PXD044647 is an
original dataset announced via ProteomeXchange.
Dataset Summary
Title | Neural and Metabolic Dysregulation in PMM2 deficient human in vitro neural models |
Description | PMM2-CDG is a rare inborn error of metabolism caused by deficiency of the phosphomannomutase (PMM2) enzyme, which leads to impaired protein glycosylation. While the disorder presents primarily with neurological symptoms, there is limited knowledge about the specific brain-related changes that result from PMM deficiency. We found aberrant neural activity in 2D neuronal networks from individuals with PMM2-CDG. Multi-omics datasets from 3D brain organoids derived from individuals with PMM2-CDG revealed widespread decrease in protein glycosylation, highlighting impaired glycosylation as a key pathological feature of PMM2-CDG. Further, we identified impaired mitochondrial structure and abnormal glucose metabolism in PMM2-CDG organoids indicating disturbances in energy metabolism. Correlation between PMM2 enzymatic activity in brain organoids and symptom severity suggests that the level of PMM2 enzyme function directly influences neurological manifestations. These findings enhance our understanding of specific brain-related perturbations associated with PMM2-CDG, offering insights into the underlying mechanisms and potential directions for therapeutic interventions. |
HostingRepository | PRIDE |
AnnounceDate | 2024-10-22 |
AnnouncementXML | Submission_2024-10-22_06:37:24.236.xml |
DigitalObjectIdentifier | |
ReviewLevel | Peer-reviewed dataset |
DatasetOrigin | Original dataset |
RepositorySupport | Unsupported dataset by repository |
PrimarySubmitter | Akhilesh Pandey |
SpeciesList | scientific name: Homo sapiens (Human); NCBI TaxID: 9606; |
ModificationList | monohydroxylated residue; iodoacetamide derivatized residue |
Instrument | Orbitrap Eclipse |
Dataset History
Revision | Datetime | Status | ChangeLog Entry |
0 | 2023-08-18 08:42:44 | ID requested | |
1 | 2024-04-25 12:49:06 | announced | |
⏵ 2 | 2024-10-22 06:37:24 | announced | 2024-10-22: Updated project metadata. |
Publication List
Keyword List
submitter keyword: disease model, neurodevelopmental disorder,Phosphomannomutase-2, iPSC-derived neurons, congenital disorder of glycosylation, stem cells, brain organoids |
Contact List
Akhilesh Pandey |
contact affiliation | Department of Laboratory Medicine and Pathology Mayo Clinic, Rochester, Minnesota 55905 United States |
contact email | pandey.akhilesh@mayo.edu |
lab head | |
Akhilesh Pandey |
contact affiliation | Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905 |
contact email | pandey.akhilesh@mayo.edu |
dataset submitter | |
Full Dataset Link List
Dataset FTP location
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PRIDE project URI |
Repository Record List
[ + ]
[ - ]
- PRIDE
- PXD044647
- Label: PRIDE project
- Name: Neural and Metabolic Dysregulation in PMM2 deficient human in vitro neural models