(Q47393679)

15 January 2018

title

Emptying the stores: lysosomal diseases and therapeutic strategies (English)

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15 January 2018

Frances M Platt

1

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publication date

17 November 2017

1 reference

15 January 2018

Nature Reviews Drug Discovery

published in

1 reference

15 January 2018

https://scigraph.springernature.com/pub.10.1038/nrd.2017.214

exact match

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cites work

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A Proteomic Analysis of Lysosomal Integral Membrane Proteins Reveals the Diverse Composition of the Organelle

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31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRD.2017.214

Celastrol increases glucocerebrosidase activity in Gaucher disease by modulating molecular chaperones.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRD.2017.214

Activation of the heat shock response in a primary cellular model of motoneuron neurodegeneration-evidence for neuroprotective and neurotoxic effects

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRD.2017.214

Microglial activation precedes acute neurodegeneration in Sandhoff disease and is suppressed by bone marrow transplantation

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRD.2017.214

Central nervous system inflammation is a hallmark of pathogenesis in mouse models of GM1 and GM2 gangliosidosis

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRD.2017.214

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRD.2017.214

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRD.2017.214

Complement drives glucosylceramide accumulation and tissue inflammation in Gaucher disease.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRD.2017.214

Possible role of autoantibodies in the pathophysiology of GM2 gangliosidoses

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRD.2017.214

Microarray screening of Guillain-Barré syndrome sera for antibodies to glycolipid complexes.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRD.2017.214

The application of glycosphingolipid arrays to autoantibody detection in neuroimmunological disorders.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRD.2017.214

Combinatorial glycoarray.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRD.2017.214

From Lysosomal Storage Diseases to NKT Cell Activation and Back

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRD.2017.214

Globotriaosylceramide inhibits iNKT-cell activation in a CD1d-dependent manner.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRD.2017.214

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRD.2017.214

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRD.2017.214

Epidemiology of multimorbidity and implications for health care, research, and medical education: a cross-sectional study.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRD.2017.214

Predictors of health-related quality of life in people with a complex chronic disease including multimorbidity: a longitudinal cohort study

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRD.2017.214

Gaucher disease: Progress and ongoing challenges

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRD.2017.214

Gaucher disease and comorbidities: B-cell malignancy and parkinsonism

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRD.2017.214

Pressure for drug development in lysosomal storage disorders - a quantitative analysis thirty years beyond the US orphan drug act

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRD.2017.214

Nanoparticle transport across the blood brain barrier.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRD.2017.214

Early Combination Antiretroviral Therapy Limits HIV-1 Persistence in Children

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRD.2017.214

Safety and efficacy of recombinant human alpha-galactosidase A replacement therapy in Fabry's disease

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRD.2017.214

Management goals for type 1 Gaucher disease: An expert consensus document from the European working group on Gaucher disease

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRD.2017.214

History of Orphan Drug Regulation-United States and Beyond

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRD.2017.214

Orphan drug product regulation--United States.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRD.2017.214

The impact of the Orphan Drug Act on drug discovery

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRD.2017.214

Measurement of psychosine in dried blood spots--a possible improvement to newborn screening programs for Krabbe disease

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRD.2017.214

Tandem mass spectrometry for the direct assay of enzymes in dried blood spots: application to newborn screening for Krabbe disease

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRD.2017.214

Fabry disease: enzymatic diagnosis in dried blood spots on filter paper

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRD.2017.214

Newborn screening for Krabbe disease in New York State: the first eight years' experience.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRD.2017.214

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRD.2017.214

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRD.2017.214

Microarray expression analysis and identification of serum biomarkers for Niemann-Pick disease, type C1.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRD.2017.214

Identification of Niemann-Pick C1 disease biomarkers through sphingolipid profiling

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRD.2017.214

The Nova Scotia (type D) form of Niemann-Pick disease is caused by a G3097-->T transversion in NPC1.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRD.2017.214

Linkage disequilibrium mapping of the Nova Scotia variant of Niemann-Pick disease.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRD.2017.214

The distribution of the gene for the juvenile type of Gaucher disease in Sweden

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRD.2017.214

Ashkenazi Jewish population screening for Tay-Sachs disease: the international and Australian experience

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRD.2017.214

Tay-Sachs disease: the search for the enzymatic defect.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRD.2017.214

I-cell disease: multiple lysosomal-enzyme defect

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRD.2017.214

Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical pseudo-hurler polydystrophy) are caused by mutations in the GlcNAc-phosphotransferase alpha / beta -subunits precursor gene

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRD.2017.214

Galactosialidosis: historic aspects and overview of investigated and emerging treatment options

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRD.2017.214

Niemann-Pick disease type C

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRD.2017.214

Danon disease: a focus on processing of the novel LAMP2 mutation and comments on the beneficial use of peripheral white blood cells in the diagnosis of LAMP2 deficiency.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRD.2017.214

31 March 2020

Mucolipidosis type IV.

