(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

inferred from PubMed ID database lookup

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

inferred from PubMed ID database lookup

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

inferred from PubMed ID database lookup

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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