Proton-induced membrane fusion role of phospholipid composition and protein-mediated intermembrane contact

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Abstract

Reticular dysgenesis (RD) is a rare form of severe combined immunodeficiency (SCID). The underlying genetic defect for most cases of RD was recently identified in the gene encoding adenylate kinase 2 (AK2). However, rare patients with RD and no mutations in AK2 exist, suggesting that mutations in other genes may also cause RD. Although rare, RD has a devastating presentation involving severe neutropenia and T cell lymphopenia, in addition to life non-threatening, but still disabling sensori-neural deafness. An identical phenotype is observed in mice deficient for growth factor independence-1 (Gfi-1) or transgenic for Gfi-1b, related nucleoproteins with opposing, antagonizing roles in development. We hypothesize that a genetically based, altered functional balance between these two factors may be an alternative cause of RD. © 2009 Elsevier Ltd.

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Bondeson, J., Wijkander, J., & Sundler, R. (1984). Proton-induced membrane fusion role of phospholipid composition and protein-mediated intermembrane contact. BBA - Biomembranes, 777(1), 21–27. https://doi.org/10.1016/j.mehy.2009.09.053

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