Articles with "kctd7" as a keyword



Lysosomal dysfunction, autophagic defects, and CLN5 accumulation underlie the pathogenesis of KCTD7-mutated neuronal ceroid lipofuscinoses.

Sign Up to like & get
recommendations!
Published in 2022 at "Autophagy"

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