PXD012179-1

PXD012179 is an original dataset announced via ProteomeXchange.

Title	Identification of novel CSF biomarkers in GRN-associated frontotemporal dementia by proteomics
Description	Frontotemporal dementia is the second most common form of presenile dementia and autosomal dominant inheritance is present in 20-30% of cases, with mutations in granulin (GRN) as a major cause. The exact pathophysiological mechanism by which GRN mutations lead to neurodegeneration is poorly understood. We aimed to identify novel cerebrospinal fluid (CSF) biomarkers in GRN-associated frontotemporal dementia using shotgun proteomics. We included CSF from presymptomatic and symptomatic GRN mutation carriers and healthy non-carriers (controls). We validated our discovery proteomics results in a large international cohort of GRN-mutation carriers and other forms of genetic FTD (C9orf72- and MAPT-mutation carriers) by parallel reaction monitoring.
HostingRepository	PRIDE
AnnounceDate	2019-05-02
AnnouncementXML	Submission_2019-05-02_07:11:04.xml
DigitalObjectIdentifier	https://dx.doi.org/10.6019/PXD012179
ReviewLevel	Peer-reviewed dataset
DatasetOrigin	Original dataset
RepositorySupport	Supported dataset by repository
PrimarySubmitter	Christoph Stingl
SpeciesList	scientific name: Homo sapiens (Human); NCBI TaxID: 9606;
ModificationList	Label:13C(6)15N(2); Label:13C(6)15N(4); Oxidation
Instrument	Orbitrap Fusion

Revision	Datetime	Status	ChangeLog Entry
0	2018-12-24 02:15:50	ID requested
⏵ 1	2019-05-02 07:11:06	announced

van der Ende EL, Meeter LH, Stingl C, van Rooij JGJ, Stoop MP, Nijholt DAT, Sanchez-Valle R, Graff C, Ö, ijerstedt L, Grossman M, McMillan C, Pijnenburg YAL, Laforce R, Binetti G, Benussi L, Ghidoni R, Luider TM, Seelaar H, van Swieten JC, Novel CSF biomarkers in genetic frontotemporal dementia identified by proteomics. Ann Clin Transl Neurol, 6(4):698-707(2019) [pubmed]

submitter keyword: Frontotemporal dementia, biomarkers, progranulin, proteomics, mass spectrometry, PRM

Theo M. Luider
contact affiliation	Head of Laboratory of Neuro-Oncology, Neurology, Clinical & Cancer Proteomics
contact email	t.luider@erasmusmc.nl
lab head
Christoph Stingl
contact affiliation	Erasmus MC Rotterdam Department of Neurology
contact email	c.stingl@erasmusmc.nl
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/2019/04/PXD012179

PRIDE project URI

• PRIDE
  1. PXD012179
     1. Label: PRIDE project
     2. Name: Identification of novel CSF biomarkers in GRN-associated frontotemporal dementia by proteomics