(Q43059581)

English

Saposin C mutations in Gaucher disease patients resulting in lysosomal lipid accumulation, saposin C deficiency, but normal prosaposin processing and sorting

scientific article published on 19 May 2010

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scholarly article

1 reference

Europe PubMed Central

13 November 2017

Saposin C mutations in Gaucher disease patients resulting in lysosomal lipid accumulation, saposin C deficiency, but normal prosaposin processing and sorting (English)

1 reference

Europe PubMed Central

13 November 2017

0 references

Gaucher's disease

1 reference

based on heuristic

inferred from title

Anna Tylki-Szymańska

8

object named as

Anna Tylki-Szymanska

1 reference

Europe PubMed Central

13 November 2017

author name string

Anna M Vaccaro

1

1 reference

Europe PubMed Central

13 November 2017

Marialetizia Motta

2

1 reference

Europe PubMed Central

13 November 2017

Massimo Tatti

3

1 reference

Europe PubMed Central

13 November 2017

Susanna Scarpa

4

1 reference

Europe PubMed Central

13 November 2017

Laura Masuelli

5

1 reference

Europe PubMed Central

13 November 2017

Meenakshi Bhat

6

1 reference

Europe PubMed Central

13 November 2017

Marie T Vanier

7

1 reference

Europe PubMed Central

13 November 2017

Rosa Salvioli

9

1 reference

Europe PubMed Central

13 November 2017

publication date

19 May 2010

1 reference

Europe PubMed Central

13 November 2017

Human Molecular Genetics

1 reference

Europe PubMed Central

13 November 2017

19

1 reference

Europe PubMed Central

13 November 2017

15

1 reference

Europe PubMed Central

13 November 2017

2987-2997

1 reference

Europe PubMed Central

13 November 2017

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ204

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/10.1093%2FHMG%2FDDQ204

21 January 2018

Mutational analysis in a patient with a variant form of Gaucher disease caused by SAP-2 deficiency

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ204

21 January 2018

Neuronopathic juvenile glucosylceramidosis due to sap-C deficiency: clinical course, neuropathology and brain lipid composition in this Gaucher disease variant.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ204

21 January 2018

A mutation within the saposin D domain in a Gaucher disease patient with normal glucocerebrosidase activity.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ204

21 January 2018

Non-neuronopathic Gaucher disease due to saposin C deficiency.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ204

21 January 2018

A novel mutation in the coding region of the prosaposin gene leads to a complete deficiency of prosaposin and saposins, and is associated with a complex sphingolipidosis dominated by lactosylceramide accumulation

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ204

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ204

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ204

21 January 2018

Ceramide accumulation mediates inflammation, cell death and infection susceptibility in cystic fibrosis

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ204

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ204

21 January 2018

Autophagy in Niemann-Pick C disease is dependent upon Beclin-1 and responsive to lipid trafficking defects

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ204

21 January 2018

A block of autophagy in lysosomal storage disorders

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ204

21 January 2018

Dysfunction of endocytic and autophagic pathways in a lysosomal storage disease.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ204

21 January 2018

Pancreatic islet expression profiling in diabetes-prone C57BLKS/J mice reveals transcriptional differences contributed by DBA loci, including Plagl1 and Nnt

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ204

21 January 2018

LC3, a mammalian homologue of yeast Apg8p, is localized in autophagosome membranes after processing

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ204

21 January 2018

LC3 conjugation system in mammalian autophagy

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ204

21 January 2018

How to interpret LC3 immunoblotting

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ204

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ204

21 January 2018

A mutation in the saposin C domain of the sphingolipid activator protein (Prosaposin) gene causes neurodegenerative disease in mice

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ204

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ204

21 January 2018

Saposin C is required for lipid presentation by human CD1b

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ204

21 January 2018

Stimulation of acid ceramidase activity by saposin D.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ204

21 January 2018

Mutation in saposin D domain of sphingolipid activator protein gene causes urinary system defects and cerebellar Purkinje cell degeneration with accumulation of hydroxy fatty acid-containing ceramide in mouse

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ204

21 January 2018

47 Enzymic diagnosis of sphingolipidoses

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ204

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ204

21 January 2018

Identifiers

10.1093/HMG/DDQ204

1 reference

Europe PubMed Central

13 November 2017

1 reference

Europe PubMed Central

13 November 2017

ResearchGate publication ID

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