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
Glycosphingolipid levels and glucocerebrosidase activity are altered in normal aging of the mouse brain.
Hallett PJ. et al, (2018), Neurobiol Aging, 67, 189 - 200
AAV9 intracerebroventricular gene therapy improves lifespan, locomotor function and pathology in a mouse model of Niemann-Pick type C1 disease.
Hughes MP. et al, (2018), Hum Mol Genet
Altered Expression of Ganglioside Metabolizing Enzymes Results in GM3 Ganglioside Accumulation in Cerebellar Cells of a Mouse Model of Juvenile Neuronal Ceroid Lipofuscinosis.
Somogyi A. et al, (2018), Int J Mol Sci, 19
Emptying the stores: lysosomal diseases and therapeutic strategies.
Platt FM., (2018), Nat Rev Drug Discov, 17, 133 - 150
GM1 ganglioside-independent intoxication by Cholera toxin.
Cervin J. et al, (2018), PLoS Pathog, 14
N-Butyl-l-deoxynojirimycin (l-NBDNJ): Synthesis of an Allosteric Enhancer of α-Glucosidase Activity for the Treatment of Pompe Disease.
D'Alonzo D. et al, (2017), J Med Chem, 60, 9462 - 9469
Haematopoietic Stem Cell Transplantation Arrests the Progression of Neurodegenerative Disease in Late-Onset Tay-Sachs Disease.
Stepien KM. et al, (2017), JIMD Rep