Article

Lysosomal alterations and decreased electrophysiological activity in CLN3 disease (966 bp deletion, E295K) patient-derived cortical neurons

2022-04-29

Abstract excerpt

<h4>ABSTRACT</h4> CLN3 disease is a lysosomal storage disorder associated with fatal neurodegeneration that is caused by mutations in CLN3 . Most individuals with CLN3 disease carry at least one allele with a 966 bp deletion in CLN3 which results in the deletion of exons 7 and 8. There is a need for more physiologically relevant human cell-based CLN3 disease models to better understand the cellular changes duri...

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Literature Corpus work: 3261641f-e4ee-59d7-8f81-93b37245d0ef
DOI: 10.1101/2022.04.28.489465

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