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List of works by Frances Platt

(1)H NMR-Linked Metabolomics Analysis of Liver from a Mouse Model of NP-C1 Disease

scientific article published on 9 August 2016

A comparative study on fluorescent cholesterol analogs as versatile cellular reporters

scientific article published on 23 December 2015

A new surrogate marker for CNS pathology in Niemann–Pick disease type C?

scientific article published on 10 December 2008

A novel approach to analyze lysosomal dysfunctions through subcellular proteomics and lipidomics: the case of NPC1 deficiency

scientific article published on 30 January 2017

A novel mouse model of a patient mucolipidosis II mutation recapitulates disease pathology

scientific article

A novel, highly sensitive and specific biomarker for Niemann-Pick type C1 disease.

scientific article published on 17 June 2015

A sensitive and specific LC-MS/MS method for rapid diagnosis of Niemann-Pick C1 disease from human plasma

scientific article

AAV9 intracerebroventricular gene therapy improves lifespan, locomotor function and pathology in a mouse model of Niemann-Pick type C1 disease

article

Accumulation of Glucosylceramide in Murine Testis, Caused by Inhibition of β-Glucosidase 2

scientific article published on 11 September 2007

Accumulation of glycosphingolipids in Niemann-Pick C disease disrupts endosomal transport

scientific journal article

Activation of Invariant NKT Cells by Toll-like Receptor 9-Stimulated Dendritic Cells Requires Type I Interferon and Charged Glycosphingolipids

article

Activation of Invariant NKT Cells by the Helminth Parasite Schistosoma mansoni

scientific article published on 01 February 2006

Age-related gait standards for healthy children and young people: the GOS-ICH paediatric gait centiles

scientific article published on 25 March 2019

Alkylated imino sugars, reversible male infertility-inducing agents, do not affect the genetic integrity of male mouse germ cells during short-term treatment despite induction of sperm deformities

scientific article published in December 2004

Altered Expression of Ganglioside Metabolizing Enzymes Results in GM3 Ganglioside Accumulation in Cerebellar Cells of a Mouse Model of Juvenile Neuronal Ceroid Lipofuscinosis.

scientific article published on 22 February 2018

Altered distribution and function of natural killer cells in murine and human Niemann-Pick disease type C1.

scientific article

Amyotrophic lateral sclerosis and denervation alter sphingolipids and up-regulate glucosylceramide synthase

scientific article published on 19 October 2015

An anecdotal report by an Oxford basic neuroscientist: effects of acetyl-DL-leucine on cognitive function and mobility in the elderly

scientific article

An inducible mouse model of late onset Tay-Sachs disease

scientific article published in August 2002

Analysis and isolation of human transferrin receptor using the OKT-9 monoclonal antibody covalently crosslinked to magnetic beads ⬇️

scientific article published on December 1, 1991

Analysis of fluorescently labeled glycosphingolipid-derived oligosaccharides following ceramide glycanase digestion and anthranilic acid labeling

scientific article

Annual severity increment score as a tool for stratifying patients with Niemann-Pick disease type C and for recruitment to clinical trials

Author Correction: Lysosomal storage diseases

scientific article published on 18 October 2018

Autophagy induction and autophagosome clearance in neurons: relationship to autophagic pathology in Alzheimer's disease

scientific article published on July 2008

Beneficial Effects of Acetyl-DL-Leucine (ADLL) in a Mouse Model of Sandhoff Disease

scientific article published on 08 April 2020

Beneficial effects of anti-inflammatory therapy in a mouse model of Niemann-Pick disease type C1.

scientific article published on 24 July 2009

Beneficial effects of substrate reduction therapy in a mouse model of GM1 gangliosidosis

scientific article published in April 2008

Biomarkers for disease progression and AAV therapeutic efficacy in feline Sandhoff disease

scientific article

Brain Pathology in Mucopolysaccharidoses (MPS) Patients with Neurological Forms

scientific article published on 01 February 2020

Bridging the age spectrum of neurodegenerative storage diseases

scientific article published on September 2014

CD1d presentation of glycolipids

scientific article published on 10 June 2008

Carbohydrate receptor depletion as an antimicrobial strategy for prevention of urinary tract infection.

