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20 p, 2.3 MB Gene editing of PKLR gene in human hematopoietic progenitors through 5' and 3' UTR modified TALEN mRNA / Quintana-Bustamante, Oscar (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz) ; Fañanas-Baquero, S. (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz) ; Orman, I. (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz) ; Torres, Raul (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ; Duchateau, P. (CELLECTIS) ; Poirot, L. (CELLECTIS) ; Gouble, A. (CELLECTIS) ; Bueren, Juan (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz) ; Segovia, J. C. (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz) ; Universitat Autònoma de Barcelona
Pyruvate Kinase Deficiency (PKD) is a rare erythroid metabolic disease caused by mutations in the PKLR gene, which encodes the erythroid specific Pyruvate Kinase enzyme. Erythrocytes from PKD patients show an energetic imbalance and are susceptible to hemolysis. [...]
2019 - 10.1371/journal.pone.0223775
PloS one, Vol. 14 Núm. 10 (january 2019) , p. e0223775  
Detailed record - Creative Commons

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