PXD020491

PXD020491 is an original dataset announced via ProteomeXchange.

Title	Pathological pathways and biomarker in Mucolipidosis type IV mice and post mortem patient.
Description	In this study we present data from the only available post-mortem mucolipidosis type IV (MLIV) patient. We characterise the brain pathology of the MLIV patient and compare it to pathology from the mice model of MLIV. Moreover, we characterise the proteins found in the MLIV patient CSF and compare it to the mice MLIV CSF. We define possible biomarkers for this devastating disease.
HostingRepository	PRIDE
AnnounceDate	2021-08-10
AnnouncementXML	Submission_2021-08-10_06:32:12.580.xml
DigitalObjectIdentifier
ReviewLevel	Peer-reviewed dataset
DatasetOrigin	Original dataset
RepositorySupport	Unsupported dataset by repository
PrimarySubmitter	Amir Prior
SpeciesList	scientific name: Homo sapiens (Human); NCBI TaxID: 9606;
ModificationList	monohydroxylated residue; acetylated residue; iodoacetamide derivatized residue; deamidated residue
Instrument	Orbitrap Fusion Lumos

Revision	Datetime	Status	ChangeLog Entry
0	2020-07-22 00:32:04	ID requested
1	2021-08-10 01:09:29	announced
⏵ 2	2021-08-10 06:32:13	announced	2021-08-10: Updated project metadata.

Vardi A, Pri-Or A, Wigoda N, Grishchuk Y, Futerman AH, Proteomics analysis of a human brain sample from a mucolipidosis type IV patient reveals pathophysiological pathways. Orphanet J Rare Dis, 16(1):39(2021) [pubmed]

10.1186/S13023-021-01679-7;

submitter keyword: brain, mice, CSF,human

Anthony H. Futerman
contact affiliation	Department of Biomolecular Sciences, Weizmann institute of Science, Israel
contact email	tony.futerman@weizmann.ac.il
lab head
Amir Prior
contact affiliation	Weizmann Institute of Science
contact email	amir.prior@weizmann.ac.il
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/2021/08/PXD020491

PRIDE project URI

• PRIDE
  1. PXD020491
     1. Label: PRIDE project
     2. Name: Pathological pathways and biomarker in Mucolipidosis type IV mice and post mortem patient.