Matches in SemOpenAlex for { <https://semopenalex.org/work/W3124617246> ?p ?o ?g. }
- W3124617246 abstract "Fragile X syndrome (FXS) is the most prevalent inherited cause of intellectual disabilities and autism spectrum disorders. FXS result from the loss of expression of the FMRP protein, an RNA-binding protein that regulates the expression of key synaptic effectors. FXS is also characterized by a wide array of behavioural, cognitive and metabolic impairments. The severity and penetrance of those comorbidities are extremely variable, meaning that a considerable phenotypic heterogeneity is found among fragile X individuals. Unfortunately, clinicians currently have no tools at their disposal to assay a patient prognosis upon diagnosis. Since the absence of FMRP was repeatedly associated with an aberrant protein synthesis, we decided to study the nascent proteome in order to screen for potential proteomic biomarkers of FXS. We used a BONCAT (Biorthogonal Non-canonical Amino Acids Tagging) method coupled to label-free mass spectrometry to purify and quantify nascent proteins of peripheral blood mononuclear cells (PBMCs) from 7 fragile X male patients and 7 age-matched controls. The proteomic analysis identified several proteins which were either up or downregulated in PBMCs from FXS individuals. Eleven of those proteins were considered as potential biomarkers, of which 5 were further validated by Western blot. The gene ontology enrichment analysis highlighted molecular pathways that may contribute to FXS physiopathology. Our results suggest that the nascent proteome of PBMCs is well suited for the discovery of FXS biomarkers." @default.
- W3124617246 created "2021-02-01" @default.
- W3124617246 creator A5058522431 @default.
- W3124617246 creator A5073013936 @default.
- W3124617246 date "2021-07-26" @default.
- W3124617246 modified "2023-09-23" @default.
- W3124617246 title "A new strategy to uncover fragile X proteomic biomarkers using the nascent proteome of peripheral blood mononuclear cells (PBMCs)" @default.
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- W3124617246 doi "https://doi.org/10.1038/s41598-021-94027-5" @default.
- W3124617246 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/8313568" @default.
- W3124617246 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/34312401" @default.
- W3124617246 hasPublicationYear "2021" @default.
- W3124617246 type Work @default.
- W3124617246 sameAs 3124617246 @default.