Compartmentalization proteomics revealed endolysosomal protein network changes in a goat model of atrial fibrillation.
Ayagama T. et al, (2024), iScience, 27
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
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