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Article

Abnormal triaging of misfolded proteins by adult neuronal ceroid lipofuscinosis-associated DNAJC5/CSPα mutants causes lipofuscin accumulation.

Autophagy - 1 Jan 2023

Lee Juhyung, Xu Yue, Saidi Layla, Xu Miao, Zinsmaier Konrad, Ye Yihong

Abstract excerpt

Mutations in DNAJC5/CSPα are associated with adult neuronal ceroid lipofuscinosis (ANCL), a dominant-inherited neurodegenerative disease featuring lysosome-derived autofluorescent storage materials (AFSMs) termed lipofuscin. Functionally, DNAJC5 has been implicated in chaperoning synaptic proteins and in misfolding-associated protein secretion (MAPS), but how DNAJC5 dysfunction causes lipofuscinosis and...

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Identifiers

PMID: 35506243
DOI: 10.1080/15548627.2022.2065618
PMCID: PMC9809949

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