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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主要な著者:	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
フォーマット:	Artigo
言語:	Inglês
出版事項:	Frontiers Media S.A. 2023-04-01
シリーズ:	Frontiers in Genome Editing
主題:	pyruvate kinase deficiency point mutation ssODN CRISPR/Cas9 precise gene editing allele specificity
オンライン･アクセス:	https://www.frontiersin.org/articles/10.3389/fgeed.2023.1104666/full
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