(Q28288870)

English

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

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scholarly article

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

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1 reference

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inferred from title

metachromatic leukodystrophy

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author name string

X L Zhang

1

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M A Rafi

2

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G DeGala

3

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D A Wenger

4

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language of work or name

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publication date

June 1991

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87

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2

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211-5

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A variant form of metachromatic leukodystrophy without arylsulfatase deficiency

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https://pubmed.ncbi.nlm.nih.gov/2066109

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Nucleotide sequence of cloned cDNA for human sphingolipid activator protein 1 precursor

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https://pubmed.ncbi.nlm.nih.gov/2066109

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Saposin A: second cerebrosidase activator protein

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https://pubmed.ncbi.nlm.nih.gov/2066109

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Assignment of the gene for human sphingolipid activator protein-2 (SAP-2) to chromosome 10.

1 reference

https://pubmed.ncbi.nlm.nih.gov/2066109

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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://pubmed.ncbi.nlm.nih.gov/2066109

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

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https://pubmed.ncbi.nlm.nih.gov/2066109

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular cloning of a human co-beta-glucosidase cDNA: evidence that four sphingolipid hydrolase activator proteins are encoded by single genes in humans and rats

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https://pubmed.ncbi.nlm.nih.gov/2066109

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

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https://pubmed.ncbi.nlm.nih.gov/2066109

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

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https://pubmed.ncbi.nlm.nih.gov/2066109

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/2066109

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Metachromatic leukodystrophy without arylsulfatase A deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/2066109

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

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https://pubmed.ncbi.nlm.nih.gov/2066109

12 December 2020

based on heuristic

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A protein activator of galactosylceramide beta-galactosidase.

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https://pubmed.ncbi.nlm.nih.gov/2066109

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Processed genes: a dispersed human immunoglobulin gene bearing evidence of RNA-type processing.

1 reference

https://pubmed.ncbi.nlm.nih.gov/2066109

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/2066109

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/2066109

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/2066109

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/2066109

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/2066109

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The gene coding for a sphingolipid activator protein, SAP-1, is on human chromosome 10

1 reference

https://pubmed.ncbi.nlm.nih.gov/2066109

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Organization and expression of eucaryotic split genes coding for proteins

1 reference

https://pubmed.ncbi.nlm.nih.gov/2066109

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/2066109

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Immunological evidence for deficiency in an activator protein for sulfatide sulfatase in a variant form of metachromatic leukodystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/2066109

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF00204185

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Springer Nature article ID

10.1007/bf00204185

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