(Q72921443)

English

Prosaposin deficiency: further characterization of the sphingolipid activator protein-deficient sibs. Multiple glycolipid elevations (including lactosylceramidosis), partial enzyme deficiencies and ultrastructure of the skin in this generalized sphi

scientific article published on 01 September 1993

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8370580%20AND%20SRC:MED&resulttype=core&format=json

30 October 2019

Prosaposin deficiency: further characterization of the sphingolipid activator protein-deficient sibs. Multiple glycolipid elevations (including lactosylceramidosis), partial enzyme deficiencies and ultrastructure of the skin in this generalized sphingolipid storage disease (English)

1 reference

Europe PubMed Central

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30 October 2019

1 reference

based on heuristic

inferred from title

encephalopathy due to prosaposin deficiency

1 reference

based on heuristic

inferred from title

author name string

V Bradová

1

1 reference

Europe PubMed Central

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30 October 2019

F Smíd

2

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Europe PubMed Central

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30 October 2019

B Ulrich-Bott

3

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Europe PubMed Central

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30 October 2019

W Roggendorf

4

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Europe PubMed Central

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30 October 2019

B C Paton

5

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30 October 2019

K Harzer

6

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30 October 2019

publication date

1 September 1993

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Europe PubMed Central

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30 October 2019

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8370580%20AND%20SRC:MED&resulttype=core&format=json

30 October 2019

92

1 reference

Europe PubMed Central

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30 October 2019

2

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30 October 2019

143-152

1 reference

Europe PubMed Central

PubMed publication ID

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30 October 2019

Studies on a sphingolipid activator protein (SAP-2) in fibroblasts from patients with lysosomal storage diseases, including Niemann-Pick disease Type C

1 reference

https://pubmed.ncbi.nlm.nih.gov/8370580

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Type C Niemann-Pick Disease: Biochemical Aspects and Phenotypic Heterogeneity

1 reference

https://pubmed.ncbi.nlm.nih.gov/8370580

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Simultaneous deficiency of sphingolipid activator proteins 1 and 2 is caused by a mutation in the initiation codon of their common gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/8370580

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Metabolism of galactosylceramide in the twitcher mouse, an animal model of human globoid cell leukodystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/8370580

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Improved one-dimensional thin-layer chromatography for the separation of phospholipids in biological material

1 reference

https://pubmed.ncbi.nlm.nih.gov/8370580

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Human acid beta-glucosidase. Use of inhibitory and activating monoclonal antibodies to investigate the enzyme's catalytic mechanism and saposin A and C binding sites

1 reference

https://pubmed.ncbi.nlm.nih.gov/8370580

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/8370580

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The precursor of sulfatide activator protein is processed to three different proteins

1 reference

https://pubmed.ncbi.nlm.nih.gov/8370580

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Two dimensional then layer chromatographic separation of polar lipids and determination of phospholipids by phosphorus analysis of spots

1 reference

https://pubmed.ncbi.nlm.nih.gov/8370580

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Interaction of saposins, acidic lipids, and glucosylceramidase

1 reference

https://pubmed.ncbi.nlm.nih.gov/8370580

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Saposin A: second cerebrosidase activator protein

1 reference

https://pubmed.ncbi.nlm.nih.gov/8370580

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Localization of urinary lactosylceramide in cytoplasmic vesicles of renal tubular cells in homozygous familial hypercholesterolemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/8370580

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identity of the activator proteins for the enzymatic hydrolysis of sulfatide, ganglioside GM1, and globotriaosylceramide

1 reference

https://pubmed.ncbi.nlm.nih.gov/8370580

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A solvent partition method for microscale ganglioside purification.

