(Q41565600)

3 October 2017

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

1 reference

3 October 2017

H Park

1

1 reference

3 October 2017

M B Vettese

2

1 reference

3 October 2017

A H Fensom

3

1 reference

3 October 2017

K J Fisher

4

1 reference

3 October 2017

N N Aronson

5

1 reference

3 October 2017

language of work or name

English

0 references

publication date

1 March 1993

1 reference

3 October 2017

7

1 reference

inferred from page(s)

published in

Biochemical Journal

1 reference

3 October 2017

290 ( Pt 3)

1 reference

3 October 2017

735-741

1 reference

Aspartylglucosaminuria in the United States

3 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1132342

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1132342

Expression of cDNA encoding the human "protective protein" associated with lysosomal beta-galactosidase and neuraminidase: homology to yeast proteases

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1132342

Deletion in cysteine-rich region of LDL receptor impedes transport to cell surface in WHHL rabbit

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1132342

Lysosomal degradation of Asn-linked glycoproteins

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1132342

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1132342

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1132342

Expression and routeing of human lysosomal alpha-glucosidase in transiently transfected mammalian cells

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1132342

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1132342

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1132342

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1132342

Structural and thermodynamic analysis of the packing of two alpha-helices in bacteriophage T4 lysozyme

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1132342

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1132342

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1132342

Genomic structure of human lysosomal glycosylasparaginase

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1132342

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1132342

Spectrum of mutations in aspartylglucosaminuria

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1132342

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1132342

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1132342

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

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1132342

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

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1132342

Eleven new cases of aspartylglucosaminuria

19 August 2018

1 reference

12 December 2020

Aspartylglycosaminuria (AGU). Further aspects on its clinical picture, mode of inheritance and epidemiology based on a series of 57 patients

1 reference

12 December 2020

Aspartylglucosaminuria: Deficiency of aspartylglucosaminidase in cultured fibroblasts of patients and their heterozygous parents

1 reference

12 December 2020

Detection of heterozygotes for aspartylglucosaminuria (AGU) in cultured fibroblasts

1 reference

12 December 2020

Immunocytochemistry of lysosomal hydrolases and their precursor forms in normal and mutant human cells

1 reference

12 December 2020

Structures at the proteolytic processing region of cathepsin D

1 reference

12 December 2020

Identifiers

DOI

10.1042/BJ2900735

1 reference

3 October 2017

1 reference

3 October 2017

PubMed publication ID

8457202

1 reference