scientific article

Case Report: Ursodeoxycholic acid treatment in Niemann-Pick disease type C; clinical experience in four cases.

scientific article published on 31 August 2017

Cellular effects of deoxynojirimycin analogues: inhibition of N-linked oligosaccharide processing and generation of free glucosylated oligosaccharides

scientific article

Cellular effects of deoxynojirimycin analogues: uptake, retention and inhibition of glycosphingolipid biosynthesis

scientific article

Chemoenzymatic Synthesis of a Phosphorylated Glycoprotein

scientific article published on 8 March 2016

Chemoenzymatic Synthesis of a Phosphorylated Glycoprotein

scientific article published on 11 March 2016

Circadian profiling in two mouse models of lysosomal storage disorders; Niemann Pick type-C and Sandhoff disease

scientific article published on 11 October 2015

Combined Anti-inflammatory and Neuroprotective Treatments Have the Potential to Impact Disease Phenotypes in Cln3 -/- Mice

scientific article published on 11 September 2019

Common and uncommon pathogenic cascades in lysosomal storage diseases

scientific article

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

scientific article published on 15 January 2020

Critical role of iron in the pathogenesis of the murine gangliosidoses.

scientific article published in June 2009

Cyclodextrin alleviates neuronal storage of cholesterol in Niemann-Pick C disease without evidence of detectable blood-brain barrier permeability

scientific article published on 15 February 2013

Defective Cytochrome P450-Catalysed Drug Metabolism in Niemann-Pick Type C Disease

scientific article

Defective platelet function in Niemann-Pick disease type C1

scientific article published on 12 September 2020

Delayed symptom onset and increased life expectancy in Sandhoff disease mice treated with N-butyldeoxynojirimycin.

scientific article published on May 1999

Differential response of the liver to bile acid treatment in a mouse model of Niemann-Pick disease type C.

scientific article published on 31 August 2017

Differential sensitivity of mouse strains to an N-alkylated imino sugar: glycosphingolipid metabolism and acrosome formation

scientific article published on June 2008

Disorders of cholesterol metabolism and their unanticipated convergent mechanisms of disease.

scientific article

Diverse endogenous antigens for mouse NKT cells: self-antigens that are not glycosphingolipids

scientific article

Drug-induced increase in lysobisphosphatidic acid reduces the cholesterol overload in Niemann-Pick type C cells and mice

Drug-induced increase in lysobisphosphatidic acid reduces the cholesterol overload in Niemann-Pick type C cells and mice

scientific article published on 22 May 2019

Early glial activation, synaptic changes and axonal pathology in the thalamocortical system of Niemann-Pick type C1 mice

scientific article published on 16 December 2011

Effects of miglustat treatment in a patient affected by an atypical form of Tangier disease

scientific article

Effects of the imino sugar N-butyldeoxynojirimycin on the N-glycosylation of recombinant gp120.

scientific article

Emptying the stores: lysosomal diseases and therapeutic strategies

scientific article published on 17 November 2017

Endolysosomal calcium regulation and disease

scientific article published on December 2010

Enhanced survival in Sandhoff disease mice receiving a combination of substrate deprivation therapy and bone marrow transplantation.

scientific article

Expression of Ca²⁺-permeable two-pore channels rescues NAADP signalling in TPC-deficient cells

scientific article

Extensive Glycosphingolipid Depletion in the Liver and Lymphoid Organs of Mice Treated withN-Butyldeoxynojirimycin

scientific article published on 01 August 1997

FTY720/fingolimod increases NPC1 and NPC2 expression and reduces cholesterol and sphingolipid accumulation in Niemann-Pick type C mutant fibroblasts

scientific article published on 12 January 2017

Fetal gene therapy for neurodegenerative disease of infants

article

GM1 ganglioside-independent intoxication by Cholera toxin

scientific article published on 12 February 2018

Genetic background modifies phenotypic severity and longevity in a mouse model of Niemann-Pick disease type C1

