(Q37643452)

21 August 2017

Spectrum of mutations in aspartylglucosaminuria (English)

1 reference

21 August 2017

Ann-Christine Syvänen

object named as

Syvänen AC

1 reference

21 August 2017

E. Ikonen

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1722323

8 November 2022

P. Aula

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1722323

8 November 2022

K. Grön

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1722323

8 November 2022

O. Tollersrud

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1722323

8 November 2022

R. Halila

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1722323

8 November 2022

T. Manninen

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1722323

8 November 2022

A. C. Syvänen

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1722323

8 November 2022

L. Peltonen

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1722323

8 November 2022

language of work or name

English

0 references

publication date

1 December 1991

1 reference

PMC publication ID

53106

21 August 2017

15 December 1991

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1722323

full work available at URL

8 November 2022

https://europepmc.org/articles/PMC53106

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1722323

https://europepmc.org/articles/PMC53106?pdf=render

8 November 2022

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1722323

https://pnas.org/doi/pdf/10.1073/pnas.88.24.11222

8 November 2022

1 reference

Crossref

DOI

10.1073/PNAS.88.24.11222

https://api.crossref.org/works/10.1073/PNAS.88.24.11222

Proceedings of the National Academy of Sciences of the United States of America

8 November 2022

published in

1 reference

21 August 2017

1 reference

21 August 2017

1 reference

21 August 2017

11222-11226

1 reference

Disulphide bridges in globular proteins

21 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=53106

A simple method for displaying the hydropathic character of a protein

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=53106

Aspartylglucosaminuria in the United States

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=53106

Purification and characterization of rat liver glycosylasparaginase

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=53106

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=53106

Human leucocyte aspartylglucosaminidase. Evidence for two different subunits in a more complex native structure

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=53106

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=53106

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=53106

In vitro mutagenesis helps to unravel the biological consequences of aspartylglucosaminuria mutation

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=53106

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=53106

Analysis of the accuracy and implications of simple methods for predicting the secondary structure of globular proteins

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=53106

Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=53106

DNA sequencing with chain-terminating inhibitors

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=53106

Genetic analysis of protein stability and function

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=53106

Natural history and inherited disorders of a lysosomal enzyme, beta-hexosaminidase

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=53106

Letter: Aspartylglycosaminuria in Northern Norway

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=53106

Purification and some properties of 1-aspartamido-β-N-acetylglucosamine amidohydrolase from human liver

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=53106

Optimal conditions for directly sequencing double-stranded PCR products with sequenase

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=53106

Homozygous NADH-methemoglobin reductase and aspartylglucosaminidase deficiencies in a moderately retarded Sicilian child.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=53106

Aspartylglucosaminuria in a Puerto Rican family: additional features of a panethnic disorder.

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=53106

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

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=53106

Aspartylglucosaminuria: psychomotor retardation masquerading as a mucopolysaccharidosis

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=53106

Effect of different compounds on 1-aspartamido-beta-N-acetylglucosamine amidohydrolase from human liver

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=53106

Clinical and biochemical delineation of aspartyl-glycosaminuria as observed in two members of an Italian family.

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=53106

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

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=53106

Enzymatic cleavage of glycopeptides

1 September 2018

1 reference

12 December 2020

A primer-guided nucleotide incorporation assay in the genotyping of apolipoprotein E

1 reference

12 December 2020

Screening of inherited oligosaccharidurias among mentally retarded patients in northern Finland

1 reference

12 December 2020

[Aspartylglucosaminuria. Clinical description of 2 German patients]

1 reference

12 December 2020

First-trimester prenatal diagnosis of aspartylglucosaminuria

1 reference

12 December 2020

Use of protein A-bearing staphylococci for the immunoprecipitation and isolation of antigens from cells

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.88.24.11222

1 reference

21 August 2017

0 references

1 reference

PMC publication ID

53106

21 August 2017

1 reference

PMC publication ID

53106