(Q53663619)

English

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

scientific article published in August 2005

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scholarly article

1 reference

Europe PubMed Central

17 May 2018

http://europepmc.org/abstract/MED/16061944

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

1 reference

Europe PubMed Central

17 May 2018

http://europepmc.org/abstract/MED/16061944

0 references

author name string

Ying Sun

1

1 reference

Europe PubMed Central

17 May 2018

http://europepmc.org/abstract/MED/16061944

Brian Quinn

2

1 reference

Europe PubMed Central

17 May 2018

http://europepmc.org/abstract/MED/16061944

David P Witte

3

1 reference

Europe PubMed Central

17 May 2018

http://europepmc.org/abstract/MED/16061944

Gregory A Grabowski

4

1 reference

Europe PubMed Central

17 May 2018

http://europepmc.org/abstract/MED/16061944

publication date

1 August 2005

1 reference

Europe PubMed Central

17 May 2018

http://europepmc.org/abstract/MED/16061944

Journal of Lipid Research

1 reference

Europe PubMed Central

17 May 2018

http://europepmc.org/abstract/MED/16061944

46

1 reference

Europe PubMed Central

17 May 2018

http://europepmc.org/abstract/MED/16061944

10

1 reference

Europe PubMed Central

17 May 2018

http://europepmc.org/abstract/MED/16061944

2102-2113

1 reference

Europe PubMed Central

17 May 2018

http://europepmc.org/abstract/MED/16061944

Gaucher disease: Perspectives on a prototype lysosomal disease

1 reference

https://api.crossref.org/works/10.1194%2FJLR.M500202-JLR200

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1194%2FJLR.M500202-JLR200

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1194%2FJLR.M500202-JLR200

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1194%2FJLR.M500202-JLR200

21 January 2018

Genetic heterogeneity in type 1 Gaucher disease: multiple genotypes in Ashkenazic and non-Ashkenazic individuals

1 reference

https://api.crossref.org/works/10.1194%2FJLR.M500202-JLR200

21 January 2018

The Gaucher registry: demographics and disease characteristics of 1698 patients with Gaucher disease

1 reference

https://api.crossref.org/works/10.1194%2FJLR.M500202-JLR200

21 January 2018

Biosynthesis and molecular cloning of sulfated glycoprotein 1 secreted by rat Sertoli cells: sequence similarity with the 70-kilodalton precursor to sulfatide/GM1 activator

1 reference

https://api.crossref.org/works/10.1194%2FJLR.M500202-JLR200

21 January 2018

Structure of full-length cDNA coding for sulfatide activator, a Co-beta-glucosidase and two other homologous proteins: two alternate forms of the sulfatide activator

1 reference

https://api.crossref.org/works/10.1194%2FJLR.M500202-JLR200

21 January 2018

Coding of two sphingolipid activator proteins (SAP-1 and SAP-2) by same genetic locus

1 reference

https://api.crossref.org/works/10.1194%2FJLR.M500202-JLR200

21 January 2018

Structure and evolution of the human prosaposin chromosomal gene

1 reference

https://api.crossref.org/works/10.1194%2FJLR.M500202-JLR200

21 January 2018

Acid beta-glucosidase: enzymology and molecular biology of Gaucher disease

1 reference

https://api.crossref.org/works/10.1194%2FJLR.M500202-JLR200

21 January 2018

Saposins (sap) A and C activate the degradation of galactosylceramide in living cells

1 reference

https://api.crossref.org/works/10.1194%2FJLR.M500202-JLR200

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1194%2FJLR.M500202-JLR200

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1194%2FJLR.M500202-JLR200

21 January 2018

Mutation in the sphingolipid activator protein 2 in a patient with a variant of Gaucher disease

1 reference

https://api.crossref.org/works/10.1194%2FJLR.M500202-JLR200

21 January 2018

Proteolytic processing patterns of prosaposin in insect and mammalian cells

1 reference

https://api.crossref.org/works/10.1194%2FJLR.M500202-JLR200

21 January 2018

Biosynthesis, processing, and targeting of sphingolipid activator protein (SAP )precursor in cultured human fibroblasts. Mannose 6-phosphate receptor-independent endocytosis of SAP precursor

1 reference

https://api.crossref.org/works/10.1194%2FJLR.M500202-JLR200

21 January 2018

Isolation and characterization of prosaposin from human milk

1 reference

https://api.crossref.org/works/10.1194%2FJLR.M500202-JLR200

21 January 2018

The exon 8-containing prosaposin gene splice variant is dispensable for mouse development, lysosomal function, and secretion

1 reference

https://api.crossref.org/works/10.1194%2FJLR.M500202-JLR200

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1194%2FJLR.M500202-JLR200

21 January 2018

Successive isolation and separation of the major lipid fractions including gangliosides from single biological samples.

1 reference

https://api.crossref.org/works/10.1194%2FJLR.M500202-JLR200

21 January 2018

Ex vivo localization of the mouse saposin C activation region for acid beta-glucosidase

1 reference

https://api.crossref.org/works/10.1194%2FJLR.M500202-JLR200

21 January 2018

Targeted disruption of the mouse sphingolipid activator protein gene: a complex phenotype, including severe leukodystrophy and wide-spread storage of multiple sphingolipids.

1 reference

https://api.crossref.org/works/10.1194%2FJLR.M500202-JLR200

21 January 2018

The fine structure of the cerebroside occurring in Gaucher's disease

1 reference

https://api.crossref.org/works/10.1194%2FJLR.M500202-JLR200

21 January 2018

Identifiers

10.1194/JLR.M500202-JLR200

1 reference

Europe PubMed Central

17 May 2018

http://europepmc.org/abstract/MED/16061944

1 reference

Europe PubMed Central

17 May 2018

http://europepmc.org/abstract/MED/16061944

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