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PXD044647

PXD044647 is an original dataset announced via ProteomeXchange.

Dataset Summary
TitleNeural and Metabolic Dysregulation in PMM2 deficient human in vitro neural models
DescriptionPMM2-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.
HostingRepositoryPRIDE
AnnounceDate2024-10-22
AnnouncementXMLSubmission_2024-10-22_06:37:24.236.xml
DigitalObjectIdentifier
ReviewLevelPeer-reviewed dataset
DatasetOriginOriginal dataset
RepositorySupportUnsupported dataset by repository
PrimarySubmitterAkhilesh Pandey
SpeciesList scientific name: Homo sapiens (Human); NCBI TaxID: 9606;
ModificationListmonohydroxylated residue; iodoacetamide derivatized residue
InstrumentOrbitrap Eclipse
Dataset History
RevisionDatetimeStatusChangeLog Entry
02023-08-18 08:42:44ID requested
12024-04-25 12:49:06announced
22024-10-22 06:37:24announced2024-10-22: Updated project metadata.
Publication List
10.1016/J.CELREP.2024.113883;
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 affiliationDepartment of Laboratory Medicine and Pathology Mayo Clinic, Rochester, Minnesota 55905 United States
contact emailpandey.akhilesh@mayo.edu
lab head
Akhilesh Pandey
contact affiliationDepartment of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905
contact emailpandey.akhilesh@mayo.edu
dataset submitter
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Dataset FTP location
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PRIDE project URI
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