Associated Papers
Specific correction of pyruvate kinase deficiency-causing point mutations by CRISPR/Cas9 and single-stranded oligodeoxynucleotides.
Fañanas-Baquero S et al.
Frontiers in Genome Editing, 2023
Clinically relevant gene editing in hematopoietic stem cells for the treatment of pyruvate kinase deficiency.
Fañanas-Baquero S et al.
Molecular Therapy. Methods & Clinical Development, 2021
34485608 (PubMed )
Supplement: mmc1.pdf
AG-348 enhances pyruvate kinase activity in red blood cells from patients with pyruvate kinase deficiency.
Kung C et al.
Blood, 2017
Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.
Garate Z et al.
Stem Cell Reports, 2015
Pyruvate kinase deficiency in France: a 3-year study reveals 27 new mutations.
Pissard S et al.
British Journal of Haematology, 2006
Mining for allosteric information: natural mutations and positional sequence conservation in pyruvate kinase.
Pendergrass DC et al.
Iubmb Life, 2006
Structure and function of human erythrocyte pyruvate kinase. Molecular basis of nonspherocytic hemolytic anemia.
Valentini G et al.
The Journal of Biological Chemistry, 2002
Molecular modelling of human red blood cell pyruvate kinase: structural implications of a novel G1091 to a mutation causing severe nonspherocytic hemolytic anemia.
van Solinge WW et al.
Blood, 1997
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