scientific article published on 29 January 2020

Globosides but not isoglobosides can impact the development of invariant NKT cells and their interaction with dendritic cells

scientific journal article

Glucosylceramide modulates membrane traffic along the endocytic pathway

scientific article published in November 2002

Glycolipid depletion in antimicrobial therapy

scientific article published on January 2003

Glycolipid receptor depletion as an approach to specific antimicrobial therapy

scientific article

Glycomimetic affinity-enrichment proteomics identifies partners for a clinically-utilized iminosugar

scientific article published on 08 July 2013

Glycosphingolipid depletion in PC12 cells using iminosugars protects neuronal membranes from anti-ganglioside antibody mediated injury

scientific article published in October 2008

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

scientific article published on 29 March 2018

Glycosphingolipid storage leads to the enhanced degradation of the B cell receptor in Sandhoff disease mice

scientific article published on 11 May 2010

Glycosphingolipid synthesis requires FAPP2 transfer of glucosylceramide

scientific article

Glycosphingolipids Gb3 and iGb3. In vivo roles in hemolytic-uremic syndrome and iNKT cell function

scientific article

Glycosphingolipids in endocytic membrane transport

scientific article published on August 2004

Glycosylation: Disease Targets and Therapy

scientific article published on 01 January 2005

Guidelines for incorporating scientific knowledge and practice on rare diseases into higher education: neuronal ceroid lipofuscinoses as a model disorder

scientific article published on 24 June 2015

Haematopoietic Stem Cell Transplantation Arrests the Progression of Neurodegenerative Disease in Late-Onset Tay-Sachs Disease.

scientific article published on 7 December 2017

Heat shock protein-based therapy as a potential candidate for treating the sphingolipidoses.

scientific article

Hepatic metabolic response to restricted copper intake in a Niemann-Pick C murine model

scientific article published on August 2014

High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets

scientific article published on 12 March 2015

High-Performance Cation-Exchange Chromatography and Pulsed Amperometric Detection for the Separation, Detection, and Quantitation of N-Alkylated Imino Sugars in Biological Samples

scientific article published on 01 August 2000

High-Performance Liquid Chromatography Analysis of Ganglioside Carbohydrates at the Picomole Level after Ceramide Glycanase Digestion and Fluorescent Labeling with 2-Aminobenzamide ⬇️

scientific article published on November 15, 2001

Identification of novel bile acids as biomarkers for the early diagnosis of Niemann-Pick C disease

scientific article published on 03 May 2016

Imaging of changes in copper trafficking and redistribution in a mouse model of Niemann-Pick C disease using positron emission tomography

scientific article published on 07 March 2019

Imino sugar inhibitors for treating the lysosomal glycosphingolipidoses

scientific article

Immune dysfunction in Niemann-Pick disease type C.

scientific article published on 6 May 2015

Impaired antibacterial autophagy links granulomatous intestinal inflammation in Niemann-Pick disease type C1 and XIAP deficiency with NOD2 variants in Crohn's disease

scientific article published on 7 March 2016

Impaired selection of invariant natural killer T cells in diverse mouse models of glycosphingolipid lysosomal storage diseases

scientific article

Implications for invariant natural killer T cell ligands due to the restricted presence of isoglobotrihexosylceramide in mammals

scholarly article

Improved neuroprotection using miglustat, curcumin and ibuprofen as a triple combination therapy in Niemann–Pick disease type C1 mice

scientific article published on 12 March 2014

Improved outcome of N-butyldeoxygalactonojirimycin-mediated substrate reduction therapy in a mouse model of Sandhoff disease.

scientific article

Increased glycosphingolipid levels in serum and aortae of apolipoprotein E gene knockout mice

scientific article published in February 2002

Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase.

