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