PXD029618

PXD029618 is an original dataset announced via ProteomeXchange.

Title	Podocyte injury in Fabry nephropathy
Description	Current therapies for Fabry disease are based on reversing intra-cellular accumulation of globotriaosylceramide (Gb3) by enzyme replacement (ERT) or chaperone mediated stabilization, thereby alleviating lysosome dysfunction. However, the therapeutic effect in the regression of end-organ damage (ie. kidney damage) is limited. Ultrastructural analysis of serial human kidney biopsies showed that long-term use of ERT reduced Gb3 accumulation in podocytes but did not alter podocyte injury. A novel CRISPR-/CAS9-mediated -Galactosidase knockout podocyte cell line confirmed ERT-mediated reversal of Gb3 accumulation without resolution of lysosomal dysfunction. Transcriptomic-based connectivity mapping and SILAC-based quantitative proteomics identified alpha-synuclein (SNCA) accumulation as a key event mediating podocyte injury.
HostingRepository	PRIDE
AnnounceDate	2023-11-14
AnnouncementXML	Submission_2023-11-14_09:02:56.903.xml
DigitalObjectIdentifier
ReviewLevel	Peer-reviewed dataset
DatasetOrigin	Original dataset
RepositorySupport	Unsupported dataset by repository
PrimarySubmitter	Nicola Wanner
SpeciesList	scientific name: Homo sapiens (Human); NCBI TaxID: 9606;
ModificationList	6x(13)C labeled residue
Instrument	LTQ Orbitrap XL

Revision	Datetime	Status	ChangeLog Entry
0	2021-11-08 09:10:49	ID requested
1	2023-07-20 10:57:11	announced
⏵ 2	2023-11-14 09:02:58	announced	2023-11-14: Updated project metadata.

Braun F, Abed A, Sellung D, Rogg M, Woidy M, Eikrem O, Wanner N, Gambardella J, Laufer SD, Haas F, Wong MN, Dumoulin B, Rischke P, M, ü, hlig A, Sachs W, von Cossel K, Schulz K, Muschol N, Gersting SW, Muntau AC, Kretz O, Hahn O, Rinschen MM, Mauer M, Bork T, Grahammer F, Liang W, Eierhoff T, R, ö, mer W, Hansen A, Meyer-Schwesinger C, Iaccarino G, T, ø, ndel C, Marti HP, Najafian B, Puelles VG, Schell C, Huber TB, -synuclein mediates podocyte injury in Fabry nephropathy. J Clin Invest, 133(11):(2023) [pubmed]

submitter keyword: Nephropathy, CRISPR/CAS9,Fabry disease

podocyte

Nicola Wanner
contact affiliation	III. Department of Medicine, University Medical Center Hamburg-Eppendorf, Hamburg, Germany
contact email	n.wanner@uke.de
lab head
Nicola Wanner
contact affiliation	UKE Hamburg-Eppendorf
contact email	n.wanner@uke.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/2023/07/PXD029618

PRIDE project URI

• PRIDE
  1. PXD029618
     1. Label: PRIDE project
     2. Name: Podocyte injury in Fabry nephropathy