Article

Genetic and cellular basis of impaired phagocytosis and photoreceptor degeneration in CLN3 disease

2024-06-09

Abstract excerpt

<h4>Purpose</h4> CLN3 Batten disease (also known as Juvenile Neuronal Ceroid Lipofuscinosis; JNCL) is a lysosomal storage disorder that typically initiates with retinal degeneration but is followed by seizure onset, motor decline and premature death. Patient-derived CLN3 disease iPSC-RPE cells show defective phagocytosis of photoreceptor outer segments (POSs). Because modifier genes are implicated in CLN3 disease...

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Literature Corpus work: 38a6d56c-14d3-5118-8013-9f47960d6338
DOI: 10.1101/2024.06.09.597388

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