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Lista de obras de Frances Platt

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

artículo científico publicado en 2016

A comparative study on fluorescent cholesterol analogs as versatile cellular reporters

artículo científico publicado en 2015

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

artículo científico publicado en 2008

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

artículo científico publicado en 2017

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

artículo científico publicado en 2014

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

artículo científico publicado en 2015

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

artículo científico publicado en 2011

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

artículo científico publicado en 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

artículo científico publicado en 2004

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

artículo científico publicado en 2018

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

artículo científico publicado en 2013

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

artículo científico publicado en 2015

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

artículo científico publicado en 2016

An inducible mouse model of late onset Tay-Sachs disease

artículo científico publicado en 2002

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

artículo científico publicado el 1 de diciembre de 1991

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

artículo científico publicado en 2004

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

artículo científico publicado en 2018

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

artículo científico publicado en 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.

artículo científico publicado en 2009

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

artículo científico publicado en 2008

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

artículo científico publicado en 2014

Brain Pathology in Mucopolysaccharidoses (MPS) Patients with Neurological Forms

artículo científico publicado en 2020

Bridging the age spectrum of neurodegenerative storage diseases

artículo científico

CD1d presentation of glycolipids

artículo científico publicado en 2008

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

artículo científico publicado en 2001

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

artículo científico publicado en 2017

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

artículo científico publicado en 2004

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

artículo científico publicado en 2004

Chemoenzymatic Synthesis of a Phosphorylated Glycoprotein

artículo científico publicado en 2016

Chemoenzymatic Synthesis of a Phosphorylated Glycoprotein

artículo científico publicado en 2016

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

artículo científico publicado en 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

artículo científico publicado en 2010

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

artículo científico publicado en 2020

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

artículo científico publicado en 2009

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

artículo científico publicado en 2013

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

artículo científico publicado en 2016

Defective platelet function in Niemann-Pick disease type C1

artículo científico publicado en 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.

artículo científico publicado en 2017

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

artículo científico publicado en 2008

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

artículo científico publicado en 2014

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

artículo científico publicado en 2010

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

artículo científico publicado en 2011

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

artículo científico publicado en 2014

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

artículo científico publicado en 1993

Emptying the stores: lysosomal diseases and therapeutic strategies

artículo científico publicado en 2017

Endolysosomal calcium regulation and disease

artículo científico publicado en 2010

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

artículo científico publicado en 2001

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

artículo científico publicado en 2015

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

artículo científico publicado en 2017

Fetal gene therapy for neurodegenerative disease of infants

article

GM1 ganglioside-independent intoxication by Cholera toxin

artículo científico publicado en 2018

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

artículo científico publicado en 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

artículo científico publicado en 2002

Glycolipid depletion in antimicrobial therapy

artículo científico publicado en 2003

Glycolipid receptor depletion as an approach to specific antimicrobial therapy

artículo científico publicado en 2006

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

artículo científico publicado en 2008

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

artículo científico publicado en 2018

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

artículo científico publicado en 2010

Glycosphingolipid synthesis requires FAPP2 transfer of glucosylceramide

artículo científico publicado en 2007

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

artículo científico publicado en 2008

Glycosphingolipids in endocytic membrane transport

artículo científico publicado en 2004

Glycosylation: Disease Targets and Therapy

artículo científico publicado en 2005

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

artículo científico publicado en 2015

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

artículo científico publicado en 2017

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

artículo científico publicado en 2016

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

artículo científico publicado en 2014

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

artículo científico publicado en 2015

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

artículo científico publicado en 2000

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

artículo científico publicado el 15 de noviembre de 2001

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

artículo científico publicado en 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

artículo científico publicado en 2005

Immune dysfunction in Niemann-Pick disease type C.

artículo científico publicado en 2015

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

artículo científico publicado en 2016

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

artículo científico publicado en 2006

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

artículo científico publicado en 2007

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.

