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

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.

journal_name

Pediatr Blood Cancer

journal_title

Pediatric blood & cancer

authors

Pagano G,d'Ischia M,Pallardó FV

doi

10.1002/pbc.25452

subject

Has Abstract

pub_date

2015-07-01 00:00:00

pages

1137-43

issue

7

eissn

1545-5009

issn

1545-5017

journal_volume

62

pub_type

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