Rescue of pyruvate kinase deficiency in mice by gene therapy using the human isoenzyme (Q33622730)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19755962%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

title

Rescue of pyruvate kinase deficiency in mice by gene therapy using the human isoenzyme (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19755962%20AND%20SRC:MED&resulttype=core&format=json

pyruvate kinase deficiency

7 February 2020

main subject

gene therapy

0 references

1 reference

8

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7 February 2020

Jose Carlos Segovia

9

1 reference

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7 February 2020

author name string

Nestor W Meza

1

1 reference

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7 February 2020

Maria E Alonso-Ferrero

2

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7 February 2020

Susana Navarro

3

1 reference

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7 February 2020

Oscar Quintana-Bustamante

4

1 reference

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7 February 2020

Antonio Valeri

5

1 reference

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7 February 2020

Maria Garcia-Gomez

6

1 reference

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7 February 2020

Juan A Bueren

7

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7 February 2020

publication date

15 September 2009

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7 February 2020

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7 February 2020

volume

17

1 reference

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7 February 2020

page(s)

2000-2009

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7 February 2020

issue

12

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Perinatal stem-cell and gene therapy for hemoglobinopathies

7 February 2020

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21 June 2018

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Functional analysis of gammaretroviral vector transduction by quantitative PCR.

21 June 2018

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21 June 2018

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Regulation of rat hepatic L-pyruvate kinase promoter composition and activity by glucose, n-3 polyunsaturated fatty acids, and peroxisome proliferator-activated receptor-alpha agonist

21 June 2018

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21 June 2018

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Pyruvate kinase deficiency in mice protects against malaria

21 June 2018

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LMO2-associated clonal T cell proliferation in two patients after gene therapy for SCID-X1

21 June 2018

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Gene therapy of a mouse model of protoporphyria with a self-inactivating erythroid-specific lentiviral vector without preselection.

21 June 2018

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Severe canine hereditary hemolytic anemia treated by nonmyeloablative marrow transplantation

21 June 2018

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Design of 5' untranslated sequences in retroviral vectors developed for medical use.

21 June 2018

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Frame shift mutation, exon skipping, and a two-codon deletion caused by splice site mutations account for pyruvate kinase deficiency.

21 June 2018

1 reference

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Red cell enzymopathies as a model of inborn errors of metabolism.

21 June 2018

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Molecular basis of erythroenzymopathies associated with hereditary hemolytic anemia: tabulation of mutant enzymes

21 June 2018

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Molecular basis of impaired pyruvate kinase isozyme conversion in erythroid cells: a single amino acid substitution near the active site and decreased mRNA content of the R-type PK.

21 June 2018

1 reference

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21 June 2018

Evolution of glycolysis

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Concise review: pyruvate kinase deficiency: historical perspective and recent progress of molecular genetics

21 June 2018

1 reference

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Fetal anaemia due to pyruvate kinase deficiency

21 June 2018

1 reference

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Fetal liver biopsy for prenatal diagnosis of carbamoyl phosphate synthetase deficiency

21 June 2018

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Retrovirus-mediated gene transfer of human pyruvate kinase (PK) cDNA into murine hematopoietic cells: implications for gene therapy of human PK deficiency

21 June 2018

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The inhibition of pyruvate kinase by ATP

21 June 2018

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The prenatal determination of glucose-6-phosphatase activity by fetal liver biopsy

21 June 2018

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21 June 2018

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Isolation and characterization of the human pyruvate kinase M gene

21 June 2018

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Gene therapy for immunodeficiency due to adenosine deaminase deficiency.

21 June 2018

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Transgenic rescue of hemolytic anemia due to red blood cell pyruvate kinase deficiency.

30 October 2018

1 reference

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In vitro and in vivo expression of human erythrocyte pyruvate kinase in erythroid cells: a gene therapy approach.

30 October 2018

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Characteristics of lentiviral vectors harboring the proximal promoter of the vav proto-oncogene: a weak and efficient promoter for gene therapy

30 October 2018

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30 October 2018

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30 October 2018

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Life-threatening nonspherocytic hemolytic anemia in a patient with a null mutation in the PKLR gene and no compensatory PKM gene expression

30 October 2018

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30 October 2018

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30 October 2018

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Modulating erythrocyte chimerism in a mouse model of pyruvate kinase deficiency

30 October 2018

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

30 October 2018

1 reference

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

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2814388

Hematologically important mutations: red cell pyruvate kinase (Third update).

30 October 2018

1 reference

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Molecular analysis of 29 pyruvate kinase-deficient patients from central Europe with hereditary hemolytic anemia.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2814388

Estimating the prevalence of pyruvate kinase deficiency from the gene frequency in the general white population

30 October 2018

1 reference

12 December 2020

Successful bone marrow transplantation in a child with red blood cell pyruvate kinase deficiency

1 reference

12 December 2020

Gene therapy for the hemoglobin disorders

1 reference

12 December 2020

Pyruvate kinase deficiency

1 reference

12 December 2020

Real-Time PCR: an Effective Tool for Measuring Transduction Efficiency in Human Hematopoietic Progenitor Cells

1 reference

12 December 2020

Seven pyruvate kinase variants characterized by the ICSH recommended methods

1 reference

12 December 2020

Pyruvate kinase deficiency of mice associated with nonspherocytic hemolytic anemia and cure of the anemia by marrow transplantation without host irradiation

1 reference

12 December 2020

Identifiers

DOI

10.1038/MT.2009.200

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19755962%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19755962%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

1 reference