A5031374232- Parkinson's Disease Mechanisms and Treatments
- Autophagy in Disease and Therapy
- Histone Deacetylase Inhibitors Research
- Pluripotent Stem Cells Research
- Amyotrophic Lateral Sclerosis Research
- Neurogenetic and Muscular Disorders Research
- Hearing, Cochlea, Tinnitus, Genetics
- Autism Spectrum Disorder Research
- Cancer-related molecular mechanisms research
- Congenital heart defects research
University College London
2024
University of Sheffield
2019-2020
University of Trento
2018
It is important to understand how the disease process affects metabolic pathways in amyotrophic lateral sclerosis and whether these can be manipulated ameliorate progression. To analyse basis of defect we used a phenotypic profiling approach. Using fibroblasts reprogrammed induced astrocytes from C9orf72 sporadic cases measured production rate reduced nicotinamide adenine dinucleotides (NADH) 91 potential energy substrates simultaneously. Our screening approach identified that have distinct...
Mutations in PRKN are the most common cause of early onset Parkinson's disease. Parkin is an E3 ubiquitin ligase, functioning mitophagy. Mitochondrial abnormalities present mutant models. Patient derived neurons a promising model which to study pathogenic mechanisms and therapeutic targets. Here we generate induced neuronal progenitor cells from patient fibroblasts with high dopaminergic neuron yield. We reveal changing mitochondrial phenotypes as undergo metabolic switch during...
Vestibular dysfunction resulting in dizziness, vertigo and falls is prevalent elderly people. Loss of sensory "hair" cells from the balance epithelia inner ear may be a major contributor to this complex degenerative condition. Little data exists on age-related loss vestibular hair common strains laboratory mice, despite their importance as models progressive hearing loss. Here we have examined ageing C57BL/6 mice (a model early-onset cochlear cell loss) CBA/Ca (which retain most through...
Abstract Background Mutations in parkin are the most common cause of early onset Parkinson’s disease. Parkin is an E3 ubiquitin ligase, functioning mitophagy. Mitochondrial abnormalities present mutant models. Patient derived neurons a promising model which to study pathogenic mechanisms and therapeutic targets. Here we generate induced neuronal progenitor cells from patient fibroblasts with high dopaminergic neuron yield. We reveal changing mitochondrial phenotypes as undergo metabolic...