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PXD033985

PXD033985 is an original dataset announced via ProteomeXchange.

Dataset Summary
TitleIn vivo and in vitro Genome Editing to explore GNE functions
DescriptionGNE myopathy is an adult onset neuromuscular disorder characterized by slowly progressive distal and proximal muscle weakness, caused by missense recessive mutations in the GNE gene. Although the encoded bifunctional enzyme is well known as the limiting factor in the biosynthesis of sialic acid, no clear mechanisms have been recognized to account for the muscle atrophic pathology, and novel functions for GNE have been hypothesized. Two major issues impair studies on this protein. First, the expression of the GNE protein is minimal in humans and mice muscles and there is no reliable antibody to follow up endogenous expression. Second, no reliable animal model is available for the disease and cellular models from GNE myopathy patients' muscle cells (expressing the mutated protein) are less informative than expected. In order to broaden our knowledge on GNE functions in muscle, we have taken advantage of the CRISPR/Cas9 method for genome editing to first, add a tag to the endogenous Gne gene in mouse, allowing the determination of the spatiotemporal expression of the protein in the organism using well established and reliable antibodies against the specific tag. In addition we have generated a Gne knock out murine muscle cell lineage to identify the events resulting from the total lack of the protein. A thorough multi-omics analysis of both systems including transcriptomics, proteomics, phosphoproteomics and ubiquitination, unraveled novel pathways for Gne, in particular its involvement in cell cycle control and in the DNA damage/repair pathway. The elucidation of fundamental mechanisms of Gne in normal muscle may contribute to the identification of the disrupted functions in GNE myopathy, thus, to the definition of novel biomarkers and possible therapeutic targets for this disease.
HostingRepositoryPRIDE
AnnounceDate2023-11-14
AnnouncementXMLSubmission_2023-11-14_08:07:34.890.xml
DigitalObjectIdentifier
ReviewLevelPeer-reviewed dataset
DatasetOriginOriginal dataset
RepositorySupportUnsupported dataset by repository
PrimarySubmitterTamar Ziv
SpeciesList scientific name: Mus musculus (Mouse); NCBI TaxID: 10090;
ModificationListphosphorylated residue
InstrumentQ Exactive HF
Dataset History
RevisionDatetimeStatusChangeLog Entry
02022-05-19 02:23:18ID requested
12023-03-10 15:24:23announced
22023-11-14 08:07:37announced2023-11-14: Updated project metadata.
Publication List
Ilouz N, Harazi A, Guttman M, Daya A, Ruppo S, Yakovlev L, Mitrani-Rosenbaum S, genome editing to explore GNE functions. Front Genome Ed, 4():930110(2022) [pubmed]
Keyword List
submitter keyword: Phosphoproteomics, GNE,myopathy, CRISPR/Cas9
Contact List
Stella Mitrani-Rosenbaum
contact affiliationGoldyne Savad Institute of Gene Therapy Hadassah -The Hebrew University Medical Center Jerusalem 91120, Israel
contact emailstella@mail.huji.ac.il
lab head
Tamar Ziv
contact affiliationTechnion
contact emailtamarz@technion.ac.il
dataset submitter
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Dataset FTP location
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