Tsc1 deletion in Purkinje neurons disrupts the axon initial segment, impairing excitability and cerebellar function.

• Tác giả: Samuel P Brown, Achintya K Jena, Joanna J Osko, Joseph L Ransdell
• Ngôn ngữ: eng
• Ký hiệu phân loại: 785.13 *Trios
• Thông tin xuất bản: United States : Neurobiology of disease , 2025
• Bộ sưu tập: NCBI
• ID: 717518

Tóm tắt

Loss-of-function mutations in tuberous sclerosis 1 (TSC1) are prevalent monogenic causes of autism spectrum disorder (ASD). Selective deletion of Tsc1 from mouse cerebellar Purkinje neurons has been shown to cause several ASD-linked behavioral impairments, which are linked to reduced Purkinje neuron repetitive firing rates. We used electrophysiology methods to investigate why Purkinje neuron-specific Tsc1 deletion (Tsc1