PXD044025

PXD044025 is an original dataset announced via ProteomeXchange.

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

Revision	Datetime	Status	ChangeLog Entry
0	2023-07-24 03:30:37	ID requested
⏵ 1	2024-06-14 06:18:22	announced

10.1186/S13578-024-01245-1;

submitter keyword: Orbitrap Exploris,LFQ, S-Trap, fibroblasts

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

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PRIDE project URI

• PRIDE
  1. PXD044025
     1. Label: PRIDE project
     2. Name: Proteomic analysis of methylmalonic acidemia fibroblasts