(Q41870316)

English

The conservative substitution Asp-645-->Glu in lysosomal alpha-glucosidase affects transport and phosphorylation of the enzyme in an adult patient with glycogen-storage disease type II.

scientific article published on February 1993

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

PMC publication ID

13 October 2017

The conservative substitution Asp-645-->Glu in lysosomal alpha-glucosidase affects transport and phosphorylation of the enzyme in an adult patient with glycogen-storage disease type II. (English)

1 reference

Europe PubMed Central

PMC publication ID

13 October 2017

phosphorylation

1 reference

based on heuristic

inferred from title

author name string

Hermans MM

1

1 reference

Europe PubMed Central

PMC publication ID

13 October 2017

de Graaff E

2

1 reference

Europe PubMed Central

PMC publication ID

13 October 2017

Kroos MA

3

1 reference

Europe PubMed Central

PMC publication ID

13 October 2017

Wisselaar HA

4

1 reference

Europe PubMed Central

PMC publication ID

13 October 2017

Willemsen R

5

1 reference

Europe PubMed Central

PMC publication ID

13 October 2017

Oostra BA

6

1 reference

Europe PubMed Central

PMC publication ID

13 October 2017

Reuser AJ

7

1 reference

Europe PubMed Central

PMC publication ID

13 October 2017

language of work or name

0 references

publication date

1 February 1993

1 reference

Europe PubMed Central

PMC publication ID

13 October 2017

Biochemical Journal

1 reference

Europe PubMed Central

PMC publication ID

13 October 2017

289 ( Pt 3)

1 reference

Europe PubMed Central

PMC publication ID

13 October 2017

687-693

1 reference

Europe PubMed Central

PMC publication ID

13 October 2017

alpha-Glucosidase deficiency in generalized glycogenstorage disease (Pompe's disease).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1132230

5 June 2018

Human lysosomal alpha-glucosidase: functional characterization of the glycosylation sites

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1132230

5 June 2018

The use of synthetic oligonucleotides as hybridization probes. II. Hybridization of oligonucleotides of mixed sequence to rabbit β-globin DNA

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1132230

5 June 2018

Biosynthesis of lysosomal enzymes in fibroblasts. Synthesis as precursors of higher molecular weight.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1132230

5 June 2018

Genetic heterogeneity in acid alpha-glucosidase deficiency.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1132230

5 June 2018

Isolation of a cDNA for human acid alpha-glucosidase and detection of genetic heterogeneity for mRNA in three alpha-glucosidase-deficient patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1132230

5 June 2018

Clinical diversity in glycogenosis type II. Biosynthesis and in situ localization of acid alpha-glucosidase in mutant fibroblasts

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1132230

5 June 2018

Primary structure and processing of lysosomal alpha-glucosidase; homology with the intestinal sucrase-isomaltase complex

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1132230

5 June 2018

Biosynthesis of the mannose 6-phosphate recognition marker in transport-impaired mouse lymphoma cells. Demonstration of a two-step phosphorylation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1132230

5 June 2018

Control of protein exit from the endoplasmic reticulum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1132230

5 June 2018

Glycogenosis type II: protein and DNA analysis in five South African families from various ethnic origins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1132230

5 June 2018

Adult and infantile glycogenosis type II in one family, explained by allelic diversity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1132230

5 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1132230

5 June 2018

Extensive genetic heterogeneity in patients with acid alpha glucosidase deficiency as detected by abnormalities of DNA and mRNA

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1132230

5 June 2018

Sequence of the cDNA and 5'-flanking region for human acid alpha-glucosidase, detection of an intron in the 5' untranslated leader sequence, definition of 18-bp polymorphisms, and differences with previous cDNA and amino acid sequences

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1132230

5 June 2018

Construction of T-vectors, a rapid and general system for direct cloning of unmodified PCR products

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1132230

5 June 2018

Identification of a point mutation in the human lysosomal alpha-glucosidase gene causing infantile glycogenosis type II

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1132230

5 June 2018

Human lysosomal alpha-glucosidase. Characterization of the catalytic site

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1132230

5 June 2018

Identification of a missense mutation in an adult-onset patient with glycogenosis type II expressing only one allele

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1132230

5 June 2018

Identification of a missense mutation in one allele of a patient with Pompe disease, and use of endonuclease digestion of PCR-amplified RNA to demonstrate lack of mRNA expression from the second allele

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1132230

5 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1132230

5 June 2018

Prediction of the Secondary Structure of Proteins from their Amino Acid Sequence

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1132230

5 June 2018

Biochemical, immunological, and cell genetic studies in glycogenosis type II

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1132230

5 June 2018

Characterization of the molecular defect in infantile and adult acid alpha-glucosidase deficiency fibroblasts

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1132230

5 June 2018

Adult forms of glycogenosis type II. A defect in an early stage of acid alpha-glucosidase realization

1 reference

https://pubmed.ncbi.nlm.nih.gov/8094613

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Defects in synthesis, phosphorylation, and maturation of acid alpha-glucosidase in glycogenosis type II

1 reference

https://pubmed.ncbi.nlm.nih.gov/8094613

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Biosynthesis and intracellular transport of alpha-glucosidase and cathepsin D in normal and mutant human fibroblasts

1 reference

https://pubmed.ncbi.nlm.nih.gov/8094613

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mannose processing is an important determinant in the assembly of phosphorylated high mannose-type oligosaccharides

1 reference

https://pubmed.ncbi.nlm.nih.gov/8094613

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1042/BJ2890687

1 reference

Europe PubMed Central

PMC publication ID

13 October 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

13 October 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

13 October 2017

ResearchGate publication ID

0 references

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q41870316&oldid=1549657593"