Dataset Information

Proteomic analysis of monocyte derived macrophages from Niemann-Pick disease type C patients

ABSTRACT: Niemann-Pick type C disease is a rare neurodegenerative disorder mainly caused by mutations in Npc1, resulting in abnormal late endosomal/lysosomal lipid storage. Although microgliosis is a prominent pathological feature, direct consequences of NPC1 loss on microglial function remain uncharacterized. Previously, we have characterized microglial proteome alterations in the NPC1 KO mouse model (PXD019447). In order to investigate similar changes in humans, we have cultured monocyte derived macrophages of NPC1 patients and control donors.

INSTRUMENT(S): Q Exactive HF

ORGANISM(S): Homo Sapiens (human)

TISSUE(S): Macrophage

DISEASE(S): Niemann-pick Disease Type C1

SUBMITTER: Stephan Mueller

LAB HEAD: Stefan F. Lichtenthaler

PROVIDER: PXD020659 | Pride | 2021-02-09

REPOSITORIES: Pride

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Publications

Loss of NPC1 enhances phagocytic uptake and impairs lipid trafficking in microglia.

Colombo Alessio A Dinkel Lina L Müller Stephan A SA Sebastian Monasor Laura L Schifferer Martina M Cantuti-Castelvetri Ludovico L König Jasmin J Vidatic Lea L Bremova-Ertl Tatiana T Lieberman Andrew P AP Hecimovic Silva S Simons Mikael M Lichtenthaler Stefan F SF Strupp Michael M Schneider Susanne A SA Tahirovic Sabina S

Nature communications 20210224 1

Niemann-Pick type C disease is a rare neurodegenerative disorder mainly caused by mutations in NPC1, resulting in abnormal late endosomal/lysosomal lipid storage. Although microgliosis is a prominent pathological feature, direct consequences of NPC1 loss on microglial function remain not fully characterized. We discovered pathological proteomic signatures and phenotypes in NPC1-deficient murine models and demonstrate a cell autonomous function of NPC1 in microglia. Loss of NPC1 triggers enhanced ...[more]

PMID: 33627648

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