(Q28283311)

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PGK deficiency

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Europe PubMed Central

PGK deficiency (English)

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author name string

Ernest Beutler

1

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publication date

January 2007

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British Journal of Haematology

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136

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3-11

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1

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Gaucher disease: new molecular approaches to diagnosis and treatment

1 reference

https://api.crossref.org/works/10.1111/J.1365-2141.2006.06351.X

21 April 2017

Molecular abnormality of phosphoglycerate kinase-Uppsala associated with chronic nonspherocytic hemolytic anemia

1 reference

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21 April 2017

Use of cultured lymphoblastoid cells for the study of abnormal enzymes: molecular abnormality of a phosphoglycerate kinase variant associated with hemolytic anemia

1 reference

https://api.crossref.org/works/10.1111/J.1365-2141.2006.06351.X

21 April 2017

Human testis-specific PGK gene lacks introns and possesses characteristics of a processed gene

1 reference

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21 April 2017

Isolation and DNA sequence of a full-length cDNA clone for human X chromosome-encoded phosphoglycerate kinase

1 reference

https://api.crossref.org/works/10.1111/J.1365-2141.2006.06351.X

21 April 2017

Endemic polycythemia in Russia: mutation in the VHL gene.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06351.X

21 January 2018

Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia

1 reference

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21 January 2018

Selectivity of proteases as a basis for tissue distribution of enzymes in hereditary deficiencies

1 reference

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21 January 2018

Existence of only a single functional pool of adenosine triphosphate in human erythrocytes

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06351.X

21 January 2018

Mutation nomenclature: nicknames, systematic names, and unique identifiers

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06351.X

21 January 2018

Genome-wide identification of pseudogenes capable of disease-causing gene conversion.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06351.X

21 January 2018

Phosphoglycerate kinase deficiency: another cause of recurrent myoglobinuria.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06351.X

21 January 2018

Role of phosphate chain mobility of MgATP in completing the 3-phosphoglycerate kinase catalytic site: binding, kinetic, and crystallographic studies with ATP and MgATP.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06351.X

21 January 2018

The identification of a recurrent phosphoglycerate kinase mutation associated with chronic haemolytic anaemia and neurological dysfunction in a family from USA.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06351.X

21 January 2018

Pyruvate kinase deficiency and related disorders of red cell glycolysis

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06351.X

21 January 2018

Molecular basis of neurological dysfunction coupled with haemolytic anaemia in human glucose-6-phosphate isomerase (GPI) deficiency

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06351.X

21 January 2018

A novel missense mutation (1060G --> C) in the phosphoglycerate kinase gene in a Japanese boy with chronic haemolytic anaemia, developmental delay and rhabdomyolysis

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06351.X

21 January 2018

Retarded and aberrant splicings caused by single exon mutation in a phosphoglycerate kinase variant.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06351.X

21 January 2018

The role of membrane phosphoglycerate kinase in the control of glycolytic rate by active cation transport in human red blood cells

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06351.X

21 January 2018

Membrane compartmentalized ATP and its preferential use by the Na,K-ATPase of human red cell ghosts

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06351.X

21 January 2018

Intronic mutation in the PGK1 gene may cause recurrent myoglobinuria by aberrant splicing.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06351.X

21 January 2018

Familial phosphoglycerate kinase deficiency associated with rhabdomyolysis and acute renal failure: abnormality in mRNA splicing?

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06351.X

21 January 2018

A phosphoglycerate kinase mutant (PGK Herlev; D285V) in a Danish patient with isolated chronic hemolytic anemia: mechanism of mutation and structure-function relationships.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06351.X

21 January 2018

Correlation between conformational stability of the ternary enzyme-substrate complex and domain closure of 3-phosphoglycerate kinase.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06351.X

21 January 2018

Molecular abnormality of a phosphoglycerate kinase variant (PGK-Alabama).

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06351.X

21 January 2018

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