Sphingolipid lysosomal storage disorders (Q38217766)

31 August 2017

Sphingolipid lysosomal storage disorders (English)

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31 August 2017

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Frances M Platt

1

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language of work or name

English

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publication date

1 June 2014

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31 August 2017

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31 August 2017

510

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31 August 2017

68-75

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31 August 2017

7503

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https://scigraph.springernature.com/pub.10.1038/nature13476

31 August 2017

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cites work

Biosynthesis and degradation of mammalian glycosphingolipids

1 reference

https://api.crossref.org/works/10.1038%2FNATURE13476

Common and uncommon pathogenic cascades in lysosomal storage diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE13476

Ceramide synthases as potential targets for therapeutic intervention in human diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE13476

A vital role for glycosphingolipid synthesis during development and differentiation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE13476

Glycosphingolipid functions: insights from engineered mouse models

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE13476

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE13476

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE13476

Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE13476

Clarifying lysosomal storage diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE13476

Lysosomal storage diseases in adults

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE13476

Niemann-Pick diseases in adults

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE13476

Clinical features and predictors for disease natural progression in adults with Pompe disease: a nationwide prospective observational study

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE13476

Lessons learnt from animal models: pathophysiology of neuropathic lysosomal storage disorders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE13476

Spontaneous appearance of Tay-Sachs disease in an animal model

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE13476

Critical role for glycosphingolipids in Niemann-Pick disease type C.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE13476

Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE13476

Fabry disease: preclinical studies demonstrate the effectiveness of alpha-galactosidase A replacement in enzyme-deficient mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE13476

Enzyme replacement therapy in Fabry disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE13476

Animal models of Alzheimer's disease and drug development

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE13476

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE13476

Lysosome biogenesis and lysosomal membrane proteins: trafficking meets function

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE13476

Niemann-Pick type C disease: molecular mechanisms and potential therapeutic approaches

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE13476

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE13476

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE13476

Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE13476

Gene therapy approaches for lysosomal storage disorders, a good model for the treatment of mendelian diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE13476

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE13476

Safe, efficient, and reproducible gene therapy of the brain in the dog models of Sanfilippo and Hurler syndromes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE13476

Correction of the nonlinear dose response improves the viability of adenoviral vectors for gene therapy of Fabry disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE13476

Therapeutic response in feline sandhoff disease despite immunity to intracranial gene therapy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE13476

The case for intrauterine gene therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE13476

Intravenous administration of AAV2/9 to the fetal and neonatal mouse leads to differential targeting of CNS cell types and extensive transduction of the nervous system.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE13476

RETRACTED ARTICLE: Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMN

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE13476

Enzyme replacement for lysosomal diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE13476

Gaucher disease: pathological mechanisms and modern management

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE13476

Gaucher's disease: clinical features and natural history

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE13476

Enzyme replacement therapy: conception, chaos and culmination

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE13476

Cost-effectiveness of enzyme replacement therapy for Fabry disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE13476

Hsp70 stabilizes lysosomes and reverts Niemann-Pick disease-associated lysosomal pathology.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE13476

HSP70 and lysosomal storage disorders: novel therapeutic opportunities.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE13476

Substrate reduction therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE13476

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE13476

Miglustat: substrate reduction therapy for glycosphingolipid lysosomal storage disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE13476

Miglustat: a review of its use in Niemann-Pick disease type C.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE13476

Long-term efficacy of miglustat in paediatric patients with Niemann-Pick disease type C.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE13476

Dysphagia as a risk factor for mortality in Niemann-Pick disease type C: systematic literature review and evidence from studies with miglustat

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE13476

The structure and function of the Niemann-Pick C1 protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE13476

From serendipity to therapy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE13476

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE13476

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE13476

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE13476

Characterization of the CLEAR network reveals an integrated control of cellular clearance pathways.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE13476

ZKSCAN3 is a master transcriptional repressor of autophagy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE13476

Plasma membrane repair is mediated by Ca(2+)-regulated exocytosis of lysosomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE13476

Membrane proximal lysosomes are the major vesicles responsible for calcium-dependent exocytosis in nonsecretory cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE13476

Transcriptional activation of lysosomal exocytosis promotes cellular clearance

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE13476

Cyclodextrin overcomes the transport defect in nearly every organ of NPC1 mice leading to excretion of sequestered cholesterol as bile acid

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE13476

Weekly cyclodextrin administration normalizes cholesterol metabolism in nearly every organ of the Niemann-Pick type C1 mouse and markedly prolongs life.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE13476

Chronic cyclodextrin treatment of murine Niemann-Pick C disease ameliorates neuronal cholesterol and glycosphingolipid storage and disease progression

