PXD020659

PXD020659 is an original dataset announced via ProteomeXchange.

Title	Proteomic analysis of monocyte derived macrophages from Niemann-Pick disease type C patients
Description	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.
HostingRepository	PRIDE
AnnounceDate	2025-03-13
AnnouncementXML	Submission_2025-03-13_08:27:22.988.xml
DigitalObjectIdentifier
ReviewLevel	Peer-reviewed dataset
DatasetOrigin	Original dataset
RepositorySupport	Unsupported dataset by repository
PrimarySubmitter	Stephan Mueller
SpeciesList	scientific name: Homo sapiens (Human); NCBI TaxID: 9606;
ModificationList	monohydroxylated residue; acetylated residue; iodoacetamide derivatized residue
Instrument	Q Exactive HF

Revision	Datetime	Status	ChangeLog Entry
0	2020-07-30 22:12:57	ID requested
1	2021-02-08 22:36:55	announced
2	2024-10-22 05:18:45	announced	2024-10-22: Updated project metadata.
⏵ 3	2025-03-13 08:27:23	announced	2025-03-13: Updated project metadata.

10.1038/s41467-021-21428-5;

Colombo A, Dinkel L, M, ü, ller SA, Sebastian Monasor L, Schifferer M, Cantuti-Castelvetri L, K, ö, nig J, Vidatic L, Bremova-Ertl T, Lieberman AP, Hecimovic S, Simons M, Lichtenthaler SF, Strupp M, Schneider SA, Tahirovic S, Loss of NPC1 enhances phagocytic uptake and impairs lipid trafficking in microglia. Nat Commun, 12(1):1158(2021) [pubmed]

submitter keyword: NPC, macrophage, lysosomal storage disorder

Stefan F. Lichtenthaler
contact affiliation	German Center for Neurodegenerative Diseases Munich, Neuroproteomics, Feodor-Lynen Str. 17, D-81377 Munich, Germany
contact email	stefan.lichtenthaler@dzne.de
lab head
Stephan Mueller
contact affiliation	DZNE Munich Neuroproteomics
contact email	stephan.mueller@dzne.de
dataset submitter

Dataset FTP location NOTE: Most web browsers have now discontinued native support for FTP access within the browser window. But you can usually install another FTP app (we recommend FileZilla) and configure your browser to launch the external application when you click on this FTP link. Or otherwise, launch an app that supports FTP (like FileZilla) and use this address: ftp://ftp.pride.ebi.ac.uk/pride/data/archive/2021/02/PXD020659

PRIDE project URI

• PRIDE
  1. PXD020659
     1. Label: PRIDE project
     2. Name: Proteomic analysis of monocyte derived macrophages from Niemann-Pick disease type C patients