Head of Department
- Professor of Biochemistry and Pharmacology
Professor Platt obtained a BSc in Zoology at Imperial College University of London and a PhD in animal physiology from the University of Bath. She was a post-doctoral fellow at Washington University Medical School in St Louis, USA. She returned to the UK in 1989 (to the Biochemistry Department, University of Oxford) where she focused on how the abnormal accumulation of glycosphingolipids results in pathology in lysosomal storage diseases.
She was a Lister Institute Senior Research Fellow from 1996-2002. A major focus of her work has been on the development of substrate reduction therapy (SRT) to treat several of these disorders. Proof of principle of SRT was demonstrated in mouse models of these primarily neurodegenerative diseases. Dr Platt’s research, in collaboration with Dr Terry Butters, has led to the development of the approved drug miglustat/Zavesca for glycosphingolipid storage disease therapy.
Her current interests focus on the cell biology and pathobiology of glycosphingolipids and on the development of novel therapies for treating diseases resulting from defects in gycolipid metabolism and lysosomal dysfunction.
She moved to the Department of Pharmacology in April 2006 and was elected a fellow of the Academy of Medical Sciences in 2011.
Key Research Areas:
- Lysosomal storage disorders, pathogenesis and therapy
- The effects of lysosomal storage on the immune system
- Development of biomarkers for monitoring storage disease patients
- Lysosomal dysfunction in more common diseases
An iPSC model of Hereditary Sensory Neuropathy type-1 reveals Serine responsive deficits in neuronal ganglioside composition and axoglial interactions
CLARK A., (2021), Cell Reports Medicine
Lipid-mediated impairment of axonal lysosome transport contributing to autophagic stress.
Roney JC. et al, (2021), Autophagy
Lipid-mediated motor-adaptor sequestration impairs axonal lysosome delivery leading to autophagic stress and dystrophy in Niemann-Pick type C.
Roney JC. et al, (2021), Dev Cell
A master protocol to investigate a novel therapy acetyl-L-leucine for three ultra-rare neurodegenerative diseases: Niemann-Pick type C, the GM2 gangliosidoses, and ataxia telangiectasia.
Fields T. et al, (2021), Trials, 22
Lipid-mediated control of the TMEM16A Ca2+- gated Cl- channel by the lysosomal NPC1 protein
Scofano LF. et al, (2021), BRITISH JOURNAL OF PHARMACOLOGY, 178, 414 - 414
Sandhoff Disease: Improvement of Gait by Acetyl-DL-Leucine: A Case Report.
Bremova-Ertl T. et al, (2020), Neuropediatrics, 51, 450 - 452
c-Abl Inhibition Activates TFEB and Promotes Cellular Clearance in a Lysosomal Disorder.
Contreras PS. et al, (2020), iScience, 23