(Q40436256)

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The N370S (Asn370-->Ser) mutation affects the capacity of glucosylceramidase to interact with anionic phospholipid-containing membranes and saposin C

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scholarly article

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10 January 2020

The N370S (Asn370-->Ser) mutation affects the capacity of glucosylceramidase to interact with anionic phospholipid-containing membranes and saposin C (English)

1 reference

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10 January 2020

Federica Felicetti

6

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10 January 2020

Christine R. Kaneski

7

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10 January 2020

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Rosa Salvioli

1

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10 January 2020

Massimo Tatti

2

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10 January 2020

Susanna Scarpa

3

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10 January 2020

Sabrina Maria Moavero

4

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10 January 2020

Fiorella Ciaffoni

5

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10 January 2020

Roscoe O Brady

8

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10 January 2020

Anna Maria Vaccaro

9

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10 January 2020

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1 August 2005

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10 January 2020

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9

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Biochemical Journal

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10 January 2020

390

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10 January 2020

Pt 1

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10 January 2020

95-103

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10 January 2020

Glucosylceramidase mass and subcellular localization are modulated by cholesterol in Niemann-Pick disease type C.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1184565

22 September 2017

Solution structure of human saposin C: pH-dependent interaction with phospholipid vesicles

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1184565

22 September 2017

METABOLISM OF GLUCOCEREBROSIDES. II. EVIDENCE OF AN ENZYMATIC DEFICIENCY IN GAUCHER'S DISEASE.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1184565

22 September 2017

X-ray structure of human acid-β-glucosidase, the defective enzyme in Gaucher disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1184565

22 September 2017

The endocytic pathway: a mosaic of domains

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1184565

22 September 2017

Further studies on the reconstitution of glucosylceramidase activity by Sap C and anionic phospholipids

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1184565

22 September 2017

Lipid changes in Niemann-Pick disease type C brain: personal experience and review of the literature

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1184565

22 September 2017

Role of pH in determining the cell-type-specific residual activity of glucocerebrosidase in type 1 Gaucher disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1184565

22 September 2017

Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1184565

22 September 2017

Gaucher's disease: deficiency of 'acid' -glucosidase and reconstitution of enzyme activity in vitro

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1184565

22 September 2017

Ultrastructural localization of glucocerebrosidase in cultured Gaucher's disease fibroblasts by immunocytochemistry

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1184565

22 September 2017

Mammalian glucocerebrosidase: implications for Gaucher's disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1184565

22 September 2017

Acidification of the endocytic and exocytic pathways

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1184565

22 September 2017

The biogenesis of lysosomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1184565

22 September 2017

Analyses of catalytic activity and inhibitor binding of human acid beta-glucosidase by site-directed mutagenesis. Identification of residues critical to catalysis and evidence for causality of two Ashkenazi Jewish Gaucher disease type 1 mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1184565

22 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1184565

22 September 2017

Saposin proteins: structure, function, and role in human lysosomal storage disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1184565

22 September 2017

The importance of being acid: the role of acidification in intracellular membrane traffic

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1184565

22 September 2017

Separation and characterization of late endosomal membrane domains

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1184565

25 September 2017

Late endosomal membranes rich in lysobisphosphatidic acid regulate cholesterol transport

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1184565

25 September 2017

A lipid associated with the antiphospholipid syndrome regulates endosome structure and function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1184565

25 September 2017

Gaucher's disease: molecular, genetic and enzymological aspects

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1184565

17 June 2018

Glucocerebrosidase (Gaucher disease).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1184565

17 June 2018

Analysis of human acid beta-glucosidase by site-directed mutagenesis and heterologous expression.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1184565

17 June 2018

Glucocerebrosidase: reconstitution from macromolecular components depends on acidic phospholipids (Short Communication)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1184565

17 June 2018

Biosynthesis of the lysosomal enzyme glucocerebrosidase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1184565

17 June 2018

A procedure for the rapid purification in high yield of human glucocerebrosidase using immunoaffinity chromatography with monoclonal antibodies.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1184565

17 June 2018

Immunocytochemical localization of sphingolipid activator protein 2 (SAP-2) in normal and SAP-deficient fibroblasts.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1184565

17 June 2018

Clinical phenotype of Gaucher disease in relation to properties of mutant glucocerebrosidase in cultured fibroblasts

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1184565

17 June 2018

Characterization of human glucocerebrosidase from different mutant alleles

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1184565

17 June 2018

Solubilization of glucocerebrosidase from human placenta and demonstration of a phospholipid requirement for its catalytic activity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1184565

17 June 2018

Sphingolipid storage induces accumulation of intracellular cholesterol by stimulating SREBP-1 cleavage

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1184565

20 August 2018

Cholesterol modulates membrane traffic along the endocytic pathway in sphingolipid-storage diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1184565

20 August 2018

Lipids, lipid domains and lipid–protein interactions in endocytic membrane traffic

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1184565

2 December 2018

Biochemical studies in Niemann-Pick disease. I. Major sphingolipids of liver and spleen

1 reference

https://pubmed.ncbi.nlm.nih.gov/15826241

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Biosynthesis and maturation of glucocerebrosidase in Gaucher fibroblasts

1 reference

https://pubmed.ncbi.nlm.nih.gov/15826241

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Activator protein deficient Gaucher's disease. A second patient with the newly identified lipid storage disorder

1 reference

https://pubmed.ncbi.nlm.nih.gov/15826241

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Function of oligosaccharide modification in glucocerebrosidase, a membrane-associated lysosomal hydrolase

1 reference

https://pubmed.ncbi.nlm.nih.gov/15826241

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Conditions affecting the activity of glucocerebrosidase purified from spleens of control subjects and patients with type 1 Gaucher disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/15826241

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Saposins and their interaction with lipids

1 reference

https://pubmed.ncbi.nlm.nih.gov/15826241

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Function of saposin C in the reconstitution of glucosylceramidase by phosphatidylserine liposomes

1 reference

https://pubmed.ncbi.nlm.nih.gov/15826241

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

pH-dependent conformational properties of saposins and their interactions with phospholipid membranes

1 reference

https://pubmed.ncbi.nlm.nih.gov/15826241

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Effect of saposins A and C on the enzymatic hydrolysis of liposomal glucosylceramide

1 reference

https://pubmed.ncbi.nlm.nih.gov/15826241

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1042/BJ20050325

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Europe PubMed Central

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10 January 2020

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Europe PubMed Central

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10 January 2020

1 reference

Europe PubMed Central

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10 January 2020

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