Article

A Novel Human TBCK- Neuronal Cell Model Results in Severe Neurodegeneration and Partial Rescue with Mitochondrial Fission Inhibition

2024-10-31

Abstract excerpt

<h4>Background and Objectives</h4> TBCK syndrome is a rare fatal pediatric neurodegenerative disease caused by biallelic loss-of-function mutations in the TBCK gene. Previous studies by our lab and others have implicated mTOR, autophagy, lysosomes, and intracellular mRNA transport, however the exact primary pathologic mechanism is unknown. This gap has prevented the development of targeted therapies. <h4>Method...

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Literature Corpus work: 2cbfe30e-36ba-5902-b384-74df9fc2147a
DOI: 10.1101/2024.10.30.621078

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