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Publications

A Mouse Systems Genetics Approach Reveals Common and Uncommon Genetic Modifiers of Hepatic Lysosomal Enzyme Activities and Glycosphingolipids.

Durán A. et al, (2023), Int J Mol Sci, 24

Glucosamine Amends CNS Pathology in Mucopolysaccharidosis IIIC Mouse Expressing Misfolded HGSNAT

PLATT F., (2022), Journal of Clinical Investigation

Glycosphingolipid metabolism and its role in ageing and Parkinson's disease.

Wallom K-L. et al, (2021), Glycoconj J

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

Upregulating β-hexosaminidase activity in rodents prevents α-synuclein lipid associations and protects dopaminergic neurons from α-synuclein-mediated neurotoxicity.

PLATT F. and PRIESTMAN D., (2020), Acta Neuropathologica Communications

Brain Pathology in Mucopolysaccharidoses (MPS) Patients with Neurological Forms.

Viana GM. et al, (2020), J Clin Med, 9

Brain pathology in MPS patients with neurological forms

PRIESTMAN D. and PLATT F., (2020), Journal of Clinical Medicine

Correction to: Reduced sphingolipid hydrolase activities, substrate accumulation and ganglioside decline in Parkinson's disease.

Huebecker M. et al, (2020), Mol Neurodegener, 15

Systemic AAV9 gene therapy using the synapsin I promoter rescues a mouse model of neuronopathic Gaucher disease but with limited cross-correction potential to astrocytes.

PRIESTMAN D. et al, (2020), Human Molecular Genetics

Molecular basis for a new bovine model of Niemann-Pick type C disease.

Woolley SA. et al, (2020), PLoS One, 15

Sterile activation of invariant natural killer T cells by ER-stressed antigen-presenting cells.

Bedard M. et al, (2019), Proc Natl Acad Sci U S A

Reduced sphingolipid hydrolase activities, substrate accumulation and ganglioside decline in Parkinson’s disease

PLATT F. et al, (2019), Molecular Neurodegeneration

TLR9-mediated dendritic cell activation uncovers mammalian ganglioside species with specific ceramide backbones that activate invariant Natural Killer T cells

PRIESTMAN D., (2019), PLoS Biology

TLR9-mediated dendritic cell activation uncovers mammalian ganglioside species with specific ceramide backbones that activate invariant natural killer T cells.

Paget C. et al, (2019), PLoS Biol, 17

Glycosphingolipid levels and glucocerebrosidase activity are altered in normal aging of the mouse brain.

Hallett PJ. et al, (2018), Neurobiol Aging, 67, 189 - 200

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

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

Neuraminidases 3 and 4 regulate neuronal function by catabolizing brain gangliosides.

Pan X. et al, (2017), FASEB J, 31, 3467 - 3483

Inhibition of β-Glucocerebrosidase Activity Preserves Motor Unit Integrity in a Mouse Model of Amyotrophic Lateral Sclerosis.

Henriques A. et al, (2017), Sci Rep, 7

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