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Publications

A Novel Small NPC1 Promoter Enhances AAV-Mediated Gene Therapy in Mouse Models of Niemann–Pick Type C1 Disease

Hughes MP. et al, (2023), Cells, 12, 1619 - 1619

Grafting of Cyclodextrin to Theranostic Nanoparticles Im-proves Blood-Brain Barrier Model Crossing

PLATT F., (2023), Biomolecules

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

Heat shock protein amplification improves cerebellar myelination in the Npc1nih mouse model.

Gray J. et al, (2022), EBioMedicine, 86

Defective iron homeostasis and hematological abnormalities in Niemann-Pick disease type C1

Chen OCW. et al, (2022), Wellcome Open Research, 7, 267 - 267

Inhibition of the Niemann-Pick C1 protein is a conserved feature of multiple strains of pathogenic mycobacteria.

Weng Y. et al, (2022), Nat Commun, 13

Unravelling the role of acidic organelles in Goat Atrial Fibrillation

Ayagama T. et al, (2022), ACTA PHYSIOLOGICA, 236, 931 - 933

Invariant NKT cells metabolically adapt to the acute myeloid leukaemia environment.

Stavrou V. et al, (2022), Cancer Immunol Immunother

Glycosphingolipid changes in plasma in Parkinson’s disease independent of glucosylceramide levels

PLATT F., (2022), Movement Disorders

Glucosamine Amends CNS Pathology in Mucopolysaccharidosis IIIC Mouse Expressing Misfolded HGSNAT

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

Increasing Diversity in Admissions to Postgraduate Study.

Conway SJ. et al, (2022), J Med Chem, 65, 5867 - 5869

Current methods to analyse lysosome morphology, positioning, motility and function

PLATT F., (2022), Traffic

Correlation of age of onset and clinical severity in Niemann-Pick disease type C1 with lysosomal abnormalities and gene expression

PLATT F., (2022), Scientific Reports

Anti-TNF therapy for inflammatory bowel disease in patients with neurodegenerative Niemann-Pick disease Type C

PLATT F., (2022), Wellcome Open Research

Defective iron homeostasis and hematological abnormalities in Niemann-Pick disease type C1.

Chen OCW. et al, (2022), Wellcome Open Res, 7

Defective iron homeostasis and hematological abnormalities in Niemann-Pick disease type C1.

Chen OCW. et al, (2022), Wellcome open research, 7

NEONATAL LETHALITY AND GENETIC MODIFIERS IN A NEW MOUSE MODEL OF NIEMANN-PICK DISEASE, TYPE C

Rodriguez-Gil JL. et al, (2022), JOURNAL OF INVESTIGATIVE MEDICINE, 70, 300 - 300

Identification of genetic modifiers of murine hepatic β-glucocerebrosidase activity.

Durán A. et al, (2021), Biochem Biophys Rep, 28

VESICLE CHOLESTEROL CONTROLS EXOCYTOTIC FUSION PORE

PLATT F. and Frances P., (2021), Cell Calcium

International consensus on clinical severity scale use in evaluating Niemann-Pick disease Type C in paediatric and adult patients: results from a Delphi Study

PLATT F., (2021), Orphanet Journal of Rare Diseases

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