Search results for " transcriptomics"
showing 5 items of 25 documents
Architecture of cell differentiation, stress-mediated protein expression and transport in iPSC-derived Motor Neurons bearing a pG376D TDP-43 mutation
2020
BACKGROUND AND RATIONALE. ALS is a fatal neurodegenerative disease caused by loss of motoneurons (MNs). Growingevidence suggests that the disease has a strong genetic basis. Up to now, more than 50 ALS-related genes have beenfound. Among these, TARDBP plays a critical role in ALS. Pathogenic mutations in TARDBP gene are found in 1–3% offamilial ALS cases. A few years ago, a novel G376D TARDBP mutation associated to ALS was reported (Conforti et al, 2011). Recently, a verylarge genealogic tree from this G376D family was made (2HE Association, personal communication) leading to a largecollection of DNA, plasma and fibroblasts (FBs) from several family members, both affected and not clinically…
Catalyzing transcriptomics research in cardiovascular disease: The CardioRNA COST action CA17129
2019
WOS: 000474931400001
The multiple facets of Cajal-Retzius neurons.
2021
ABSTRACTCajal-Retzius neurons (CRs) are among the first-born neurons in the developing cortex of reptiles, birds and mammals, including humans. The peculiarity of CRs lies in the fact they are initially embedded into the immature neuronal network before being almost completely eliminated by cell death at the end of cortical development. CRs are best known for controlling the migration of glutamatergic neurons and the formation of cortical layers through the secretion of the glycoprotein reelin. However, they have been shown to play numerous additional key roles at many steps of cortical development, spanning from patterning and sizing functional areas to synaptogenesis. The use of genetic l…
Preclinical characterization of antagomiR-218 as a potential treatment for myotonic dystrophy
2021
Myotonic dystrophy type 1 (DM1) is a rare neuromuscular disease caused by expansion of unstable CTG repeats in a non-coding region of the DMPK gene. CUG expansions in mutant DMPK transcripts sequester MBNL1 proteins in ribonuclear foci. Depletion of this protein is a primary contributor to disease symptoms such as muscle weakness and atrophy and myotonia, yet upregulation of endogenous MBNL1 levels may compensate for this sequestration. Having previously demonstrated that antisense oligonucleotides against miR-218 boost MBNL1 expression and rescue phenotypes in disease models, here we provide preclinical characterization of an antagomiR-218 molecule using the HSALR mouse model and patient-d…
Integrative Gene Expression and Metabolic Analysis Tool IgemRNA
2022
ABSTRACTGenome scale metabolic modelling is widely used technique to research metabolism impacts on organism’s properties. Additional omics data integration enables a more precise genotype-phenotype analysis for biotechnology, medicine and life sciences. Transcriptome data amounts rapidly increase each year. Many transcriptome analysis tools with integrated genome scale metabolic modelling are proposed. But these tools have own restrictions, compatibility issues and the necessity of previous experience and advanced user skills. We have analysed and classified published tools, summarized possible transcriptome pre-processing, and analysis methods and implemented them in the new transcriptome…