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Article

Lipidomic and Transcriptomic Basis of Lysosomal Dysfunction in Progranulin Deficiency

1 Sept 2017

Abstract excerpt

Defective lysosomal function defines many neurodegenerative diseases, such as neuronal ceroid lipofuscinoses (NCL) and Niemann-Pick type C (NPC), and is implicated in Alzheimer's disease (AD) and frontotemporal lobar degeneration (FTLD-TDP) with progranulin (PGRN) deficiency. Here, we show that PGRN is involved in lysosomal homeostasis and lipid metabolism. PGRN deficiency alters lysosome abundance and morphology...

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PMID: 28903038
DOI: 10.1016/j.celrep.2017.08.056

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