frontiers in Cell and Developmental BiologyOpen 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 study demonstrates a novel UBE3A fluorescent reporter system in human pluripotent stem cells, indicating potential for therapeutic screening.

Key Points

  • The study successfully integrates a fluorescent reporter system to monitor ube3a expression over time in human cells.
  • Analysis shows that ube3a expression gradually decreases as neurons mature, reflecting expected silencing patterns.
  • Differentiation of induced pluripotent stem cells into neural cultures allows observation of long-term neuronal maturation.
  • This model facilitates studying human-specific responses and screening for ube3a therapeutic candidates, though full restoration cannot yet be examined.

Cite This Study

Kelkar et al. (2025) studied this question.

synapsesocial.com/papers/68c23922b210217d6477abaahttps://doi.org/10.3389/fcell.2025.1665693
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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. 3Dysregulation of Neuronal Activity‐Dependent Immediate Early Genes in a Mouse Model of Angelman Syndrome2025
  4. 4A stem cell-based toolkit to model Angelman syndrome caused by paternal uniparental disomy of chromosome 152025
  5. 5Cell type-specific contributions of UBE3A to Angelman syndrome behavioral phenotypes2025 · 2 citations