scientific article

Inhibition of Glycosphingolipid Biosynthesis: Application to Lysosomal Storage Disorders

scientific article published on 01 December 2000

Inhibition of alpha-glucosidases I and II increases the cell surface expression of functional class A macrophage scavenger receptor (SR-A) by extending its half-life

scientific article published on 2 July 2004

Inhibition of calcium uptake via the sarco/endoplasmic reticulum Ca2+-ATPase in a mouse model of Sandhoff disease and prevention by treatment with N-butyldeoxynojirimycin

scientific journal article

Inhibition of glucosylceramide synthase does not reverse drug resistance in cancer cells

scientific article

Inhibition of glycogen breakdown by imino sugars in vitro and in vivo.

scientific article published in February 2004

Inhibition of glycosphingolipid biosynthesis does not impair growth or morphogenesis of the postimplantation mouse embryo

scientific article published on 01 February 1998

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

scientific article published on 12 July 2017

Inhibition ofN-Glycan Processing in B16 Melanoma Cells Results in Inactivation of Tyrosinase but Does Not Prevent Its Transport to the Melanosome

scientific article published on 01 June 1997

Intracellular sphingosine releases calcium from lysosomes

scientific article published on 27 November 2015

Introduction: glycosphingolipids in cell biology and disease

scientific article published on 01 August 2004

Invariant NKT cells in adrenoleukodystrophy patients and mice

scientific article published on 01 December 2010

Invariant NKT cells reduce the immunosuppressive activity of influenza A virus-induced myeloid-derived suppressor cells in mice and humans

scientific journal article

Invariant natural killer T cells are not affected by lysosomal storage in patients with Niemann-Pick disease type C.

scientific article

Investigating the Mechanism of Cyclodextrins in the Treatment of Niemann-Pick Disease Type C Using Crosslinked 2-Hydroxypropyl-β-cyclodextrin

scientific article published on 20 October 2020

Lipids on trial: the search for the offending metabolite in Niemann-Pick type C disease

scientific article published on 06 January 2010

Long-term non-hormonal male contraception in mice using N-butyldeoxynojirimycin

scientific article published on 5 January 2006

Lysosomal Ca(2+) homeostasis: role in pathogenesis of lysosomal storage diseases

scientific article (publication date: August 2011)

Lysosomal storage diseases

scientific article published on 01 October 2018

MRS reveals additional hexose N-acetyl resonances in the brain of a mouse model for Sandhoff disease.

scientific article

Macroautophagy is not directly involved in the metabolism of amyloid precursor protein ⬇️

scientific article

Male germ cells require polyenoic sphingolipids with complex glycosylation for completion of meiosis: a link to ceramide synthase-3

scientific article

Measuring relative lysosomal volume for monitoring lysosomal storage diseases

scientific article published on 14 January 2015

Mechanistic convergence and shared therapeutic targets in Niemann-Pick disease

scientific article published on 09 November 2019

Membrane disruption and cytotoxicity of hydrophobic N-alkylated imino sugars is independent of the inhibition of protein and lipid glycosylation

scientific article published on September 2003

Metabolomic Studies of Lipid Storage Disorders, with Special Reference to Niemann-Pick Type C Disease: A Critical Review with Future Perspectives

scientific article published on 05 April 2020

Modulation of THP-1 macrophage and cholesterol-loaded foam cell apolipoprotein E levels by glycosphingolipids

scientific article published on February 2002

Modulation of cell-surface transferrin receptor by the imino sugar N-butyldeoxynojirimycin.

scientific article published on August 1992

Modulation of human natural killer T cell ligands on TLR-mediated antigen-presenting cell activation

scholarly article

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

scientific article published on 24 September 2020

Molecular mechanisms of endolysosomal Ca2+ signalling in health and disease

scientific article

Monoclonal antibodies specific for novel murine cell surface markers define subpopulations of germinal center cells

scientific article published on 01 September 1992

Mutations at CriticalN-Glycosylation Sites Reduce Tyrosinase Activity by Altering Folding and Quality Control

scientific article published on 01 March 2000

Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis.

