A5056974715- Amyotrophic Lateral Sclerosis Research
- Parkinson's Disease Mechanisms and Treatments
- Barrier Structure and Function Studies
- Autophagy in Disease and Therapy
- Prion Diseases and Protein Misfolding
- S100 Proteins and Annexins
- Neurological Disease Mechanisms and Treatments
University of Sheffield
2021-2024
The blood-brain barrier (BBB) serves as a highly intricate and dynamic interface connecting the brain bloodstream, playing vital role in maintaining homeostasis. BBB dysfunction has been associated with multiple neurodegenerative diseases, including amyotrophic lateral sclerosis (ALS); however, of neurodegeneration is understudied. We developed an ALS patient-derived model by using cells derived from 5 patient donors carrying C9ORF72 mutations. Brain microvascular endothelial-like (BMEC-like...
Disruption to protein homeostasis caused by lysosomal dysfunction and associated impairment of autophagy is a prominent pathology in amyotrophic lateral sclerosis frontotemporal dementia (ALS/FTD). The most common genetic cause ALS/FTD G4C2 hexanucleotide repeat expansion C9orf72 (C9ALS/FTD). Repeat-associated non-AUG (RAN) translation transcripts gives rise dipeptide (DPR) proteins that have been shown be toxic may contribute disease etiology. Genetic variants TMEM106B with lobar...