AK2 deficiency compromises the mitochondrial energy metabolism required for differentiation of human neutrophil and lymphoid lineages

Reticular dysgenesis is a human severe combined immunodeficiency that is primarily characterized by profound neutropenia and lymphopenia. The condition is caused by mutations in the adenylate kinase 2 (AK2) gene, resulting in the loss of mitochondrial AK2 protein expression. AK2 regulates the homeos...

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Detalles Bibliográficos
Autores principales: Six, E, Lagresle-Peyrou, C, Susini, S, De Chappedelaine, C, Sigrist, N, Sadek, H, Chouteau, M, Cagnard, N, Fontenay, M, Hermine, O, Chomienne, C, Reynier, P, Fischer, A, André-Schmutz, I, Gueguen, N, Cavazzana, M
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2015
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4558504/
https://www.ncbi.nlm.nih.gov/pubmed/26270350
http://dx.doi.org/10.1038/cddis.2015.211

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4558504/
https://www.ncbi.nlm.nih.gov/pubmed/26270350
http://dx.doi.org/10.1038/cddis.2015.211

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