Article

TBCK-deficiency leads to compartment-specific mRNA and lysosomal trafficking defects in patient-derived neurons

2025-03-07

Abstract excerpt

<h4>ABSTRACT</h4> Monogenic pediatric neurodegenerative disorders can reveal fundamental cellular mechanisms that underlie selective neuronal vulnerability. TBCK-Encephaloneuronopathy (TBCKE) is a rare autosomal recessive disorder caused by stop-gain variants in the TBCK gene. Clinically, patients show evidence of profound neurodevelopmental delays, but also symptoms of progressive encephalopathy and motor neuro...

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Literature Corpus work: b0a04197-f4f8-50ba-b328-c874a926813d
DOI: 10.1101/2025.03.02.641041

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