Varaico: Literature-Extracted Genetic Variants

Gene:PKLR
Variant:p.I90N
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PKLR

NM_000298.6:p.I90N

Associated Papers

Biphosphoglycerate Mutase: A Novel Therapeutic Target for Malaria?

Azzuolo A et al.

Transfusion Medicine Reviews, 2023

Preclinical studies of efficacy thresholds and tolerability of a clinically ready lentiviral vector for pyruvate kinase deficiency treatment.

Navarro S et al.

Molecular Therapy. Methods & Clinical Development, 2021

Prevalence of pyruvate kinase deficiency: A systematic literature review.

Secrest MH et al.

European Journal of Haematology, 2020

Pyruvate Kinase and Fcγ Receptor Gene Copy Numbers Associated With Malaria Phenotypes.

Faik I et al.

The Journal of Infectious Diseases, 2017

The mouse Char10 locus regulates severity of pyruvate kinase deficiency and susceptibility to malaria.

Laroque A et al.

Plos One, 2017

Safe and Efficient Gene Therapy for Pyruvate Kinase Deficiency.

Garcia-Gomez M et al.

Molecular Therapy : the Journal of the American Society of Gene Therapy, 2016

Modulation of Malaria Phenotypes by Pyruvate Kinase (PKLR) Variants in a Thai Population.

van Bruggen R et al.

Plos One, 2015

N-ethyl-N-nitrosourea-induced mutation in ubiquitin-specific peptidase 18 causes hyperactivation of IFN-αß signaling and suppresses STAT4-induced IFN-γ production, resulting in increased susceptibility to Salmonella typhimurium.

Richer E et al.

Journal of Immunology (baltimore, Md. : 1950), 2010

Mapping of Char10, a novel malaria susceptibility locus on mouse chromosome 9.

Min-Oo G et al.

Genes and Immunity, 2010

Analysis of malaria associated genetic traits in Cabo Verde, a melting pot of European and sub Saharan settlers.

Alves J et al.

Blood Cells, Molecules & Diseases, 2010

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

van Wijk R et al.

Human Mutation, 2009

Complex genetic control of susceptibility to malaria: positional cloning of the Char9 locus.

Min-Oo G et al.

The Journal of Experimental Medicine, 2007

Pyruvate kinase deficiency in mice protects against malaria.

Min-Oo G et al.

Nature Genetics, 2003

Pyruvate kinase deficiency: correlation between enzyme activity, extent of hemolytic anemia and protection against malaria in independent mouse mutants.

Min-Oo G et al.

Blood Cells, Molecules & Diseases, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."