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CLN5 disease-causing mutations impact lysosomal biology by affecting intracellular degradation and protein trafficking.

Biochimica et biophysica acta. Molecular basis of disease - 1 Aug 2026

Kim William D, Owiar Samer A, Pyne Cassandra H, Lefrançois Stéphane, Huber Robert J

Abstract excerpt

Ceroid lipofuscinosis neuronal 5 (CLN5) disease is a subtype of neuronal ceroid lipofuscinosis (NCL, commonly known as Batten disease) that is caused by mutations in the CLN5 gene. While 70 distinct CLN5 disease-causing mutations have been documented, the pathological effects of these mutations are largely unknown. In this study, we used the model eukaryote Dictyostelium discoideum to examine the molecular and...

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Identifiers

PMID: 42031177
DOI: 10.1016/j.bbadis.2026.168273

Genes

CLN5

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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