(Q48067401)

English

Single base deletion in exon 7 of the glycosylasparaginase gene causes a mild form of aspartylglycosaminuria in a patient of Mauritian origin.

scientific article published in January 1996

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

8 February 2018

http://europepmc.org/abstract/MED/8830180

Single base deletion in exon 7 of the glycosylasparaginase gene causes a mild form of aspartylglycosaminuria in a patient of Mauritian origin. (English)

1 reference

Europe PubMed Central

PubMed publication ID

8 February 2018

http://europepmc.org/abstract/MED/8830180

author name string

H Park

1

1 reference

Europe PubMed Central

PubMed publication ID

8 February 2018

http://europepmc.org/abstract/MED/8830180

M Rossiter

2

1 reference

Europe PubMed Central

PubMed publication ID

8 February 2018

http://europepmc.org/abstract/MED/8830180

A H Fensom

3

1 reference

Europe PubMed Central

PubMed publication ID

8 February 2018

http://europepmc.org/abstract/MED/8830180

B Winchester

4

1 reference

Europe PubMed Central

PubMed publication ID

8 February 2018

http://europepmc.org/abstract/MED/8830180

N N Aronson

5

1 reference

Europe PubMed Central

PubMed publication ID

8 February 2018

http://europepmc.org/abstract/MED/8830180

publication date

1 January 1996

1 reference

Europe PubMed Central

PubMed publication ID

8 February 2018

http://europepmc.org/abstract/MED/8830180

Journal of Inherited Metabolic Disease

1 reference

Europe PubMed Central

PubMed publication ID

8 February 2018

http://europepmc.org/abstract/MED/8830180

19

1 reference

Europe PubMed Central

PubMed publication ID

8 February 2018

http://europepmc.org/abstract/MED/8830180

1

1 reference

Europe PubMed Central

PubMed publication ID

8 February 2018

http://europepmc.org/abstract/MED/8830180

76-83

1 reference

Europe PubMed Central

PubMed publication ID

8 February 2018

http://europepmc.org/abstract/MED/8830180

https://scigraph.springernature.com/pub.10.1007/bf01799351

0 references

The N-acetylation and estimation of hexosamines

1 reference

https://api.crossref.org/works/10.1007%2FBF01799351

21 January 2018

Characterization of three alleles causing aspartylglycosaminuria: two from a British family and one from an American patient

1 reference

https://api.crossref.org/works/10.1007%2FBF01799351

21 January 2018

Comparison of liver glycosylasparaginases from six vertebrates

1 reference

https://api.crossref.org/works/10.1007%2FBF01799351

21 January 2018

Deletion of the C-terminal end of aspartylglucosaminidase resulting in a lysosomal accumulation disease: evidence for a unique genomic rearrangement

1 reference

https://pubmed.ncbi.nlm.nih.gov/8830180

12 December 2020

based on heuristic

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Improved vectors for stable expression of foreign genes in mammalian cells by use of the untranslated leader sequence from EMC virus

1 reference

https://pubmed.ncbi.nlm.nih.gov/8830180

12 December 2020

based on heuristic

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Aspartylglycosaminuria in the Finnish population: identification of two point mutations in the heavy chain of glycoasparaginase

1 reference

https://pubmed.ncbi.nlm.nih.gov/8830180

12 December 2020

based on heuristic

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Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment

1 reference

https://pubmed.ncbi.nlm.nih.gov/8830180

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Lysosomal aspartylglucosaminidase is processed to the active subunit complex in the endoplasmic reticulum

1 reference

https://pubmed.ncbi.nlm.nih.gov/8830180

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Deletion of exon 8 causes glycosylasparaginase deficiency in an African American aspartylglucosaminuria (AGU) patient

1 reference

https://pubmed.ncbi.nlm.nih.gov/8830180

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Post-translational processing and Thr-206 are required for glycosylasparaginase activity

1 reference

https://pubmed.ncbi.nlm.nih.gov/8830180

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization of the mutation responsible for aspartylglucosaminuria in three Finnish patients. Amino acid substitution Cys163----Ser abolishes the activity of lysosomal glycosylasparaginase and its conversion into subunits

1 reference

https://pubmed.ncbi.nlm.nih.gov/8830180

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Aspartylglycosaminuria. Analysis of thirty-four patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/8830180

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

High prevalence of aspartylglycosaminuria among school-age children in eastern Finland

1 reference

https://pubmed.ncbi.nlm.nih.gov/8830180

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Aspartylglycosaminuria: protein chemistry and molecular biology of the most common lysosomal storage disorder of glycoprotein degradation

1 reference

https://pubmed.ncbi.nlm.nih.gov/8830180

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Aspartylglucosaminuria: cDNA encoding human aspartylglucosaminidase and the missense mutation causing the disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/8830180

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Glycosaparaginase from human leukocytes. Inactivation and covalent modification with diazo-oxonorvaline.

1 reference

https://pubmed.ncbi.nlm.nih.gov/8830180

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cloning and sequence analysis of a cDNA for human glycosylasparaginase. A single gene encodes the subunits of this lysosomal amidase

1 reference

https://pubmed.ncbi.nlm.nih.gov/8830180

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Chromosomal localization of the human glycoasparaginase gene to 4q32?q33

1 reference

https://pubmed.ncbi.nlm.nih.gov/8830180

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Glycoasparagine metabolites in patients with aspartylglycosaminuria: comparison between english and finnish patients with special reference to storage materials

1 reference

https://pubmed.ncbi.nlm.nih.gov/8830180

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genomic structure of human lysosomal glycosylasparaginase

1 reference

https://pubmed.ncbi.nlm.nih.gov/8830180

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Rapid and reliable protocol for direct sequencing of material amplified by the polymerase chain reaction

1 reference

https://pubmed.ncbi.nlm.nih.gov/8830180

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Spectrum of mutations in aspartylglucosaminuria

1 reference

https://pubmed.ncbi.nlm.nih.gov/8830180

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Use of eukaryotic expression technology in the functional analysis of cloned genes

1 reference

https://pubmed.ncbi.nlm.nih.gov/8830180

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Convenient and quantitative determination of the frequency of a mutant allele using solid-phase minisequencing: application to aspartylglucosaminuria in Finland

1 reference

https://pubmed.ncbi.nlm.nih.gov/8830180

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

BETA-(N-ACETYLGLUCOSAMINE)-N-GLYCOSIDASE: AN ENZYME WHICH CATALYZES THE HYDROLYSIS OF 1-BETA-ASPARTYL-2-ACETAMIDO-1,2-DIDEOXY-D-GLUCOSYLAMINE

1 reference

https://pubmed.ncbi.nlm.nih.gov/8830180

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Aspartylglycosaminuria. An inborn error of metabolism associated with mental defect.

1 reference

https://pubmed.ncbi.nlm.nih.gov/8830180

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization of a point mutation in aspartylglucosaminidase gene: evidence for a readthrough of a translational stop codon

1 reference

https://pubmed.ncbi.nlm.nih.gov/8830180

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF01799351

1 reference

Europe PubMed Central

PubMed publication ID

8 February 2018

http://europepmc.org/abstract/MED/8830180

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

8 February 2018

http://europepmc.org/abstract/MED/8830180

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