(Q46196461)

20 December 2017

title

Fifteen novel mutations in PKLR associated with pyruvate kinase (PK) deficiency: structural implications of amino acid substitutions in PK. (English)

1 reference

20 December 2017

Wouter W van Solinge

6

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author name string

Richard van Wijk

1

1 reference

20 December 2017

Eric G Huizinga

2

1 reference

20 December 2017

Annet C W van Wesel

3

1 reference

20 December 2017

Brigitte A van Oirschot

4

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20 December 2017

Michael A Hadders

5

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20 December 2017

language of work or name

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1 March 2009

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20 December 2017

published in

Human Mutation

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20 December 2017

volume

30

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20 December 2017

issue

3

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20 December 2017

page(s)

446-453

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20 December 2017

Ineffective erythropoiesis in mutant mice with deficient pyruvate kinase activity

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Pyruvate kinase: current status of regulatory and functional properties

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Kinetic and allosteric consequences of mutations in the subunit and domain interfaces and the allosteric site of yeast pyruvate kinase

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Red cell pyruvate kinase deficiency: 17 new mutations of the PK-LR gene

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7 January 2021

Electron-density map interpretation

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cDNA cloning of human R-type pyruvate kinase and identification of a single amino acid substitution (Thr384----Met) affecting enzymatic stability in a pyruvate kinase variant (PK Tokyo) associated with hereditary hemolytic anemia

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7 January 2021

Structural analysis of human pyruvate kinase L-gene and identification of the promoter activity in erythroid cells

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Eight novel mutations and consequences on mRNA and protein level in pyruvate kinase-deficient patients with nonspherocytic hemolytic anemia

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7 January 2021

Structure of rabbit muscle pyruvate kinase complexed with Mn2+, K+, and pyruvate

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7 January 2021

Structure of the bis(Mg2+)-ATP-oxalate complex of the rabbit muscle pyruvate kinase at 2.1 A resolution: ATP binding over a barrel

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7 January 2021

Proteolytic processing of human erythrocyte pyruvate kinase: Study of normal and deficient enzymes

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7 January 2021

Crystal structure of Escherichia coli pyruvate kinase type I: molecular basis of the allosteric transition

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7 January 2021

Pyruvate kinase deficiency in France: a 3-year study reveals 27 new mutations

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7 January 2021

Pyruvate kinase (PK) deficiency in newborns: the pitfalls of diagnosis

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7 January 2021

Pyruvate kinase deficiency associated with severe liver dysfunction in the newborn

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7 January 2021

The structure of pyruvate kinase from Leishmania mexicana reveals details of the allosteric transition and unusual effector specificity

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7 January 2021

Isolation and characterization of the human pyruvate kinase M gene

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The allosteric regulation of pyruvate kinase

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7 January 2021

Structure and function of human erythrocyte pyruvate kinase. Molecular basis of nonspherocytic hemolytic anemia

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7 January 2021

Disruption of a novel regulatory element in the erythroid-specific promoter of the human PKLR gene causes severe pyruvate kinase deficiency

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7 January 2021

Ex vivo analysis of aberrant splicing induced by two donor site mutations in PKLR of a patient with severe pyruvate kinase deficiency

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7 January 2021

Human erythrocyte pyruvate kinase: characterization of the recombinant enzyme and a mutant form (R510Q) causing nonspherocytic hemolytic anemia

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7 January 2021

Structural and functional linkages between subunit interfaces in mammalian pyruvate kinase

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7 January 2021

Red cell pyruvate kinase deficiency: molecular and clinical aspects

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7 January 2021

Identifiers

DOI

10.1002/HUMU.20915

1 reference

20 December 2017

1 reference

20 December 2017