Mutations in the testis/liver isoform of the phosphorylase kinase gamma subunit (PHKG2) cause autosomal liver glycogenosis in the gsd rat and in humans (Q24317354)

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

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scholarly article

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

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Phosphorylase kinase catalytic subunit gamma 2

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GOA release 2020-03-11

generation of precursor metabolites and energy

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GOA release 2020-03-11

author name string

A J Maichele

1

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B Burwinkel

2

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I Maire

3

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O Søvik

4

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M W Kilimann

5

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language of work or name

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publication date

November 1996

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Nature Genetics

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14

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3

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337-40

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https://scigraph.springernature.com/pub.10.1038/ng1196-337

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

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https://api.crossref.org/works/10.1038/NG1196-337

20 April 2017

X-linked liver glycogenosis type II (XLG II) is caused by mutations in PHKA2, the gene encoding the liver alpha subunit of phosphorylase kinase

1 reference

https://api.crossref.org/works/10.1038/NG1196-337

20 April 2017

Localisation of the gene encoding the catalytic gamma subunit of phosphorylase kinase to human chromosome bands 7p12-q21

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https://api.crossref.org/works/10.1038/NG1196-337

20 April 2017

Isolation and characterization of transcribed sequences from a chromosome 16 hn-cDNA library and the physical mapping of genes and transcribed sequences using a high-resolution somatic cell panel of human chromosome 16

1 reference

https://api.crossref.org/works/10.1038/NG1196-337

20 April 2017

Localization of the human bona fide calmodulin genes CALM1, CALM2, and CALM3 to chromosomes 14q24-q31, 2p21.1-p21.3, and 19q13.2-q13.3.

1 reference

https://api.crossref.org/works/10.1038%2FNG1196-337

21 January 2018

cDNA encoding a 59 kDa homolog of ribosomal protein S6 kinase from rabbit liver

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https://api.crossref.org/works/10.1038%2FNG1196-337

21 January 2018

Protein kinase catalytic domain sequence database: identification of conserved features of primary structure and classification of family members

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https://api.crossref.org/works/10.1038%2FNG1196-337

21 January 2018

cDNA cloning of a liver isoform of the phosphorylase kinase alpha subunit and mapping of the gene to Xp22.2-p22.1, the region of human X-linked liver glycogenosis

1 reference

https://api.crossref.org/works/10.1038%2FNG1196-337

7 January 2021

based on heuristic

inferred from DOI database lookup

Isolation of cDNA clones for the catalytic gamma subunit of mouse muscle phosphorylase kinase: expression of mRNA in normal and mutant Phk mice

1 reference

https://api.crossref.org/works/10.1038%2FNG1196-337

7 January 2021

based on heuristic

inferred from DOI database lookup

Messenger ribonucleic acid encoding an apparent isoform of phosphorylase kinase catalytic subunit is abundant in the adult testis

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https://api.crossref.org/works/10.1038%2FNG1196-337

7 January 2021

based on heuristic

inferred from DOI database lookup

Structure of the human gene encoding the phosphorylase kinase beta subunit (PHKB).

1 reference

https://api.crossref.org/works/10.1038%2FNG1196-337

7 January 2021

based on heuristic

inferred from DOI database lookup

Phosphorylase kinase deficiency in I-strain mice is associated with a frameshift mutation in the alpha subunit muscle isoform.

1 reference

https://api.crossref.org/works/10.1038%2FNG1196-337

7 January 2021

based on heuristic

inferred from DOI database lookup

Human muscle glycogenosis due to phosphorylase kinase deficiency associated with a nonsense mutation in the muscle isoform of the alpha subunit

1 reference

https://api.crossref.org/works/10.1038%2FNG1196-337

7 January 2021

based on heuristic

inferred from DOI database lookup

Phosphorylase Kinase of the Liver: Deficiency in a Girl with Increased Hepatic Glycogen

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https://api.crossref.org/works/10.1038%2FNG1196-337

7 January 2021

based on heuristic

inferred from DOI database lookup

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

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https://api.crossref.org/works/10.1038%2FNG1196-337

7 January 2021

based on heuristic

inferred from DOI database lookup

The autosomal form of phosphorylase kinase defficiency in man: Reduced activity of the muscle enzyme

1 reference

https://api.crossref.org/works/10.1038%2FNG1196-337

7 January 2021

based on heuristic

inferred from DOI database lookup

A new variant of glycogen storage disease. Type IXc

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https://api.crossref.org/works/10.1038%2FNG1196-337

7 January 2021

based on heuristic

inferred from DOI database lookup

Phosphorylase kinase deficiency: severe glycogen storage disease with evidence of autosomal recessive mode of inheritance.

1 reference

https://api.crossref.org/works/10.1038%2FNG1196-337

7 January 2021

based on heuristic

inferred from DOI database lookup

Glycogen phosphorylase b kinase deficiency in three siblings

1 reference

https://api.crossref.org/works/10.1038%2FNG1196-337

7 January 2021

based on heuristic

inferred from DOI database lookup

Enzymatic analysis in lymphocytes and erythrocytes from six patients with different phenotypes of phosphorylase kinase deficiency

1 reference

https://api.crossref.org/works/10.1038%2FNG1196-337

7 January 2021

based on heuristic

inferred from DOI database lookup

Phosphorylase b kinase deficiency in a boy with glycogenosis affecting both liver and muscle

1 reference

https://api.crossref.org/works/10.1038%2FNG1196-337

7 January 2021

based on heuristic

inferred from DOI database lookup

Phosphorylase b kinase deficiency glycogenosis with cirrhosis of the liver

1 reference

https://api.crossref.org/works/10.1038%2FNG1196-337

7 January 2021

based on heuristic

inferred from DOI database lookup

The glycogen storage disease (gsd/gsd) rat.

1 reference

https://api.crossref.org/works/10.1038%2FNG1196-337

7 January 2021

based on heuristic

inferred from DOI database lookup

Human cDNA encoding the muscle isoform of the phosphorylase kinase gamma subunit (PHKG1)

1 reference

https://api.crossref.org/works/10.1038%2FNG1196-337

7 January 2021

based on heuristic

inferred from DOI database lookup

Two structures of the catalytic domain of phosphorylase kinase: an active protein kinase complexed with substrate analogue and product

1 reference

https://api.crossref.org/works/10.1038%2FNG1196-337

7 January 2021

based on heuristic

inferred from DOI database lookup

Three protein kinase structures define a common motif

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https://api.crossref.org/works/10.1038%2FNG1196-337

7 January 2021

based on heuristic

inferred from DOI database lookup

Comparison of Glycogen Phosphorylase Kinases of Various Rat Tissues1

1 reference

https://api.crossref.org/works/10.1038%2FNG1196-337

7 January 2021

based on heuristic

inferred from DOI database lookup

The testis isoform of the phosphorylase kinase catalytic subunit (PhK-gammaT) plays a critical role in regulation of glycogen mobilization in developing lung

1 reference

https://api.crossref.org/works/10.1038%2FNG1196-337

7 January 2021

based on heuristic

inferred from DOI database lookup

Proximal renal tubular acidosis associated with glycogen storage disease, type 9

1 reference

https://api.crossref.org/works/10.1038%2FNG1196-337

7 January 2021

based on heuristic

inferred from DOI database lookup

The natural history of liver glycogenosis due to phosphorylase kinase deficiency: a longitudinal study of 41 patients

1 reference

https://api.crossref.org/works/10.1038%2FNG1196-337

7 January 2021

based on heuristic

inferred from DOI database lookup

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10.1038/NG1196-337

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