Article
Genomic integrity and mitochondrial metabolism defects in Warsaw syndrome cells: a comparison with Fanconi anemia.
Journal of cellular physiology - 1 Aug 2021
Bottega Roberta, Ravera Silvia, Napolitano Luisa M R, Chiappetta Viviana, Zini Nicoletta, Crescenzi Barbara, Arniani Silvia, Faleschini Michela, Cortone Giuseppe, Faletra Flavio, Medagli Barbara, Sirchia Fabio, Moretti Martina, de Lange Job, Cappelli Enrico, Mecucci Cristina, Onesti Silvia, Pisani Francesca M, Savoia Anna
Abstract excerpt
Warsaw breakage syndrome (WABS), is caused by biallelic mutations of DDX11, a gene coding a DNA helicase. We have recently reported two affected sisters, compound heterozygous for a missense (p.Leu836Pro) and a frameshift (p.Lys303Glufs*22) variant. By investigating the pathogenic mechanism, we demonstrate the inability of the DDX11 p.Leu836Pro mutant to unwind forked DNA substrates, while retaining DNA binding...
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