- Cancer-related molecular mechanisms research
- MicroRNA in disease regulation
- Circular RNAs in diseases
- RNA Research and Splicing
- RNA modifications and cancer
- Genetics and Neurodevelopmental Disorders
- Genomics and Chromatin Dynamics
Josep Carreras Leukaemia Research Institute
2021-2025
Institut d'Investigació Biomédica de Bellvitge
2015-2019
Significance The molecular mechanisms used by noncoding RNAs to regulate gene expression are largely unknown. We have discovered a previously unidentified regulatory phenomenon underlying the transcriptional activation of intermediate filament protein vimentin. This regulation involves participation uncharacterized head-to-head antisense transcript that forms part hybrid DNA:RNA structure known as R loop. loops been focus recent research regarding their unexpected involvement in regulation....
One largely unknown question in cell biology is the discrimination between inconsequential and functional transcriptional events with relevant regulatory functions. Here, we find that oncofetal HMGA2 gene aberrantly reexpressed many tumor types together its antisense transcribed pseudogene RPSAP52. RPSAP52 abundantly present cytoplasm, where it interacts RNA binding protein IGF2BP2/IMP2, facilitating to mRNA targets, promoting their translation by mediating recruitment on polysomes enhancing...
Rett syndrome (RTT) is a severe neurodevelopmental disorder primarily caused by loss-of-function mutations in the MECP2 gene, resulting diverse cellular dysfunctions. Here, we investigated role of long noncoding RNA (lncRNA) NEAT1 context MeCP2 deficiency using human neural cells and RTT patient samples. Through single-cell sequencing molecular analyses, found that markedly downregulated knockout (KO) at various stages differentiation. downregulation correlated with aberrant activation mTOR...
Noncoding RNAs play regulatory roles in physiopathology, but their involvement neurodevelopmental diseases is poorly understood. Rett syndrome a severe, progressive disorder linked to loss-of-function mutations of the