scientific article published on 07 October 2013

N-Butyl-l-deoxynojirimycin (l-NBDNJ): Synthesis of an Allosteric Enhancer of α-Glucosidase Activity for the Treatment of Pompe Disease

scientific article published on 7 November 2017

N-butyldeoxygalactonojirimycin reduces brain ganglioside and GM2 content in neonatal Sandhoff disease mice

scientific article

N-butyldeoxygalactonojirimycin reduces neonatal brain ganglioside content in a mouse model of GM1 gangliosidosis

scientific article published on 01 May 2004

N-butyldeoxygalactonojirimycin: a more selective inhibitor of glycosphingolipid biosynthesis than N-butyldeoxynojirimycin, in vitro and in vivo

scientific article published on 01 April 2000

N-butyldeoxynojirimycin is a novel inhibitor of glycolipid biosynthesis.

scientific article

N-butyldeoxynojirimycin-mediated inhibition of human immunodeficiency virus entry correlates with changes in antibody recognition of the V1/V2 region of gp120

scientific article published in October 1996

N-butyldeoxynojirimycin-mediated inhibition of human immunodeficiency virus entry correlates with impaired gp120 shedding and gp41 exposure

scientific article published in October 1996

NMR analysis reveals significant differences in the plasma metabolic profiles of Niemann Pick C1 patients, heterozygous carriers, and healthy controls.

scientific article

NPC1 Deficiency in Mice is Associated with Fetal Growth Restriction, Neonatal Lethality and Abnormal Lung Pathology

scientific article published on 19 December 2019

NPC1 regulates ER contacts with endocytic organelles to mediate cholesterol egress

scientific article published on 19 September 2019

NSAIDs increase survival in the Sandhoff disease mouse: synergy with N-butyldeoxynojirimycin

scientific article (publication date: November 2004)

Neural stem cell transplantation benefits a monogenic neurometabolic disorder during the symptomatic phase of disease

scientific article published on September 2009

Neuraminidases 3 and 4 regulate neuronal function by catabolizing brain gangliosides

scientific article published on 25 April 2017

New developments in treating glycosphingolipid storage diseases.

scientific article

New therapeutic prospects for the glycosphingolipid lysosomal storage diseases.

scientific article published in August 1998

Niemann-Pick disease type C1 is a sphingosine storage disease that causes deregulation of lysosomal calcium

scientific article

Normal development and function of invariant natural killer T cells in mice with isoglobotrihexosylceramide (iGb3) deficiency

scholarly article

Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis

scientific article

Pathogenic mycobacteria achieve cellular persistence by inhibiting the Niemann-Pick Type C disease cellular pathway

scientific article

Preferential Coupling of the NAADP Pathway to Exocytosis in T-Cells.

scientific article published on June 2015

Preparation, biochemical characterization and biological properties of radiolabelled N-alkylated deoxynojirimycins

scientific article

Prevention of lysosomal storage in Tay-Sachs mice treated with N-butyldeoxynojirimycin

scientific journal article

Publisher Correction: Lysosomal storage diseases

scientific article published on 17 May 2019

Purified TPC isoforms form NAADP receptors with distinct roles for Ca(2+) signaling and endolysosomal trafficking

scientific article

RIPK3 as a potential therapeutic target for Gaucher's disease

scientific article

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

scientific article published on 08 November 2019

Relative acidic compartment volume as a lysosomal storage disorder-associated biomarker

scientific article published on March 2014

Restricted ketogenic diet enhances the therapeutic action of N-butyldeoxynojirimycin towards brain GM2 accumulation in adult Sandhoff disease mice

scientific article published on 3 April 2010

Reversible infertility in male mice after oral administration of alkylated imino sugars: a nonhormonal approach to male contraception

scientific article published on 11 December 2002

Sandhoff Disease: Improvement of Gait by Acetyl-DL-Leucine: A Case Report

scientific article published on 06 September 2020

Severe endothelial dysfunction in the aorta of a mouse model of Fabry disease; partial prevention by N-butyldeoxynojirimycin treatment

scientific article published on 25 December 2006

Silencing the porcine iGb3s gene does not affect Galα3Gal levels or measures of anticipated pig-to-human and pig-to-primate acute rejection

scientific article

Small-molecule therapeutics for the treatment of glycolipid lysosomal storage disorders

scientific article

Sphingolipid lysosomal storage disorders

scientific article

Stem cells act through multiple mechanisms to benefit mice with neurodegenerative metabolic disease.

