PXD044025 is an
original dataset announced via ProteomeXchange.
Dataset Summary
Title | Proteomic analysis of methylmalonic acidemia fibroblasts |
Description | Methylmalonic academia (MMA) is a rare inborn error of the metabolism due to defects of the methylmalonyl-CoA mutase (MUT) enzyme that result in methylmalonic acid accumulation in the blood and increased excretion in urine. Affected patients can manifest vomiting, dehydration, hypotonia, developmental delay and failure to thrive. The emergency treatment of the newborns with MMA mainly comprises rehydration and promotion of anabolism, followed by long-term dietary management that mostly includes restriction of propiogenic amino acids by a low protein diet and carnitine and vitamin B12 supplementation. The effects of MUT deficiency on the cellular damage in patients is still unknown. Fibroblasts obtained from two distinct MMA patients were analyzed by shotgun label-free quantitative (LFQ) proteomics. |
HostingRepository | PRIDE |
AnnounceDate | 2024-06-14 |
AnnouncementXML | Submission_2024-06-14_06:18:22.333.xml |
DigitalObjectIdentifier | |
ReviewLevel | Peer-reviewed dataset |
DatasetOrigin | Original dataset |
RepositorySupport | Unsupported dataset by repository |
PrimarySubmitter | Michele Costanzo |
SpeciesList | scientific name: Homo sapiens (Human); NCBI TaxID: 9606; |
ModificationList | iodoacetamide derivatized residue |
Instrument | Orbitrap Exploris 240 |
Dataset History
Revision | Datetime | Status | ChangeLog Entry |
0 | 2023-07-24 03:30:37 | ID requested | |
⏵ 1 | 2024-06-14 06:18:22 | announced | |
Publication List
Keyword List
submitter keyword: Orbitrap Exploris,LFQ, S-Trap, fibroblasts |
Contact List
Michele Costanzo |
contact affiliation | Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II |
contact email | michele.costanzo@unina.it |
lab head | |
Michele Costanzo |
contact affiliation | Department of Molecular Medicine and Medical Biotechnology - University of Naples Federico II |
contact email | michele.costanzo@unina.it |
dataset submitter | |
Full Dataset Link List
Dataset FTP location
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PRIDE project URI |
Repository Record List
[ + ]
[ - ]
- PRIDE
- PXD044025
- Label: PRIDE project
- Name: Proteomic analysis of methylmalonic acidemia fibroblasts