Project description:This SuperSeries is composed of the following subset Series: GSE7177: Comparison of gene expression data between wild-type and DM1-affected Mesodermal Precursors Cells (MPC) GSE7178: Comparison of gene expression data between wild-type and DM1-affected Neural Precursors Cells (NPC) GSE7179: Comparison of gene expression data between wild-type and DM1-affected undifferentiated hES cells. Keywords: SuperSeries Refer to individual Series
Project description:Expression profiles for isogenic (129SvJae x C57BL/6) murine embryonic stem (ES) cells, neural precursors (NPC) obtained through in vitro differentiation of the ES cells, and embryonic fibroblasts (MEF) obtained at day 13.5. Keywords: cell type comparison
Project description:Here, we performed a large-scale coordinated transcriptomic and proteomic analysis to characterize a DM1 mouse model (HSALR) in comparison to wild-type. Our integrative proteogenomics approach comprised gene- and splicing-level assessments for mRNA and protein. It recapitulated many known instances of aberrant mRNA splicing in DM1 and identified new ones. It enabled the design and targeting of splicing-specific peptides and confirmed the translation of known instances of aberrantly spliced disease-related genes (e.g. Atp2a1, Bin1, Ryr1), complemented by novel findings (e.g. Ywhae, Flnc, Svil). Comparative analysis of large-scale mRNA and protein expression data showed remarkable agreement of differential patterns between disease and wild-type on both the gene and especially the splicing level.
Project description:The hypercellularity in the outer layers of the cortex in Lgi1 null mice suggested that Lgi1 possibly plays a role in controlling cell migration dynamics. To investigate this hypothesis, we first generated and immortalized neural precursor-like cells (NPC), isolated from Lgi1 null and wild type mice at E13.5 stage using Large-T antigen. Subsequently, we compared gene expression patterns between the immortalized NPC-like cells with the two different Lgi1 genotypes using Affymetrix GeneChip Mouse Gene 1.0 ST Array. Our studies suggest that Lgi1 has a role in regulating neuronal migration and their synapse formation and that its absence/dysregulation can result in seizure despite a histologically subtle cortical dysplastic phenotype. RNAs were extracted from the null and wild type NPC cells, respectively. The samples were biologically triplicated. RNA samples were hybridized to Mouse Gene 1.0 ST Array.
Project description:Myotonic dystrophy type 1 (DM1) is a progressive life-limiting neuromuscular disorder with no available cure. In the current study, we examined the extent to which 12-weeks of cycle ergometry can recuperate clinical and physiological metrics in DM1 patients. Furthermore, we studied the underlying mechanisms through which exercise elicits benefits in skeletal muscle. DM1 was associated with impaired muscle function, fitness, lung capacity, and mitochondrial function. Exercise training induced several clinical, physical, and metabolic advantages in DM1 patients. We highlight that exercise-induced molecular and cellular alterations in patients do not conform with previously published data in murine models and propose an alternative mechanism. Lastly, we briefly outline the involvement of small nucleolar RNAs as a novel component within the DM1 pathophysiology. Taken together, our data supports the efficacy of aerobic training to mitigate the relentless progression of DM1 in individuals affected.