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Article

Reticular dysgenesis–associated AK2 protects hematopoietic stem and progenitor cell development from oxidative stress

6 Jul 2015

Abstract excerpt

Adenylate kinases (AKs) are phosphotransferases that regulate the cellular adenine nucleotide composition and play a critical role in the energy homeostasis of all tissues. The AK2 isoenzyme is expressed in the mitochondrial intermembrane space and is mutated in reticular dysgenesis (RD), a rare form of severe combined immunodeficiency (SCID) in humans. RD is characterized by a maturation arrest in the myeloid...

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PMID: 26150473
DOI: 10.1084/jem.20141286

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