Proteomics

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CLN6 deficiency causes selective changes in the lysosomal protein composition

ABSTRACT: Neuronal Ceroid Lipofuscinosis 6 (NCL6) is a neurodegenerative, lysosomal storage disease. It is caused by a deficiency of the transmembrane protein ceroid-lipofuscinosis neuronal protein 6 (CLN6) that resides in the endoplasmic reticulum. In this project the lysosomal proteome changes in NCL6 were investigated. Therefore, lysosomes were purifiedfrom liver tissue of CLN6 knock-out mice, the proteins were labeled by TMT and the CLN6 proteome was compared to wild type controls. Lysosome purification was obtained by either isolation of tritosomes or differential centrifugation generating 20,000 g pellets.

INSTRUMENT(S): Orbitrap Fusion Lumos, Orbitrap Fusion

ORGANISM(S): Mus Musculus (mouse)

TISSUE(S): Hepatocyte, Liver

DISEASE(S): Neuronal Ceroid Lipofuscinosis 6

SUBMITTER: Melanie Thelen  

LAB HEAD: Prof. Volkmar Gieselmann

PROVIDER: PXD016599 | Pride | 2024-10-28

REPOSITORIES: Pride

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CLN6 deficiency causes selective changes in the lysosomal protein composition.

Tuermer Andreas A   Mausbach Simone S   Kaade Edgar E   Damme Markus M   Sylvester Marc M   Gieselmann Volkmar V   Thelen Melanie M  

Proteomics 20210909 19

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 them being CLN6, a transmembrane protein resident in the endoplasmic reticulum. Dysfunc  ...[more]

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