1 reference

https://pubmed.ncbi.nlm.nih.gov/8370580

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Niemann-Pick disease type C with enhanced glycolipid storage

1 reference

https://pubmed.ncbi.nlm.nih.gov/8370580

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A densitometric method for the determination of gangliosides after their separation by thin-layer chromatography and detection with resorcinol reagent

1 reference

https://pubmed.ncbi.nlm.nih.gov/8370580

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8370580

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Immunochemical characterization of two activator proteins stimulating enzymic sphingomyelin degradation in vitro. Absence of one of them in a human Gaucher disease variant

1 reference

https://pubmed.ncbi.nlm.nih.gov/8370580

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Studies on the activation of the enzymatic hydrolysis of sphingomyelin liposomes

1 reference

https://pubmed.ncbi.nlm.nih.gov/8370580

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cerebroside sulfatase activator deficiency induced metachromatic leukodystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/8370580

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Isolation of two forms of an activator protein for the enzymic sphingomyelin degradation from human Gaucher spleen

1 reference

https://pubmed.ncbi.nlm.nih.gov/8370580

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

AB variant of infantile GM2 gangliosidosis: deficiency of a factor necessary for stimulation of hexosaminidase A-catalyzed degradation of ganglioside GM2 and glycolipid GA2

1 reference

https://pubmed.ncbi.nlm.nih.gov/8370580

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sphingolipid activator protein deficiency in a 16-week-old atypical Gaucher disease patient and his fetal sibling: biochemical signs of combined sphingolipidoses

1 reference

https://pubmed.ncbi.nlm.nih.gov/8370580

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Activator proteins for lysosomal glycolipid hydrolysis

1 reference

https://pubmed.ncbi.nlm.nih.gov/8370580

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Metabolism of GM1 ganglioside in cultured skin fibroblasts: anomalies in gangliosidoses, sialidoses, and sphingolipid activator protein (SAP, saposin) 1 and prosaposin deficient disorders

1 reference

https://pubmed.ncbi.nlm.nih.gov/8370580

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Activator protein required for the enzymatic hydrolysis of cerebroside sulfate. Deficiency in urine of patients affected with cerebroside sulfatase activator deficiency and identity with activators for the enzymatic hydrolysis of GM1 ganglioside and

1 reference

https://pubmed.ncbi.nlm.nih.gov/8370580

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A protein activator of galactosylceramide beta-galactosidase

1 reference

https://pubmed.ncbi.nlm.nih.gov/8370580

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8370580

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8370580

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ultrastructural findings in skin from patients with Niemann-Pick disease, type C

1 reference

https://pubmed.ncbi.nlm.nih.gov/8370580

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A simple method for the isolation and purification of total lipides from animal tissues

1 reference

https://pubmed.ncbi.nlm.nih.gov/8370580

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Krabbe disease: a galactosylsphingosine (psychosine) lipidosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/8370580

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Saposin D: a sphingomyelinase activator

1 reference

https://pubmed.ncbi.nlm.nih.gov/8370580

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Additional biochemical findings in a patient and fetal sibling with a genetic defect in the sphingolipid activator protein (SAP) precursor, prosaposin. Evidence for a deficiency in SAP-1 and for a normal lysosomal neuraminidase

1 reference

https://pubmed.ncbi.nlm.nih.gov/8370580

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Lysosomal sialidase deficiency: increased ganglioside content in autopsy tissues of a sialidosis patient

1 reference

https://pubmed.ncbi.nlm.nih.gov/8370580

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The quantitative estimation of cerebrosides in nervous tissue

1 reference

https://pubmed.ncbi.nlm.nih.gov/8370580

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8370580

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mucopolysaccharidosis: secondarily induced abnormal distribution of lysosomal isoenzymes

1 reference

https://pubmed.ncbi.nlm.nih.gov/8370580

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Analysis of the multiple forms of Gaucher spleen sphingolipid activator protein 2.

1 reference

https://pubmed.ncbi.nlm.nih.gov/8370580

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF00219682

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8370580%20AND%20SRC:MED&resulttype=core&format=json

30 October 2019

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8370580%20AND%20SRC:MED&resulttype=core&format=json

30 October 2019

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