Specific correction of pyruvate kinase deficiency-causing point mutations by CRISPR/Cas9 and single-stranded oligodeoxynucleotides

Specific correction of pyruvate kinase deficiency-causing point mutations by CRISPR/Cas9 and single-stranded oligodeoxynucleotides

Pyruvate kinase deficiency (PKD) is an autosomal recessive disorder caused by mutations in the PKLR gene. PKD-erythroid cells suffer from an energy imbalance caused by a reduction of erythroid pyruvate kinase (RPK) enzyme activity. PKD is associated with reticulocytosis, splenomegaly and iron overlo...

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Bibliographic Details
Main Authors: Sara Fañanas-Baquero, Matías Morín, Sergio Fernández, Isabel Ojeda-Perez, Mercedes Dessy-Rodriguez, Miruna Giurgiu, Juan A. Bueren, Miguel Angel Moreno-Pelayo, Jose Carlos Segovia, Oscar Quintana-Bustamante
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-04-01
Series:Frontiers in Genome Editing
Subjects:
pyruvate kinase deficiency
point mutation
ssODN
CRISPR/Cas9
precise gene editing
allele specificity
Online Access:https://www.frontiersin.org/articles/10.3389/fgeed.2023.1104666/full

Internet

https://www.frontiersin.org/articles/10.3389/fgeed.2023.1104666/full

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