A5004893483- RNA Research and Splicing
- Amyotrophic Lateral Sclerosis Research
- Neurogenetic and Muscular Disorders Research
- Cell death mechanisms and regulation
- Hippo pathway signaling and YAP/TAZ
- Neuroblastoma Research and Treatments
- RNA modifications and cancer
- RNA and protein synthesis mechanisms
- Molecular Biology Techniques and Applications
Jožef Stefan Institute
2019-2023
Paracelsus Medical University
2022-2023
University of Freiburg
2022
University of Ljubljana
2019-2022
The GGGGCC (G4C2) repeat expansion mutation in C9ORF72 gene is the most common genetic cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). Transcription formation nuclear RNA foci, which sequester specific RNA-binding proteins one possible pathological mechanisms. Here, we show that (G4C2)n predominantly associates with essential paraspeckle SFPQ, NONO, RBM14, FUS hnRNPH co-localizes known paraspeckle-associated hLinc-p21. As paraspeckles motor neurons has been...
Neuroblastoma (NB) is a highly aggressive extracranial solid tumor in children. Due to its heterogeneity, NB remains therapeutic challenge. Several oncogenic factors, including the Hippo effectors YAP/TAZ, are associated with tumorigenesis. Verteporfin (VPF) an FDA-approved drug shown directly inhibit YAP/TAZ activity. Our study aimed investigate VPF's potential as agent NB. We show that VPF selectively and efficiently impairs viability of YAP/TAZ-expressing GI-ME-N SK-N-AS cells, but not...
Abstract The expanded hexanucleotide GGGGCC repeat mutation in the C9orf72 gene is main genetic cause of amyotrophic lateral sclerosis and frontotemporal dementia. Under one disease mechanism, sense antisense transcripts are predicted to bind various RNA-binding proteins, compromise their function cytotoxicity. Here we identify phenylalanine-tRNA synthetase (FARS) subunit alpha (FARSA) as interactor CCCCGG RNA cytosol. aminoacylation tRNA Phe by FARS inhibited RNA, leading decreased levels...
The expanded GGGGCC repeat mutation in the C9orf72 gene is most common genetic cause of neurodegenerative diseases amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). expansion transcribed to sense antisense RNA, which form RNA foci bind cellular proteins. This mechanism action considered cytotoxic. Translation transcripts also leads accumulation toxic dipeptide proteins (DPRs). RNA-binding protein splicing factor proline glutamine rich (SFPQ), being increasingly...
Abstract Neuroblastoma (NB) is a highly aggressive extracranial solid tumor in children. Due to its heterogeneity, NB remains therapeutic challenge. Several oncogenic factors, including the Hippo effectors YAP/TAZ, are associated with tumorigenesis. Verteporfin (VPF) an FDA-approved drug shown directly inhibit YAP/TAZ activity. Our study aimed investigate VPF’s potential as agent NB. We show that VPF selectively and efficiently impairs viability of YAP/ TAZ-expressing GI-ME-N SK-N-AS cells,...
Abstract The expanded hexanucleotide GGGGCC repeat mutation in the C9orf72 gene is main genetic cause of amyotrophic lateral sclerosis and frontotemporal dementia. Under one disease mechanism, sense antisense transcripts are predicted to bind various RNA-binding proteins, compromise their function cytotoxicity. Focusing on cytoplasmic interaction CCCCGG RNA this study identifies phenylalanine-tRNA synthetase (FARS) subunit alpha (FARSA) as interactor. aminoacylation tRNAPhe by FARS inhibited...