A5038351612- RNA and protein synthesis mechanisms
- RNA Research and Splicing
- RNA modifications and cancer
- Hemoglobinopathies and Related Disorders
- Erythrocyte Function and Pathophysiology
- CRISPR and Genetic Engineering
- Hemoglobin structure and function
- Porphyrin and Phthalocyanine Chemistry
- Metal-Catalyzed Oxygenation Mechanisms
- Cardiomyopathy and Myosin Studies
University of Bristol
2020-2024
At Bristol
2022
Cardiff University
2020
UPF3 is a key nonsense-mediated mRNA decay (NMD) factor required for surveillance and eukaryotic gene expression regulation. exists as two paralogs (A B) which are differentially expressed depending on cell type developmental stage believed to regulate NMD activity based cellular requirements. UPF3B mutations cause intellectual disability. The underlying molecular mechanisms remain elusive, many of the lie in poorly characterized middle-domain UPF3B. Here, we show that UPF3A share structural...
Abstract β-thalassemia is a prevalent genetic disorder causing severe anemia due to defective erythropoiesis, with few treatment options. Studying the underlying molecular defects impeded by paucity of suitable patient material. In this study we create human disease cellular model systems for gene editing erythroid line BEL-A, which accurately recapitulate phenotype cells. We also develop high throughput compatible fluorometric-based assay evaluating severity and utilize demonstrate that...
Metalloporphyrins play important roles in areas ranging from biology to nanoscience.
Nonsense-mediated mRNA decay (NMD) is an surveillance pathway involved in translational control and gene expression regulation. Core NMD factors UPF1, UPF2 UPF3B are conserved from yeast to humans essential target mRNAs with a premature stop codon for decay. binding UPF1 activates UPF1's ATPase helicase activities, important its association the exon-junction complex efficient NMD. However, UPF2's RNA remains largely uncharacterized. Here, we analyze nucleic acid binding, identifying first...
ABSTRACT UPF3B is a key nonsense-mediated mRNA decay (NMD) factor required for surveillance of and regulation eukaryotic gene expression. Mutations in cause intellectual disability. The underlying molecular mechanisms remain unexplored as the mutations lie an uncharacterized region UPF3B. Here, we show that shares structural functional homology to Drosophila Behavior/Human Splicing protein family comprising RNA-recognition motif-like domain (RRM-L), NONA/paraspeckle-like (NOPS-L), extended...
Abstract β-thalassemia is a prevalent genetic disorder causing severe anemia due to defective erythropoiesis, with few treatment options. Studying the underlying molecular defects impeded by paucity of suitable patient material. In this study we created human disease cellular model systems for β-thalassemia, which accurately recapitulate phenotype erythroid cells. We also developed high throughput compatible fluorometric-based assay evaluating severity and utilised demonstrate positive...