PXD050186-1

PXD050186 is an original dataset announced via ProteomeXchange.

Dataset Summary

Title	Retinal cells derived from patients with DRAM2-dependent CORD21 dystrophy exhibit key lysosomal enzyme deficiency and lysosomal content accumulation
Description	Biallelic DRAM2 mutations cause an autosomal recessive cone-rod dystrophy named CORD21 typically manifesting by the third decade of life. DRAM2 localises to the lysosomes of photoreceptor and retinal pigment epithelium (RPE) cells, however, it remains unclear how DRAM2 contributes to retinal degeneration. Herein, we have derived and characterised retinal organoids (ROs) and RPE cells from two CORD21 induced pluripotent stem cells (iPSCs) lines. CORD21 ROs and RPE manifested abnormal lipid metabolism, autophagic flux defects, aberrant lysosomal content accumulations and reduced lysosomal enzyme activity. A combined proteomics and western blot approach revealed the involvement of DRAM2 in vesicular trafficking that was further corroborated by the immunofluorescent co-localisation of DRAM2 with clathrin adaptor-related proteins AP-1 and AP-3 in ROs. Collectively, our data suggest an indispensable role for DRAM2 in the maintenance of photoreceptors and RPE cells by overseeing the transport of lysosomal enzymes.
HostingRepository	MassIVE
AnnounceDate	2024-06-03
AnnouncementXML	Submission_2024-06-03_05:16:50.913.xml
DigitalObjectIdentifier
ReviewLevel	Non peer-reviewed dataset
DatasetOrigin	Original dataset
RepositorySupport	Unsupported dataset by repository
PrimarySubmitter	Pawel Palmowski
SpeciesList	scientific name: Homo sapiens; common name: human; NCBI TaxID: 9606;
ModificationList	Oxidation; Carbamidomethyl; Acetyl
Instrument	Orbitrap Exploris 480; Orbitrap Fusion Lumos

Dataset History

Revision	Datetime	Status	ChangeLog Entry
0	2024-02-27 05:53:56	ID requested
⏵ 1	2024-06-03 05:16:51	announced

Publication List

no publication

no publication

Keyword List

submitter keyword: DRAM2, CORD21, cone-rod dystrophy, retina, lysosomal deficiency, PPT1, NPC2, CTSD, lysosome

submitter keyword: DRAM2, CORD21, cone-rod dystrophy, retina, lysosomal deficiency, PPT1, NPC2, CTSD, lysosome

Contact List

Majlinda Lako
contact affiliation	Newcastle University
contact email	majlinda.lako@newcastle.ac.uk
lab head
Pawel Palmowski
contact affiliation	Newcastle University NUPPA
contact email	pawel.palmowski@ncl.ac.uk
dataset submitter

Full Dataset Link List

MassIVE dataset URI
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MassIVE dataset URI

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://massive.ucsd.edu/v07/MSV000094178/