⮝ Full datasets listing
PXD059061
PXD059061 is an original dataset announced via ProteomeXchange.
Dataset Summary
| Title | Intersecting impact of CAG repeat and Huntingtin knockout in stem cell-derived cortical neurons- Cortical Stage |
| Description | Huntington Disease (HD) is caused by a CAG repeat expansion in the gene encoding Huntingtin (HTT). While normal HTT function appears impacted by the mutation, the specific pathways unique to CAG repeat expansion versus loss of normal function are unclear. To understand the impact of the CAG repeat expansion, we evaluated biological signatures of HTT knockout (HTT KO) versus those that occur from the CAG repeat expansion by applying multi-omics, live cell imaging, survival analysis and a novel feature-based pipeline to study cortical neurons (eCNs) derived from an isogenic human embryonic stem cell series (RUES2). HTT KO and the CAG repeat expansion influence developmental trajectories of eCNs, with opposing effects on the growth. Network analyses of differentially expressed genes and proteins associated with enriched epigenetic motifs identified subnetworks common to CAG repeat expansion and HTT KO that include neuronal differentiation, cell cycle regulation, and mechanisms related to transcriptional repression and may represent gain-of-function mechanisms that cannot be explained by HTT loss of function alone. A combination of dominant and loss-of-function mechanisms are likely involved in the aberrant neurodevelopmental and neurodegenerative features of HD that can help inform therapeutic strategies. |
| HostingRepository | MassIVE |
| AnnounceDate | 2026-03-10 |
| AnnouncementXML | Submission_2026-03-10_11:32:48.582.xml |
| DigitalObjectIdentifier | |
| ReviewLevel | Non peer-reviewed dataset |
| DatasetOrigin | Original dataset |
| RepositorySupport | Unsupported dataset by repository |
| PrimarySubmitter | Niveda Sundararaman |
| SpeciesList | scientific name: Homo sapiens; common name: human; NCBI TaxID: 9606; |
| ModificationList | No PTMs are included in the dataset |
| Instrument | Orbitrap Fusion Lumos |
Dataset History
| Revision | Datetime | Status | ChangeLog Entry |
|---|---|---|---|
| 0 | 2024-12-19 15:24:44 | ID requested | |
| ⏵ 1 | 2026-03-10 11:32:49 | announced |
Publication List
| no publication |
Keyword List
| submitter keyword: embryonic stem cells, RUES2, Huntington Disease, DatasetType:Proteomics |
Contact List
| Jennifer Van Eyk | |
|---|---|
| contact affiliation | Cedars Sinai Medical Center |
| contact email | jennifer.vaneyk@cshs.org |
| lab head | |
| Niveda Sundararaman | |
| contact affiliation | Cedars SInai Medical Center |
| contact email | Niveda.Sundararaman@cshs.org |
| 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-ftp.ucsd.edu/v10/MSV000096707/ |