artículo científico publicado en 2004

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

artículo científico publicado en 2002

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

artículo científico publicado en 2004

Inhibition of Glycosphingolipid Biosynthesis: Application to Lysosomal Storage Disorders

artículo científico publicado en 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

artículo científico publicado en 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

artículo científico publicado en 2004

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

artículo científico publicado en 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

artículo científico publicado en 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

artículo científico publicado en 2015

Introduction: glycosphingolipids in cell biology and disease

artículo científico publicado en 2004

Invariant NKT cells in adrenoleukodystrophy patients and mice

artículo científico publicado en 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.

artículo científico publicado en 2012

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

artículo científico publicado en 2020

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

artículo científico publicado en 2010

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

artículo científico publicado en 2006

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

artículo científico publicado en 2011

Lysosomal storage diseases

artículo científico publicado en 2018

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

artículo científico publicado en 2005

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

artículo científico publicado en 2010

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

artículo científico publicado en 2008

Measuring relative lysosomal volume for monitoring lysosomal storage diseases

artículo científico publicado en 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

artículo científico publicado en 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

artículo científico publicado en 2002

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

artículo científico publicado en 1992

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

artículo científico publicado en 2007

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

artículo científico publicado en 2011

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

artículo científico publicado en 1992

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

artículo científico publicado en 2000

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

artículo científico publicado en 2013

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

artículo científico publicado en 2017

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

artículo científico publicado en 2007

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

artículo científico publicado en 2004

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

artículo científico publicado en 2000

N-butyldeoxynojirimycin is a novel inhibitor of glycolipid biosynthesis.

artículo científico publicado en 1994

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

artículo científico publicado en 1996

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

artículo científico publicado en 1996

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

artículo científico publicado en 2017

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

artículo científico publicado en 2019

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

artículo científico publicado en 2004

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

artículo científico publicado en 2009

Neuraminidases 3 and 4 regulate neuronal function by catabolizing brain gangliosides

artículo científico publicado en 2017

New developments in treating glycosphingolipid storage diseases.

artículo científico publicado en 2005

New therapeutic prospects for the glycosphingolipid lysosomal storage diseases.

artículo científico publicado en 1998

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

artículo científico publicado en 2008

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

artículo científico publicado en 2007

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

artículo científico publicado en 2000

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

artículo científico publicado en 2016

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

artículo científico publicado en 2015

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

artículo científico publicado en 2002

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

artículo científico publicado en 2010

RIPK3 as a potential therapeutic target for Gaucher's disease

artículo científico publicado en 2014

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

artículo científico publicado en 2010

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

artículo científico publicado en 2002

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

artículo científico publicado en 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

artículo científico publicado en 2016

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

artículo científico publicado en 2003

Sphingolipid lysosomal storage disorders

artículo científico publicado en 2014

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

artículo científico publicado en 2007

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

artículo científico publicado en 2019

Storage diseases: new insights into sphingolipid functions

artículo científico publicado en 2003

Storage solutions: treating lysosomal disorders of the brain

artículo científico publicado en 2005

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

artículo científico publicado en 2000

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

artículo científico publicado en 2005

Substrate reduction therapy

artículo científico publicado en 2008

Substrate reduction therapy in mouse models of the glycosphingolipidoses

artículo científico publicado en 2003

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

artículo científico publicado en 2004

Synthesis and Study of Multifunctional Cyclodextrin-Deferasirox Hybrids

artículo científico publicado en 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

artículo científico publicado en 2019

Targeting glycosylation as a therapeutic approach

artículo científico publicado en 2002

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

artículo científico publicado en 2005

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

artículo científico publicado en 2012

The metabolism of glucocerebrosides - From 1965 to the present

artículo científico publicado en 2016

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

artículo científico publicado en 2007

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

artículo científico publicado en 2007

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

artículo científico publicado en 1997

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

artículo científico publicado en 2013

Therapeutic applications of imino sugars in lysosomal storage disorders

artículo científico publicado en 2003

Therapy of Niemann-Pick disease, type C.

artículo científico publicado en 2004

Treating lysosomal storage disorders: current practice and future prospects

artículo científico publicado en 2008

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

artículo científico publicado en 2004

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

artículo científico publicado en 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

artículo científico publicado en 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

artículo científico publicado en 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

artículo científico publicado en 2015

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

artículo científico publicado en 2013

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

artículo científico publicado en 2020

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

artículo científico publicado en 2013

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