(Q28482370)

English

Systemic delivery of a glucosylceramide synthase inhibitor reduces CNS substrates and increases lifespan in a mouse model of type 2 Gaucher disease

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Systemic delivery of a glucosylceramide synthase inhibitor reduces CNS substrates and increases lifespan in a mouse model of type 2 Gaucher disease (English)

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1 reference

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author name string

Mario A Cabrera-Salazar

1

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Matthew Deriso

2

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Scott D Bercury

3

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Lingyun Li

4

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John T Lydon

5

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William Weber

6

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Nilesh Pande

7

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Mandy A Cromwell

8

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Diane Copeland

9

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John Leonard

10

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Seng H Cheng

11

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Ronald K Scheule

12

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language of work or name

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publication date

2012

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7

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8

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e43310

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copyright license

Creative Commons Attribution 4.0 International

17 August 2012

1 reference

April 2022 Public Data File from Crossref

copyright status

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Iminosugar-based inhibitors of glucosylceramide synthase increase brain glycosphingolipids and survival in a mouse model of Sandhoff disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422338

19 March 2017

Mice with type 2 and 3 Gaucher disease point mutations generated by a single insertion mutagenesis procedure

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422338

19 March 2017

Improvement in hematological, visceral, and skeletal manifestations of Gaucher disease type 1 with oral eliglustat tartrate (Genz-112638) treatment: 2-year results of a phase 2 study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422338

29 September 2017

Neuronopathic Gaucher disease in the mouse: viable combined selective saposin C deficiency and mutant glucocerebrosidase (V394L) mice with glucosylsphingosine and glucosylceramide accumulation and progressive neurological deficits

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422338

29 September 2017

Outcome of type III Gaucher disease on enzyme replacement therapy: review of 55 cases.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422338

29 September 2017

Murine models of acute neuronopathic Gaucher disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422338

29 September 2017

Krabbe disease: psychosine-mediated activation of phospholipase A2 in oligodendrocyte cell death

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422338

29 September 2017

Sphingolipidomics: high-throughput, structure-specific, and quantitative analysis of sphingolipids by liquid chromatography tandem mass spectrometry

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422338

29 September 2017

Toxicity of glucosylsphingosine (glucopsychosine) to cultured neuronal cells: a model system for assessing neuronal damage in Gaucher disease type 2 and 3.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422338

29 September 2017

Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher Registry

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422338

29 September 2017

Lysophospholipids and their G protein-coupled receptors in inflammation and immunity

1 reference

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29 September 2017

Management of neuronopathic Gaucher disease: a European consensus.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422338

29 September 2017

Immunohistochemical localization of macrophages and microglia in the adult and developing mouse brain

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422338

29 September 2017

The third glial cell type, the microglia: cellular markers of activation in situ

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422338

29 September 2017

Turnover of resident microglia in the normal adult mouse brain

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422338

29 September 2017

Accumulation of glucosylceramide and glucosylsphingosine (psychosine) in cerebrum and cerebellum in infantile and juvenile Gaucher disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422338

2 June 2018

Neuropathology of the Norrbottnian type of Gaucher disease. Morphological and biochemical studies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422338

2 June 2018

Synthesis of galactosyl ceramide and glucosyl ceramide by rat brain: assay procedures and changes with age.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422338

2 June 2018

Late-infantile Gaucher disease in a child with myoclonus and bulbar signs: neuropathological and neurochemical findings

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422338

2 June 2018

Intracerebroventricular delivery of glucocerebrosidase reduces substrates and increases lifespan in a mouse model of neuronopathic Gaucher disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422338

27 November 2018

Intracerebroventricular infusion of acid sphingomyelinase corrects CNS manifestations in a mouse model of Niemann-Pick A disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422338

27 November 2018

Intraventricular enzyme replacement improves disease phenotypes in a mouse model of late infantile neuronal ceroid lipofuscinosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422338

27 November 2018

Neuropathology provides clues to the pathophysiology of Gaucher disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422338

27 November 2018

Phenotypic continuum in neuronopathic Gaucher disease: an intermediate phenotype between type 2 and type 3.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422338

27 November 2018

Glucosylsphingosine accumulation in tissues from patients with Gaucher disease: correlation with phenotype and genotype

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422338

27 November 2018

Demonstration of feasibility of in vivo gene therapy for Gaucher disease using a chemically induced mouse model

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422338

27 November 2018

Clinical and genetic studies of Japanese homozygotes for the Gaucher disease L444P mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422338

27 November 2018

Apoptotic pathways mobilized in microglia and neurones as a consequence of chromogranin A-induced microglial activation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422338

27 November 2018

Progressive activation of adult microglial cells in vitro.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422338

27 November 2018

No justification for very high-dose enzyme therapy for patients with type III Gaucher disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/22912851

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The increased sensitivity of neurons with elevated glucocerebroside to neurotoxic agents can be reversed by imiglucerase

1 reference

https://pubmed.ncbi.nlm.nih.gov/22912851

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Glucosylsphingosine accumulation in mice and patients with type 2 Gaucher disease begins early in gestation

1 reference

https://pubmed.ncbi.nlm.nih.gov/22912851

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1371/JOURNAL.PONE.0043310

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

2012PLoSO...743310C

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OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PMC publication ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PubMed publication ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

ResearchGate publication ID

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