Glucosamine Amends CNS Pathology in Mucopolysaccharidosis IIIC Mouse Expressing Misfolded HGSNAT
Journal article
PLATT F., (2022), Journal of Clinical Investigation
Glycosphingolipid metabolism and its role in ageing and Parkinson's disease.
Journal article
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
Journal article
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.
Journal article
PLATT F. and PRIESTMAN D., (2020), Acta Neuropathologica Communications
Brain Pathology in Mucopolysaccharidoses (MPS) Patients with Neurological Forms.
Journal article
Viana GM. et al, (2020), J Clin Med, 9
Brain pathology in MPS patients with neurological forms
Journal article
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.
Journal article
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.
Journal article
PRIESTMAN D. et al, (2020), Human Molecular Genetics
Molecular basis for a new bovine model of Niemann-Pick type C disease.
Journal article
Woolley SA. et al, (2020), PLoS One, 15
Sterile activation of invariant natural killer T cells by ER-stressed antigen-presenting cells.
Journal article
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
Journal article
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
Journal article
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.
Journal article
Paget C. et al, (2019), PLoS Biol, 17
Glycosphingolipid levels and glucocerebrosidase activity are altered in normal aging of the mouse brain.
Journal article
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.
Journal article
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.
Journal article
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.
Journal article
Stepien KM. et al, (2017), JIMD Rep
Neuraminidases 3 and 4 regulate neuronal function by catabolizing brain gangliosides.
Journal article
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.
Journal article
Henriques A. et al, (2017), Sci Rep, 7
Combined deficiencies of endosomal ganglioside neuraminidases 3 and 4 in mice cause lysosomal GM3 gangliosidosis
Conference paper
Pshezhetsky A. et al, (2017), Molecular Genetics and Metabolism