Publications

Folate Deficiency Triggers the Abnormal Segregation of a Region With Large Cluster of CG-Rich Trinucleotide Repeats on Human Chromosome 2. Garribba L., Vogel I., Lerdrup M., Gonçalves Dinis M.M., Ren L., Liu Y (2021). Front. Genet. 12, 695124. https://doi.org/10.3389/fgene.2021.695124.

 PDF: https://drive.elettra.eu/f/77c1d1757c4843a59da6/

Francesca M. Pisani is Editor of a Topic for Frontiers in Molecular Biosciences: Helicases: from molecular mechanisms to clinical implications (https://www.frontiersin.org/research-topics/19446/helicases-from-molecular-mechanisms-to-clinical-implications).

Role of the DDX11 DNA helicase in Warsaw breakage syndrome etiology. Santos D., Mahtab M., Boavida A., Pisani F.M (2021). Int. J. Mol. Sci. 22, 2308. https://doi.org/10.3390/ijms22052308.

 PDF: https://drive.elettra.eu/f/01693bfb413945da948d/

The genome stability maintenance DNA helicase DDX11 and its role in cancer. Mahtab M., Boavida A., Santos D., Pisani F.M (2021). Genes 12, 395. https://doi.org/10.3390/genes12030395.

 PDF: https://drive.elettra.eu/f/c1cd99fed01a4e07a038/

Functional coupling between DNA replication and sister chromatid cohesion establishment. Boavida A., Santos D., Mahtab M., Pisani F.M (2021). Int. J. Mol. Sci. 22, 2810. https://doi.org/10.3390/ijms22062810.

 PDF: https://drive.elettra.eu/f/77c1d1757c4843a59da6/

Mitochondrial defect in Warsaw syndrome cells genomic integrity and mitochondrial metabolism defects in Warsaw syndrome cells: A comparison with Fanconi anemia. Bottega R., Ravera S., Napolitano L.M.R., Chiappetta V., Zini N., Crescenzi B., Arniani S., Faleschini M., Cortone G., Faletra F., Medagli B., Sirchia F., Moretti M., de Lange J., Cappelli E., Mecucci C., Onesti S., Pisani F.M., Savoia A.* (2021). J Cell Physiol. Online ahead of print. https://doi.org/10.1002/jcp.30265.

 PDF: https://drive.elettra.eu/f/80604c2170df4f259a92/

RTEL1 suppresses G-quadruplex-associated R-loops at difficult-to-replicate loci in the human genome. Wu W., Bhowmick R., Vogel I., Ă–zer Ă–., Ghisays F., Thakur R.S., Sanchez de Leon E., Richter P.H., Ren L., Petrini J.H., Hickson I.D., Liu Y. (2020). Nat Struct Mol Biol. 27, 424-437. https://doi.org/10.1038/s41594-020-0408-6.

 PDF: https://drive.elettra.eu/f/088e39caa8c440d38772/

Warsaw Breakage Syndrome associated DDX11 helicase resolves G-quadruplex structures to support sister chromatid cohesion. van Schie J.J.M., Faramarz A., Balk J.A., Stewart G.S., Cantelli E., Oostra A.B., Rooimans M.A., Parish J.L., de Almeida Estéves C., Dumic K., Barisic I., Diderich K.E.M., van Slegtenhorst M.A., Mahtab M., Pisani F.M., Te Riele H., Ameziane N., Wolthuis R.M.F., de Lange J. (2020). Nat Commun. 11, 4287. https://doi.org/10.1038/s41467-020-18066-8.

 PDF: https://drive.elettra.eu/f/54b65b6184244f50baa3/

Folate stress induces SLX1- and RAD51-dependent mitotic DNA synthesis at the fragile X locus in human cells. Garribba L., Bjerregaard V.A., Gonçalves Dinis M.M., Özer Ö., Wu W., Sakellariou D., Pena-Diaz J., Hickson I.D., Liu Y. (2020). Proc Natl Acad Sci U S A. 117, 16527-16536. https://doi.org/10.1073/pnas.1921219117.

 PDF: https://drive.elettra.eu/f/de72a36114d84a05b0d7/

Spotlight on Warsaw Breakage Syndrome. Pisani FM (2019). Appl Clin Genet. 12, 239-248. eCollection 2019. https://doi.org/10.2147/TACG.S186476.

 PDF: https://drive.elettra.eu/f/bd95892130a14b2994c4/



Talks




Poster presentations



This project has received funding from the European Union’s Horizon 2020 research and innovation programme under the Marie Skłodowska-Curie grant agreement No 859853