Article

Neuronal lipofuscinosis caused by Kufs disease/CLN4 <i>DNAJC5</i> mutations but not by a CSPα/DNAJC5 deficiency

2023-05-11

Abstract excerpt

<h4>ABSTRACT</h4> Kufs disease/CLN4 is an autosomal dominant neurodegenerative disorder that affects young adults, caused by mutations in the DNAJC5 gene that encodes the synaptic vesicle co-chaperone Cysteine String Protein α (CSPα/DNAJC5). The Leu115Arg and Leu116Δ mutations in humans are known to independently cause the disease, although the underlying mechanisms are unknown. To investigate the disease mechani...

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Literature Corpus work: d5011262-636c-539e-ab51-f20bbd342154
DOI: 10.1101/2023.05.10.540177

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