The commonly accepted definition of Fanconi anemia (FA) relying on DNA repair deficiency is submitted to a critical review starting from the early reports pointing to mitomycin C bioactivation and to the toxicity mechanisms of diepoxybutane and a group of nitrogen mustards causing DNA crosslinks in FA cells. A critical analysis of the literature prompts revisiting the FA phenotype and crosslinker sensitivity in terms of an oxidative stress (OS) background, redox-related anomalies of FA (FANC) proteins, and mitochondrial dysfunction. This re-appraisal of FA basic defect might lead to innovative approaches both in elucidating FA phenotypes and in clinical management

Fanconi anemia (FA) and crosslinker sensitivity: Re-appraising the origins of FA definition / Pagano, Giovanni; D'Ischia, Marco; Pallardó, Federico V.. - In: PEDIATRIC BLOOD & CANCER. - ISSN 1545-5009. - 62:7(2015), pp. 1137-1143. [10.1002/pbc.25452]

Fanconi anemia (FA) and crosslinker sensitivity: Re-appraising the origins of FA definition

D'ISCHIA, MARCO;
2015

Abstract

The commonly accepted definition of Fanconi anemia (FA) relying on DNA repair deficiency is submitted to a critical review starting from the early reports pointing to mitomycin C bioactivation and to the toxicity mechanisms of diepoxybutane and a group of nitrogen mustards causing DNA crosslinks in FA cells. A critical analysis of the literature prompts revisiting the FA phenotype and crosslinker sensitivity in terms of an oxidative stress (OS) background, redox-related anomalies of FA (FANC) proteins, and mitochondrial dysfunction. This re-appraisal of FA basic defect might lead to innovative approaches both in elucidating FA phenotypes and in clinical management
2015
Fanconi anemia (FA) and crosslinker sensitivity: Re-appraising the origins of FA definition / Pagano, Giovanni; D'Ischia, Marco; Pallardó, Federico V.. - In: PEDIATRIC BLOOD & CANCER. - ISSN 1545-5009. - 62:7(2015), pp. 1137-1143. [10.1002/pbc.25452]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11588/635046
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