Article

Stem-cell modeling of cerebellar dysfunction of Angelman syndrome

2025-08-07

Abstract excerpt

Angelman syndrome (AS) is a severe neurodevelopmental disorder caused by the loss of function of the maternal allele of the neuron-specific imprinted gene UBE3A . Although AS presents with developmental delay, ataxia, epilepsy, and speech impairment, the distinct roles of various brain regions in its pathology remain unclear, hindering the design of effective therapeutic strategies. Of all brain regions, the natu...

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Literature Corpus work: ebd77bdf-3963-54b0-a928-3c1e343d8662
DOI: 10.1101/2025.08.07.669046

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