PUBLICATIONS

SELECTED PAPERS

NOTE: This is the list of the selected papers. Full list of papers at PubMed.gov

Defective metabolic programming impairs early neuronal morphogenesis in patient specific neural cultures and cerebral organoids of Leigh syndrome. Nature Communications 2020 (In press)

Small molecule-based generation of robustly expandable NPCs derived from human iPSCs suitable for high-throughput screenings. Bio-protocol 2020 (In press).

SURF1 mutations causative of Leigh syndrome impair human neurogenesis. bioRxiv 2019. http://dx.doi.org/10.1101/551390

Neurodevelopmental disorder associated with IRF2BPL gene mutation: Expanding the phenotype?. Parkinsonism Related Disorders 2019. doi:10.1016/i.parkreldis.2019.01.017.

Sirtuin 2-mediated deacetylation of cyclin-dependent kinase 9 promotes STAT1 signaling in type I interferon responses. Journal of Biological Chemistry 2019. doi 10.1074/jbc.RA118.005956.

Novel calcineurin A (PPP3CA) mutation associated with epilepsy, constitutive enzyme activation and downregulation of protein expressionEuropean Journal of Human Genetics 2018. doi: 10.1038/s41431-018-0254-8.

Engineering of human induced pluripotent stem cells for precise disease modelingStem Cell Genetics for Biomedical Research. Springer Publishing 2018. ISBN 978-3-319-90695-9.

Mitochondria and the dynamic control of stem cell homeostasisEMBO Reports 2018. doi: 10.15252/embr.201745432.

Gene editing and clonal isolation of human induced pluripotent stem cells using CRISPR/Cas9Methods 2017. doi: 10.1016/j.ymeth.2017.05.009.

Human SLFN5 is a transcriptional co-repressor of STAT1-mediated interferon responses and promotes the malignant phenotype in glioblastomaOncogene 2017. doi: 10.1038/onc.2017.205s.

Induced pluripotent stem cell-based drug discovery for mitochondrial diseaseStem Cells 2017. doi: 10.1002/stem.2637.

Epigenetics of cell fate reprogramming and its implications for neurological disorders modelling.
Neurobiology of Disease. 2016. doi: 10.1016/j.nbd.2016.11.007.

Central role of ULK1 in type I interferon signalingCell Reports. 2015. doi: 10.1016/j.celrep.2015.03.056.