1 reference

https://api.crossref.org/works/10.1038%2FNRD.2017.214

Mucolipidosis type IV: an update

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRD.2017.214

Identification of HE1 as the second gene of Niemann-Pick C disease

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRD.2017.214

Lysosomal localization of the neuronal ceroid lipofuscinosis CLN5 protein

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRD.2017.214

CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRD.2017.214

Expression and lysosomal targeting of CLN7, a major facilitator superfamily transporter associated with variant late-infantile neuronal ceroid lipofuscinosis

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRD.2017.214

A new locus for variant late infantile neuronal ceroid lipofuscinosis-CLN7.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRD.2017.214

Genetics of the neuronal ceroid lipofuscinoses (Batten disease).

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRD.2017.214

Effective gene therapy in an authentic model of Tay-Sachs-related diseases

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRD.2017.214

Chaperone therapy for GM2 gangliosidosis: effects of pyrimethamine on β-hexosaminidase activity in Sandhoff fibroblasts.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRD.2017.214

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRD.2017.214

Miglustat in adult and juvenile patients with Niemann-Pick disease type C: long-term data from a clinical trial

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRD.2017.214

CNS-accessible Inhibitor of Glucosylceramide Synthase for Substrate Reduction Therapy of Neuronopathic Gaucher Disease.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRD.2017.214

Efficacy of Enzyme and Substrate Reduction Therapy with a Novel Antagonist of Glucosylceramide Synthase for Fabry Disease

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRD.2017.214

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRD.2017.214

Identification and use of biomarkers in Gaucher disease and other lysosomal storage diseases

31 March 2020

1 reference

12 December 2020

Retrospective diagnosis of GM1 gangliosidosis by use of a newborn-screening card

1 reference

12 December 2020

Recent advances in gene therapy for lysosomal storage disorders

1 reference

12 December 2020

A SIMPLE PHENYLALANINE METHOD FOR DETECTING PHENYLKETONURIA IN LARGE POPULATIONS OF NEWBORN INFANTS

1 reference

12 December 2020

Hurler-like phenotype: enzymatic diagnosis in dried blood spots on filter paper

1 reference

12 December 2020

Gene therapy for lysosomal storage disorders

1 reference

12 December 2020

Cholesterol oxidation products are sensitive and specific blood-based biomarkers for Niemann-Pick C1 disease

1 reference

12 December 2020

Stem cell bone marrow transplantation in patients with metabolic storage diseases.

1 reference

12 December 2020

Systemic AAV9 gene therapy improves the lifespan of mice with Niemann-Pick disease, type C1.

1 reference

12 December 2020

Gaucher disease: clinical profile and therapeutic developments

1 reference

12 December 2020

Alternative mechanisms for trafficking of lysosomal enzymes in mannose 6-phosphate receptor-deficient mice are cell type-specific.

1 reference

12 December 2020

Recent gene therapy advancements for neurological diseases.

1 reference

12 December 2020

Diagnosis of alpha-L-iduronidase deficiency in dried blood spots on filter paper: the possibility of newborn diagnosis

1 reference

12 December 2020

Intravenous injection of purified hexosaminidase A into a patient with Tay-Sachs disease

1 reference

12 December 2020

The GM1 and GM2 Gangliosidoses: Natural History and Progress toward Therapy

1 reference

12 December 2020

ACOG committee opinion. Number 298, August 2004. Prenatal and preconceptional carrier screening for genetic diseases in individuals of Eastern European Jewish descent

1 reference

12 December 2020

Arimoclomol, a coinducer of heat shock proteins for the potential treatment of amyotrophic lateral sclerosis

1 reference

12 December 2020

Enzyme replacement therapy for lysosomal storage diseases

1 reference

12 December 2020

Carrier screening for genetic disorders in individuals of Ashkenazi Jewish descent

1 reference

12 December 2020

Combination Therapies for Lysosomal Storage Diseases: A Complex Answer to a Simple Problem

1 reference

12 December 2020

Identifiers

DOI

10.1038/NRD.2017.214

1 reference

15 January 2018

PubMed ID

29147032

1 reference

15 January 2018