Mutations in the liver glycogen phosphorylase gene (PYGL) underlying glycogenosis type VI (Q24321597)

6 July 2017

Mutations in the liver glycogen phosphorylase gene (PYGL) underlying glycogenosis type VI (English)

1 reference

6 July 2017

glycogen phosphorylase L

1 reference

glycogen phosphorylase activity

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

Burwinkel B

1

B

Burwinkel

1 reference

6 July 2017

Bakker HD

2

H D

Bakker

1 reference

6 July 2017

Herschkovitz E

3

E

Herschkovitz

1 reference

6 July 2017

Moses SW

4

S W

Moses

1 reference

6 July 2017

Shin YS

5

Y S

Shin

1 reference

6 July 2017

Kilimann MW

6

M W

Kilimann

1 reference

6 July 2017

language of work or name

English

0 references

publication date

1 April 1998

1 reference

American Journal of Human Genetics

6 July 2017

1 reference

6 July 2017

62

1 reference

6 July 2017

4

1 reference

6 July 2017

785-791

1 reference

Phosphorylase-kinase-deficient liver glycogenosis with an unusual biochemical phenotype in blood cells associated with a missense mutation in the beta subunit gene (PHKB)

6 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377030

Autosomal recessive phosphorylase kinase deficiency in liver, caused by mutations in the gene encoding the beta subunit (PHKB)

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377030

Mutations in the testis/liver isoform of the phosphorylase kinase gamma subunit (PHKG2) cause autosomal liver glycogenosis in the gsd rat and in humans

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377030

Human brain glycogen phosphorylase. Cloning, sequence analysis, chromosomal mapping, tissue expression, and comparison with the human liver and muscle isozymes

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377030

Enzymatic studies of hepatic fragments; application to the classification of glycogenoses

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377030

Mutation hotspots in the PHKA2 gene in X-linked liver glycogenosis due to phosphorylase kinase deficiency with atypical activity in blood cells (XLG2)

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377030

Glycogen phosphorylase and its converter enzymes in haemolysates of normal human subjects and of patients with type VI glycogen-storage disease. A study of phosphorylase kinase deficiency

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377030

Liver glycogenosis due to phosphorylase kinase deficiency: PHKG2 gene structure and mutations associated with cirrhosis

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377030

Autosomal glycogenosis of liver and muscle due to phosphorylase kinase deficiency is caused by mutations in the phosphorylase kinase beta subunit (PHKB).

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377030

McArdle's disease-muscle glycogen phosphorylase deficiency.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377030

Quantitation of muscle glycogen phosphorylase mRNA and enzyme amounts in adult rat tissues

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377030

Sequence analysis of the cDNA encoding human liver glycogen phosphorylase reveals tissue-specific codon usage

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377030

Complete sequencing of the murine USF gene and comparison of its genomic organization to that of mFIP/USF2.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377030

Evolution of allosteric control in glycogen phosphorylase

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377030

Intron/exon structure of the human gene for the muscle isozyme of glycogen phosphorylase

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377030

Isoenzyme pattern of phosphorylase in white blood cells and fibroblasts from patients with liver phosphorylase deficiency

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377030

Human liver glycogen phosphorylase. Kinetic properties and assay in biopsy specimens

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377030

Chimeric muscle and brain glycogen phosphorylases define protein domains governing isozyme-specific responses to allosteric activation.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377030

Use of platelets, mononuclear and polymorphonuclear cells in the diagnosis of glycogen storage disease type VI

29 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9529348

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Biochemical diagnosis of hepatic glycogen storage diseases: 20 years French experience

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9529348

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Mutation analysis in myophosphorylase deficiency (McArdle's disease)

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9529348

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1086/301790

1 reference

release_ndqoejcg5bfyzknszflba5h4zi

6 July 2017

0 references

PMCID

1377030

1 reference

6 July 2017

1 reference