scientific article

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

scientific article published on 05 November 2019

Storage diseases: new insights into sphingolipid functions

scientific article

Storage solutions: treating lysosomal disorders of the brain

scientific article

Substrate deprivation: a new therapeutic approach for the glycosphingolipid lysosomal storage diseases.

scientific article published in February 2000

Substrate reduction reduces gangliosides in postnatal cerebrum-brainstem and cerebellum in GM1 gangliosidosis mice.

scientific article

Substrate reduction therapy

scientific article published on April 2008

Substrate reduction therapy in mouse models of the glycosphingolipidoses

scientific article

Sustained therapeutic effects of oral miglustat (Zavesca, N-butyldeoxynojirimycin, OGT 918) in type I Gaucher disease.

scientific article published on January 2004

Synthesis and Study of Multifunctional Cyclodextrin-Deferasirox Hybrids

scientific article published on 24 June 2019

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

scientific article published on 10 January 2020

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

scientific article published on 01 March 2019

Targeting glycosylation as a therapeutic approach

scientific article

The association of Shiga-like toxin with detergent-resistant membranes is modulated by glucosylceramide and is an essential requirement in the endoplasmic reticulum for a cytotoxic effect

scientific article

The cell biology of disease: lysosomal storage disorders: the cellular impact of lysosomal dysfunction

scientific article

The metabolism of glucocerebrosides - From 1965 to the present

scientific article published on 2 December 2016

The postacrosomal assembly of sperm head protein, PAWP, is independent of acrosome formation and dependent on microtubular manchette transport.

scientific article

The sensitivity of murine spermiogenesis to miglustat is a quantitative trait: a pharmacogenetic study

scientific article

The solution NMR structure of glucosylated N-glycans involved in the early stages of glycoprotein biosynthesis and folding.

scientific article published on July 1997

The yeast p5 type ATPase, spf1, regulates manganese transport into the endoplasmic reticulum

scientific article

Therapeutic applications of imino sugars in lysosomal storage disorders

scientific article

Therapy of Niemann-Pick disease, type C.

scientific article published in October 2004

Treating lysosomal storage disorders: current practice and future prospects

scientific article published on 05 September 2008

Treatment with miglustat reverses the lipid-trafficking defect in Niemann-Pick disease type C.

scientific article

Tyrosinase Folding and Copper Loading in Vivo: A Crucial Role for Calnexin and α-Glucosidase II

scientific article published on 01 August 1999

Ultrastructural changes in the Golgi apparatus and secretory granules of HL-60 cells treated with the imino sugar N-butyldeoxynojirimycin

scientific article published on 01 May 1997

Unbiased yeast screens identify cellular pathways affected in Niemann-Pick disease type C

scientific article published on 02 June 2020

Unexpected differences in the pharmacokinetics of N-acetyl-DL-leucine enantiomers after oral dosing and their clinical relevance

scientific article published on 27 February 2020

Unexpected differences in the pharmacokinetics of N-acetyl-DL-leucine enantiomers after oral dosing and their clinical relevance

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

scientific article published on 06 August 2020

Urinary excretion and metabolism of miglustat and valproate in patients with Niemann-Pick type C1 disease: One- and two-dimensional solution-state (1)H NMR studies

scientific article published on 13 August 2015

Vesicular and non-vesicular transport feed distinct glycosylation pathways in the Golgi

scientific article published on 4 August 2013

c-Abl Inhibition Activates TFEB and Promotes Cellular Clearance in a Lysosomal Disorder

scientific article published on 15 October 2020

β-Glucosidase 2 (GBA2) activity and imino sugar pharmacology

scientific article published on 23 July 2013

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