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Disrupted neuronal maturation in Angelman syndrome-derived induced pluripotent stem cells
oleh: James J. Fink, Tiwanna M. Robinson, Noelle D. Germain, Carissa L. Sirois, Kaitlyn A. Bolduc, Amanda J. Ward, Frank Rigo, Stormy J. Chamberlain, Eric S. Levine
| Format: | Article |
|---|---|
| Diterbitkan: | Nature Portfolio 2017-04-01 |
Deskripsi
Angelman syndrome (AS) is characterized by developmental delay and intellectual disability, but the underlying pathophysiology is not well understood. Here the authors use induced pluripotent stem cell-derived neurons from AS patients and find impaired maturation of resting membrane potential and action potential firing, and defects in synaptic activity associated with the disease.