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Synapse
March 3, 2026Open Access

Generation and characterization of human iPSC-derived NPC1 I1061T/I10161T i 3 Neurons as a model for NPC1 disease

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Authors

SSShikha SalhotraNCNiamh X. CawleyCWChristian White

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Overview

Observational analysis reveals i3 neurons from iPSC-derived NPC1 I1061T cells model neurodegenerative features, suggesting avenues for therapy.

Key Points

  • i3 neurons demonstrate key pathological features of NPC1 disease, including cholesterol accumulation and lysosomal changes.
  • The NPC1 I1061T mutation leads to misfolded proteins that disrupt normal neuronal function.
  • Assessment using human iPSC-derived models allows for an in-depth study of neurodegenerative mechanisms relevant to NPC1.
  • This model could facilitate high-throughput drug screens, aiming to identify treatments that improve NPC1 protein stability.

Cite This Study

Salhotra et al. (2026) studied this question.

synapsesocial.com/papers/69a7612fc6e9836116a2edbbhttps://doi.org/10.64898/2026.02.11.705111
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