(Q39357071)

English

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

scientific article published on 4 January 2010

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scholarly article

1 reference

Europe PubMed Central

11 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 (English)

1 reference

Europe PubMed Central

11 September 2017

Yusuf A. Hannun

8

object named as

Yusuf A Hannun

1 reference

Europe PubMed Central

11 September 2017

author name string

Ying Sun

1

1 reference

Europe PubMed Central

11 September 2017

Benjamin Liou

2

1 reference

Europe PubMed Central

11 September 2017

Huimin Ran

3

1 reference

Europe PubMed Central

11 September 2017

Matthew R Skelton

4

1 reference

Europe PubMed Central

11 September 2017

Michael T Williams

5

1 reference

Europe PubMed Central

11 September 2017

Charles V Vorhees

6

1 reference

Europe PubMed Central

11 September 2017

Kazuyuki Kitatani

7

1 reference

Europe PubMed Central

11 September 2017

David P Witte

9

1 reference

Europe PubMed Central

11 September 2017

You-Hai Xu

10

1 reference

Europe PubMed Central

11 September 2017

Gregory A Grabowski

11

1 reference

Europe PubMed Central

11 September 2017

publication date

4 January 2010

1 reference

Europe PubMed Central

11 September 2017

Human Molecular Genetics

1 reference

Europe PubMed Central

11 September 2017

19

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Europe PubMed Central

11 September 2017

1088-1097

1 reference

Europe PubMed Central

11 September 2017

6

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Europe PubMed Central

11 September 2017

describes a project that uses

1 reference

Europe PubMed Central

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2830832/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2830832

11 September 2017

Defective autophagy in neurons and astrocytes from mice deficient in PI(3,5)P2.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2830832

11 September 2017

Neurological deficits and glycosphingolipid accumulation in saposin B deficient mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2830832

11 September 2017

Dependence of reversibility and progression of mouse neuronopathic Gaucher disease on acid beta-glucosidase residual activity levels

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2830832

11 September 2017

Molecular imaging of membrane interfaces reveals mode of beta-glucosidase activation by saposin C.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2830832

11 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=2830832

11 September 2017

Roles of LAMP-1 and LAMP-2 in lysosome biogenesis and autophagy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2830832

11 September 2017

Genetic diseases of sphingolipid metabolism: pathological mechanisms and therapeutic options

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2830832

11 September 2017

Gaucher disease: complexity in a "simple" disorder

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2830832

11 September 2017

Molecular and cell biology of acid beta-glucosidase and prosaposin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2830832

11 September 2017

Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2830832

11 September 2017

Characterization of human glucosylsphingosine glucosyl hydrolase and comparison with glucosylceramidase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2830832

11 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=2830832

14 September 2017

Proteolytic processing patterns of prosaposin in insect and mammalian cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2830832

25 September 2017

Combined saposin C and D deficiencies in mice lead to a neuronopathic phenotype, glucosylceramide and alpha-hydroxy ceramide accumulation, and altered prosaposin trafficking

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2830832

15 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2830832

15 June 2018

Long-term recording of LTP in cultured hippocampal slices

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2830832

15 June 2018

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=2830832

15 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=2830832

15 June 2018

Type 2 and type 3 Gaucher disease: a morphological and biochemical study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2830832

15 June 2018

Reactions of vessel walls and brain parenchyma to the accumulation of Gaucher cells in the Norrbottnian type (type III) of Gaucher disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2830832

15 June 2018

Light microscopic and ultrastructural study on CNS lesions in infantile Gaucher's disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2830832

15 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=2830832

15 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2830832

17 June 2018

NBR1 cooperates with p62 in selective autophagy of ubiquitinated targets.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2830832

21 August 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2830832

21 August 2018

Enhanced calcium release in the acute neuronopathic form of Gaucher disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2830832

21 August 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=2830832

21 August 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2830832

21 August 2018

Glucosylceramide and glucosylsphingosine modulate calcium mobilization from brain microsomes via different mechanisms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2830832

21 August 2018

Prosaposin: threshold rescue and analysis of the "neuritogenic" region in transgenic mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2830832

21 August 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=2830832

21 August 2018

The identification of eight novel glucocerebrosidase (GBA) mutations in patients with Gaucher disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2830832

21 August 2018

A mutation in the saposin A domain of the sphingolipid activator protein (prosaposin) gene results in a late-onset, chronic form of globoid cell leukodystrophy in the mouse

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2830832

21 August 2018

Turnover and distribution of intravenously administered mannose-terminated human acid beta-glucosidase in murine and human tissues.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2830832

21 August 2018

A biochemical and ultrastructural evaluation of the type 2 Gaucher mouse.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2830832

21 August 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2830832

21 August 2018

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20047948

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1093/HMG/DDP580

1 reference

Europe PubMed Central

11 September 2017

1 reference

Europe PubMed Central

11 September 2017

1 reference

Europe PubMed Central

11 September 2017

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