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Article

CLN6 deficiency causes selective changes in the lysosomal protein composition.

Proteomics - 1 Oct 2021

Tuermer Andreas, Mausbach Simone, Kaade Edgar, Damme Markus, Sylvester Marc, Gieselmann Volkmar, Thelen Melanie

Abstract excerpt

Neuronal ceroid lipofuscinoses (NCLs) collectively account for the highest prevalence of inherited neurodegenerative diseases in childhood. This disease group is classified by the deposition of similar autofluorescence storage material in lysosomes that is accompanied by seizures, blindness and premature mortality in later disease stages. Defects in several genes affecting various proteins lead to NCL, one of...

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PMID: 34432360
DOI: 10.1002/pmic.202100043

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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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