PXD007241

PXD007241 is an original dataset announced via ProteomeXchange.

Title	Uncovering the metabolic pleiotropy of FMR1-deficiency in Fragile X Syndrome
Description	ene pleiotropy defines the capacity of a gene to impact multiple phenotypic characters. The Fragile X Mental Retardation 1 (FMR1) gene is a candidate for pleiotropy, as it controls protein synthesis through its product, the translational regulator FMRP. As FMR1 loss-of-function leads to neurodevelopmental defects and Fragile X Syndrome (FXS), intellectual disability and autism, FMR1 functions have been mostly studied in the brain. FMR1-deficiency could also have yet unexplored consequences in periphery and impact metabolism through translational repression in peripheral organs. We combined 1H NMR-based metabolic phenotyping and proteomics to reveal the pleiotropic metabolic effects associated with FMR1-deficiency in mouse and human. We demonstrate that Fmr1-deficiency in the mouse increases hepatic translation, improves glucose tolerance and insulin sensitivity and reduces adiposity, while enhancing -adrenergic driven lipolysis and utilization of lipid energetic substrates. Last, we provide converging evidences in FXS patients that the levels of glucose, insulin and free fatty acids are modified, suggesting that FMR1-deficiency also drives metabolic readjustments in human. As part of a larger study investigating the involvement of fmr in metabolic alteration in fmr1-KO mice, fmr1-KO mouse livers were analysed by MS.
HostingRepository	PRIDE
AnnounceDate	2023-11-14
AnnouncementXML	Submission_2023-11-14_08:49:22.968.xml
DigitalObjectIdentifier
ReviewLevel	Peer-reviewed dataset
DatasetOrigin	Original dataset
RepositorySupport	Unsupported dataset by repository
PrimarySubmitter	Tariq Ganief
SpeciesList	scientific name: Mus musculus (Mouse); NCBI TaxID: 10090;
ModificationList	monohydroxylated residue; acetylated residue; iodoacetamide derivatized residue
Instrument	LTQ Orbitrap Elite

Revision	Datetime	Status	ChangeLog Entry
0	2017-08-10 01:06:32	ID requested
1	2022-02-28 02:59:53	announced
⏵ 2	2023-11-14 08:49:23	announced	2023-11-14: Updated project metadata.

Dataset with its publication pending

curator keyword: Biomedical

submitter keyword: gene pleiotropy,Mouse, fmr-1, liver, FXS

Boris Macek
contact affiliation	Proteome Centre Tuebingen
contact email	boris.macek@uni-tuebingen.de
lab head
Tariq Ganief
contact affiliation	Proteome centre Tubingen
contact email	tariq.ganief@ifiz.uni-tuebingen.de
dataset submitter

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://ftp.pride.ebi.ac.uk/pride/data/archive/2022/02/PXD007241

PRIDE project URI

• PRIDE
  1. PXD007241
     1. Label: PRIDE project
     2. Name: Uncovering the metabolic pleiotropy of FMR1-deficiency in Fragile X Syndrome