(Q38315286)

English

A non-glycosylated and functionally deficient mutant (N215H) of the sphingolipid activator protein B (SAP-B) in a novel case of metachromatic leukodystrophy (MLD).

scientific article published on February 2000

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scholarly article

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Europe PubMed Central

PubMed publication ID

2 September 2017

A non-glycosylated and functionally deficient mutant (N215H) of the sphingolipid activator protein B (SAP-B) in a novel case of metachromatic leukodystrophy (MLD). (English)

1 reference

Europe PubMed Central

PubMed publication ID

2 September 2017

1 reference

based on heuristic

inferred from title

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metachromatic leukodystrophy

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author name string

Wrobe D

1

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Europe PubMed Central

PubMed publication ID

2 September 2017

Henseler M

2

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Europe PubMed Central

PubMed publication ID

2 September 2017

Huettler S

3

1 reference

Europe PubMed Central

PubMed publication ID

2 September 2017

Pascual Pascual SI

4

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Europe PubMed Central

PubMed publication ID

2 September 2017

Chabas A

5

1 reference

Europe PubMed Central

PubMed publication ID

2 September 2017

Sandhoff K

6

1 reference

Europe PubMed Central

PubMed publication ID

2 September 2017

publication date

1 February 2000

1 reference

Europe PubMed Central

PubMed publication ID

2 September 2017

Journal of Inherited Metabolic Disease

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Europe PubMed Central

PubMed publication ID

2 September 2017

23

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Europe PubMed Central

PubMed publication ID

2 September 2017

1

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Europe PubMed Central

PubMed publication ID

2 September 2017

63-76

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Europe PubMed Central

PubMed publication ID

2 September 2017

A simple and novel method for tritium labeling of gangliosides and other sphingolipids

1 reference

https://pubmed.ncbi.nlm.nih.gov/10682309

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Accumulation of sphingolipids in SAP-precursor (prosaposin)-deficient fibroblasts occurs as intralysosomal membrane structures and can be completely reversed by treatment with human SAP-precursor

1 reference

https://pubmed.ncbi.nlm.nih.gov/10682309

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Glycosphingolipid specificity of the human sulfatide activator protein

1 reference

https://pubmed.ncbi.nlm.nih.gov/10682309

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/10682309

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/10682309

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Analysis of a splice-site mutation in the sap-precursor gene of a patient with metachromatic leukodystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/10682309

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/10682309

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/10682309

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/10682309

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Secretion of sphingolipid hydrolase activator precursor, prosaposin

1 reference

https://pubmed.ncbi.nlm.nih.gov/10682309

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/10682309

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Activator proteins and topology of lysosomal sphingolipid catabolism.

1 reference

https://pubmed.ncbi.nlm.nih.gov/10682309

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The effect of carbohydrate removal on stability and activity of saposin B.

1 reference

https://pubmed.ncbi.nlm.nih.gov/10682309

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

DNA sequencing with chain-terminating inhibitors

1 reference

https://pubmed.ncbi.nlm.nih.gov/10682309

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/10682309

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/10682309

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The organization of the gene for the human cerebroside sulfate activator protein

1 reference

https://pubmed.ncbi.nlm.nih.gov/10682309

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cellular uptake of saposin (SAP) precursor and lysosomal delivery by the low density lipoprotein receptor-related protein (LRP).

1 reference

https://pubmed.ncbi.nlm.nih.gov/10682309

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Recent advances in the biochemistry of sphingolipidoses

1 reference

https://pubmed.ncbi.nlm.nih.gov/10682309

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Synthesis and processing of sphingolipid activator protein-2 (SAP-2) in cultured human fibroblasts

1 reference

https://pubmed.ncbi.nlm.nih.gov/10682309

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Biosynthesis of the sulfatide/GM1 activator protein (SAP-1) in control and mutant cultured skin fibroblasts

1 reference

https://pubmed.ncbi.nlm.nih.gov/10682309

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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://pubmed.ncbi.nlm.nih.gov/10682309

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization of a mutation in a family with saposin B deficiency: a glycosylation site defect

1 reference

https://pubmed.ncbi.nlm.nih.gov/10682309

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Diagnosis of metachromatic leukodystrophy, Krabbe disease, and Farber disease after uptake of fatty acid-labeled cerebroside sulfate into cultured skin fibroblasts

1 reference

https://pubmed.ncbi.nlm.nih.gov/10682309

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Topology of glycosphingolipid degradation

1 reference

https://pubmed.ncbi.nlm.nih.gov/10682309

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sphingolipid activator protein D (sap-D) stimulates the lysosomal degradation of ceramide in vivo

1 reference

https://pubmed.ncbi.nlm.nih.gov/10682309

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sulfatide activator protein. Alternative splicing that generates three mRNAs and a newly found mutation responsible for a clinical disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/10682309

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The mechanism for a 33-nucleotide insertion in mRNA causing sphingolipid activator protein (SAP-1)-deficient metachromatic leukodystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/10682309

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Detection of a point mutation in sphingolipid activator protein-1 mRNA in patients with a variant form of metachromatic leukodystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/10682309

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/10682309

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Insertion in the mRNA of a metachromatic leukodystrophy patient with sphingolipid activator protein-1 deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/10682309

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sphingolipid hydrolase activator proteins and their precursors.

1 reference

https://pubmed.ncbi.nlm.nih.gov/10682309

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Expression of the three alternative forms of the sphingolipid activator protein precursor in baby hamster kidney cells and functional assays in a cell culture system

1 reference

https://pubmed.ncbi.nlm.nih.gov/10682309

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1023/A:1005603014401

1 reference

Europe PubMed Central

PubMed publication ID

2 September 2017

Dimensions Publication ID

0 references

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

2 September 2017

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