PUBLICATIONS

SELECTED PAPERS

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

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 Relat Disord 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. J Biol Chem 2019. doi 10.1074/jbc.RA118.005956.

Novel calcineurin A (PPP3CA) mutation associated with epilepsy, constitutive enzyme activation and downregulation of protein expressionEur J Human Genet 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.