PXD050186
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 |
Keyword List
| 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 |
| 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/ |
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