(Q34631690)

3 August 2017

title

Substrate compositional variation with tissue/region and Gba1 mutations in mouse models--implications for Gaucher disease (English)

1 reference

3 August 2017

Ying Sun

1

1 reference

3 August 2017

Wujuan Zhang

2

1 reference

3 August 2017

You-Hai Xu

3

1 reference

3 August 2017

Brian Quinn

4

1 reference

3 August 2017

Nupur Dasgupta

5

1 reference

3 August 2017

Benjamin Liou

6

1 reference

3 August 2017

Kenneth D R Setchell

7

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3 August 2017

Gregory A Grabowski

8

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3 August 2017

language of work or name

English

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publication date

8 March 2013

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3 August 2017

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3 August 2017

volume

8

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3 August 2017

issue

3

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3 August 2017

page(s)

e57560

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Creative Commons Attribution 4.0 International

3 August 2017

copyright license

start time

8 March 2013

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Ex vivo and in vivo effects of isofagomine on acid β-glucosidase variants and substrate levels in Gaucher disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3592923

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3592923

Specific saposin C deficiency: CNS impairment and acid beta-glucosidase effects in the mouse

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3592923

Absence of oligodendroglial glucosylceramide synthesis does not result in CNS myelin abnormalities or alter the dysmyelinating phenotype of CGT-deficient mice

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3592923

Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA).

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3592923

Cell-specific deletion of glucosylceramide synthase in brain leads to severe neural defects after birth.

7 July 2018

1 reference

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3592923

Viable mouse models of acid beta-glucosidase deficiency: the defect in Gaucher disease

7 July 2018

1 reference

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A vital role for glycosphingolipid synthesis during development and differentiation

7 July 2018

1 reference

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Sphingolipid metabolism. Sphingoid analogs, sphingolipid activator proteins, and the pathology of the cell.

7 July 2018

1 reference

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Increased cerebroside concentration in plasma and erythrocytes in Gaucher disease: significant differences between type I and type III.

7 July 2018

1 reference

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The occurrence of psychosine and other glycolipids in spleen and liver from the three major types of Gaucher's disease

7 July 2018

1 reference

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

7 July 2018

1 reference

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

7 July 2018

1 reference

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Globoid cell leukodystrophy: Additional deficiency of psychosine galactosidase

7 July 2018

1 reference

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Glycosphingolipid studies of visceral tissues and brain from type 1 Gaucher disease variants

7 July 2018

1 reference

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Gaucher disease: molecular heterogeneity and phenotype-genotype correlations

7 July 2018

1 reference

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Characterization of human glucocerebrosidase from different mutant alleles

7 July 2018

1 reference

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Analyses of variant acid beta-glucosidases: effects of Gaucher disease mutations

7 July 2018

1 reference

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Phenotypic heterogeneity in patients with Gaucher disease and the N370S/V394L genotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0057560

Saposin C is required for normal resistance of acid beta-glucosidase to proteolytic degradation

21 January 2018

1 reference

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Gaucher disease mouse models: point mutations at the acid beta-glucosidase locus combined with low-level prosaposin expression lead to disease variants.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0057560

Animal model of Gaucher's disease from targeted disruption of the mouse glucocerebrosidase gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0057560

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0057560

Glycolipid analysis of different tissues and cerebrospinal fluid in type II Gaucher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0057560

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

21 January 2018

1 reference

12 December 2020

Quantity and fatty acyl composition of the glycosphingolipids of Gaucher spleen

1 reference

12 December 2020

Deficiency of glucosylsphingosine: -Glucosidase in Gaucher disease

1 reference

12 December 2020

The structure of cerebrosides in Gaucher's disease

1 reference

12 December 2020

LIPIDS OF THE SPLEEN IN GAUCHER'S DISEASE

1 reference

12 December 2020

Biochemical properties of β-glucosidase in leukocytes from patients and obligated heterozygotes for Gaucher disease carriers

1 reference

12 December 2020

Fate and sorting of acid beta-glucosidase in transgenic mammalian cells

1 reference

12 December 2020

10.1371/JOURNAL.PONE.0057560

Identifiers

DOI

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3 August 2017

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3 August 2017

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