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE13476

Miglustat improves purkinje cell survival and alters microglial phenotype in feline Niemann-Pick disease type C.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE13476

Cyclodextrin induces calcium-dependent lysosomal exocytosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE13476

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE13476

GM1-ganglioside accumulation at the mitochondria-associated ER membranes links ER stress to Ca(2+)-dependent mitochondrial apoptosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE13476

Deletion of macrophage-inflammatory protein 1 alpha retards neurodegeneration in Sandhoff disease mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE13476

RIPK3 as a potential therapeutic target for Gaucher's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE13476

Molecular genetics of Krabbe disease (globoid cell leukodystrophy): Diagnostic and clinical implications

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE13476

Autophagy and apoptosis dysfunction in neurodegenerative disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE13476

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE13476

Necroptosis as an alternative form of programmed cell death

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE13476

Fas triggers an alternative, caspase-8-independent cell death pathway using the kinase RIP as effector molecule

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE13476

Catalytic activity of the caspase-8-FLIP(L) complex inhibits RIPK3-dependent necrosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE13476

Transmembrane molecular pump activity of Niemann-Pick C1 protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE13476

Multidrug permeases and subcellular cholesterol transport

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE13476

Niemann-Pick type C mutations cause lipid traffic jam.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE13476

Stuck in traffic: an emerging theme in diseases of the nervous system

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE13476

The role of autophagy in neurodegenerative disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE13476

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE13476

Neurologic Complications of Nonneuronopathic Gaucher's Disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE13476

Occurrence of Parkinson's syndrome in type I Gaucher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE13476

Parkinson's syndrome preceding clinical manifestation of Gaucher's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE13476

Gaucher's disease with Parkinson's disease: clinical and pathological aspects

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE13476

Gaucher disease and the synucleinopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE13476

Gaucher disease with parkinsonian manifestations: does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism?

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE13476

Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE13476

Glucocerebrosidase mutations are an important risk factor for Lewy body disorders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE13476

Lysosomal storage disorders and Parkinson's disease: Gaucher disease and beyond

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE13476

Lysosomal impairment in Parkinson's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE13476

Gaucher disease: multiple lessons from a single gene disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE13476

Neurological features of Fabry disease: clinical, pathophysiological aspects and therapy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE13476

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE13476

The molecular basis of Tay-Sachs disease: mutation identification and diagnosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE13476

The pathology of Sandhoff's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE13476

Niemann-Pick disease type C

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE13476

Niemann-Pick disease type C symptomatology: an expert-based clinical description

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE13476

Adult GM1 gangliosidosis: immunohistochemical and ultrastructural findings in an autopsy case

21 January 2018

1 reference

12 December 2020

Late-onset Tay-Sachs disease: the spectrum of peripheral neuropathy in 30 affected patients

1 reference

12 December 2020

Gangliosides help stabilize the brain

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12 December 2020

Competing for the treasure in exceptions

1 reference

12 December 2020

N-butyldeoxynojirimycin is a novel inhibitor of glycolipid biosynthesis.

1 reference

12 December 2020

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

1 reference

12 December 2020

Recent gene therapy advancements for neurological diseases.

1 reference

12 December 2020

Biochemical and molecular genetic basis of Fabry disease.

1 reference

12 December 2020

The concept of prenatal gene therapy

1 reference

12 December 2020

Krabbe disease: an ultrastructural study of globoid cells and reactive astrocytes at the brain and optic nerves

1 reference

12 December 2020

The role of concomitant methotrexate in biologic therapy for rheumatoid arthritis

1 reference

12 December 2020

Gaucher disease and parkinsonism: a phenotypic and genotypic characterization

1 reference

12 December 2020

Lysosomal enhancement: a CLEAR answer to cellular degradative needs

1 reference

12 December 2020

The return of the nucleus: transcriptional and epigenetic control of autophagy.

1 reference

12 December 2020

Gaucher disease associated with parkinsonism: four further case reports

1 reference

12 December 2020

Molecular genetics of Krabbe disease (globoid cell leukodystrophy): diagnostic and clinical implications

1 reference

12 December 2020

Gene therapy for lysosomal storage disorders

1 reference

12 December 2020

Gaucher disease: insights from a rare Mendelian disorder

1 reference

12 December 2020

A gene network regulating lysosomal biogenesis and function

1 reference

12 December 2020

Gaucher disease: from fundamental research to effective therapeutic interventions

1 reference

12 December 2020

Identifiers

DOI

10.1038/NATURE13476

1 reference

PubMed ID

24899306

Dimensions Publication ID

31 August 2017

0 references

1 reference

PubMed ID

24899306