Lysosomal dysfunction, autophagic defects, and CLN5 accumulation underlie the pathogenesis of KCTD7-mutated neuronal ceroid lipofuscinoses.
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DOI: 10.1080/15548627.2022.2140882
Abstract: Lysosomes are essential catabolic organelles responsible for the degradation of biomacromolecules into low-molecular-weight materials for subsequent reuse. Neuronal ceroid lipofuscinoses (NCLs) are a group of fatal neurodegenerative lysosomal storage disorders characterized by the intracellular accumulation… read more here.
Keywords: kctd7; ceroid lipofuscinoses; kctd7 mutated; accumulation ... See more keywords