NYU Dataset

Protemic Data Indicates Altered Steady State and De Novo Protein Expression in Fragile X Syndrome

Part of: Klann Lab |
UID: 10472
* Corresponding Author
Description

Fragile X syndrome (FXS) is caused by changes in FMR1 gene, which leads to transcriptional silencing and loss of its protein product fragile X mental retardation protein (FMRP). For this study, proteomic experiments were performed to investigate the de novo translational profile in FXS model mice is altered at steady state and in response to metabotropic glutamate receptor (mGluR) stimulation. Altered proteins, hexokinase 1 (HK1) and RAS, are also expressed in the blood of FXS model mice and plasma levels of HK1 and RAS differ between FXS patients and healthy volunteers.

The dataset contains proteomic data as well as supplementary data tied to the publication. The supplementary data contains data about wild-type and knockout steady state results, top 20 DAVID GO clusters, complete mass spectrometry results, and top 20 DAVID GO table of top functional clusters for knockout mice. The supplementary data also contains data about steady state de novo proteome of wild-type and Fmr1 knockout mice, mGluR-stimulated de novo proteome of wild-type and Fmr1 knockout mice, steady state and mGluR-stimulated de novo proteomes in Fmr1 knockout mice, whole blood levels of RAS and HK1 in Fmr1 knockout mice, and BONLAC candidate proteins in human FXS patient plasma.

Subject of Study
Subject Domain
Population Age
Adolescent (13 years - 18 years)
Adult (19 years - 64 years)
Keywords

Access

Restrictions
Free to All
Instructions
All raw proteomic data can be found at MassIVE and DAVID original data can be found at Google Drive. All data needed to evaluate the conclusions in the paper are present in the Supplementary Materials.
Access via MassIVE

Raw proteomic data
Accession #: MSV000081061

Access via Google Drive

DAVID original data

Associated Publications
Data Type
Equipment Used
ProteinSimple FluorChem E System
Thermo Scientific Q Exactive
Software Used
DAVID
ImageJ
MaxQuant
Perseus
Grant Support
FRAXA Research Foundation/FRAXA Research Foundation
1507946/NSF
Charles H. Revson Senior Biomedical Fellowship/Charles H. Revson Senior Biomedical Fellowship
Department of Biotechnology, Government of India/Department of Biotechnology, Government of India