A5084902642- Mosquito-borne diseases and control
- Vibrio bacteria research studies
- Lysosomal Storage Disorders Research
- RNA Research and Splicing
- HIV Research and Treatment
- Cellular transport and secretion
- Retinal Development and Disorders
- CRISPR and Genetic Engineering
- RNA regulation and disease
University of Leeds
2019-2024
Institute of Structural and Molecular Biology
2019
Abstract The carboxy-terminus of the spliceosomal protein PRPF8 , which regulates RNA helicase Brr2, is a hotspot for mutations causing retinitis pigmentosa-type 13, with unclear role in human splicing and tissue-specificity mechanism. We used patient induced pluripotent stem cells-derived cells, carrying heterozygous c.6926 A > C (p.H2309P) mutation to demonstrate retinal-specific endophenotypes comprising photoreceptor loss, apical-basal polarity ciliary defects. Comprehensive...
Chikungunya virus (CHIKV) is a re-emerging, pathogenic alphavirus that transmitted to humans by Aedes spp. mosquitoes—causing fever and debilitating joint pain, with frequent long-term health implications high morbidity. The CHIKV lifecycle poorly understood specific antiviral therapeutics or vaccines are lacking. In this study, we investigated the role of host-cell chloride (Cl-) channels on replication.We demonstrate pharmacological Cl- channel inhibitors significantly inhibit replication...