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Article

KCTD7 mutations impair the trafficking of lysosomal enzymes through CLN5 accumulation to cause neuronal ceroid lipofuscinoses.

Science advances - 5 Aug 2022

Wang Yalan, Cao Xiaotong, Liu Pei, Zeng Weijia, Peng Rui, Shi Qing, Feng Kai, Zhang Pingzhao, Sun Huiru, Wang Chenji, Wang Hongyan

Abstract excerpt

Lysosomes are central organelles for cellular degradation and energy metabolism. Neuronal ceroid lipofuscinoses (NCLs) are a group of the most common neurodegenerative lysosomal storage disorders characterized by intracellular accumulation of ceroid in neurons. Mutations in KCTD7, a gene encoding an adaptor of the CUL3-RING E3 ubiquitin ligase (CRL3) complex, are categorized as a unique NCL subtype. However, the...

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PMID: 35921411
DOI: 10.1126/sciadv.abm5578
PMCID: PMC9348797

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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