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PXD014260

PXD014260 is an original dataset announced via ProteomeXchange.

Dataset Summary
TitleGmppa defects result in a treatable syndromic myopathy with α-Dystroglycan hyperglycosylation
DescriptionMutations in GDP-mannose-pyrophosphorylase-A (Gmppa) are associated with a syndromic disorder with deficits such as muscular hypotonia and weakness, achalasia, alacrima, and mental retardation (AAMR-syndrome). Gmppa is catalytically inactive, while its homolog Gmppb converts GTP and mannose-1-phosphate into GDP-mannose, which is a substrate for protein glycosylation. Suggesting that Gmppa is an allosteric inhibitor of Gmppb, Gmppa and Gmppb interact and disruption of Gmppa in mice increases GDP-mannose tissue levels. KO mice develop a myopathic disorder characterized by hyperglycosylation of the sarcolemma-associated protein α-Dystroglycan (α-Dg), while the overall abundance of α-Dg is reduced. This reduction is also observed in skeletal muscle biopsies of AAMR patients and in myoblasts upon knockdown of Gmppa. The knockdown does not impair myoblast differentiation but compromises myotube maintenance. Dietary mannose depletion prevents α-Dg hyperglycosylation and the deterioration of motor functions in mice. Thus our data suggest that the disorder is at least in part preventable.
HostingRepositoryPRIDE
AnnounceDate2024-10-22
AnnouncementXMLSubmission_2024-10-22_05:21:05.357.xml
DigitalObjectIdentifier
ReviewLevelPeer-reviewed dataset
DatasetOriginOriginal dataset
RepositorySupportUnsupported dataset by repository
PrimarySubmitterAlessandro Ori
SpeciesList scientific name: Mus musculus (Mouse); NCBI TaxID: 10090;
ModificationListmonohydroxylated residue; acetylated residue; iodoacetamide derivatized residue
InstrumentOrbitrap Fusion Lumos
Dataset History
RevisionDatetimeStatusChangeLog Entry
02019-06-14 08:08:47ID requested
12021-04-15 07:17:20announced
22024-10-22 05:21:05announced2024-10-22: Updated project metadata.
Publication List
Dataset with its publication pending
Keyword List
submitter keyword: Therapy, Congenital Disorder of Glycosylation, Gmppa, Myopathy,Skeletal muscle, Dystroglycan
Contact List
Alessandro Ori
contact affiliationLeibniz Institute on Aging – Fritz Lipmann Institute (FLI) Beutenbergstrasse 11 07745 Jena, Germany
contact emailalessandro.ori@leibniz-fli.de
lab head
Alessandro Ori
contact affiliationLeibniz Institute on Aging
contact emailaleori@gmail.com
dataset submitter
Full Dataset Link List
Dataset FTP location
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PRIDE project URI
Repository Record List
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