PUBLICATIONS

SELECTED PAPERS

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

Generation of an induced pluripotent stem cell line from a Huntington’s disease patient with a long HTT-PolyQ sequence. Lab Resource: Single Cell Line, Stem Cell Reports 2023, https://doi.org/10.1016/j.scr.2023.103056

Mechanisms of IRF2BPL-related Disorders and Identification of a Potential Therapeutic Strategy. Cell Reports 41, 111751 2022 https://doi.org/10.1016/j.celrep.2022.111751

Generation of induced pluripotent stem cells from three patients with Huntington`s Disease. Lab Resource: Multiple Cell Lines, Stem Cell Reports 2022, https://doi.org/10.1016/j.scr.2022.102976

Defective metabolic programming impairs early neuronal morphogenesis in patient specific neural cultures and cerebral organoids of Leigh syndrome. Nat Commun. 2021 Mar 26;12(1):1929. doi: 10.1038/s41467-021-22117-z.

Small molecule-based generation of robustly expandable NPCs derived from human iPSCs suitable for high-throughput screenings. Bio Protoc. 2021 Mar 5;11(5):e3939. doi: 10.21769/BioProtoc.3939. eCollection 2021 Mar 5.

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 May;62:239-241. doi: 10.1016/j.parkreldis.2019.01.017. Epub 2019 Jan 24.

Sirtuin 2-mediated deacetylation of cyclin-dependent kinase 9 promotes STAT1 signaling in type I interferon responses. J Biol Chem. 2019 Jan 18;294(3):827-837. doi: 10.1074/jbc.RA118.005956. Epub 2018 Nov 28.

Novel calcineurin A (PPP3CA) mutation associated with epilepsy, constitutive enzyme activation and downregulation of protein expression. Eur J Hum Genet. 2019 Jan;27(1):61-69. doi: 10.1038/s41431-018-0254-8. Epub 2018 Sep 25. PMID: 30254215

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

Mitochondria and the dynamic control of stem cell homeostasis. EMBO Rep. 2018 May;19(5):e45432. doi: 10.15252/embr.201745432. Epub 2018 Apr 16.

Gene editing and clonal isolation of human induced pluripotent stem cells using CRISPR/Cas9. Methods. 2017 May 15;121-122:29-44. doi: 10.1016/j.ymeth.2017.05.009. Epub 2017 May 15.

Human SLFN5 is a transcriptional co-repressor of STAT1-mediated interferon responses and promotes the malignant phenotype in glioblastoma. Oncogene. 2017 Oct 26;36(43):6006-6019. doi: 10.1038/onc.2017.205. Epub 2017 Jul 3.

Induced pluripotent stem cell-based drug discovery for mitochondrial disease. Stem Cells. 2017 Jul;35(7):1655-1662. doi: 10.1002/stem.2637. Epub 2017 May 22.

Epigenetics of cell fate reprogramming and its implications for neurological disorders modelling.
Neurobiol Dis. 2017 Mar;99:84-120. doi: 10.1016/j.nbd.2016.11.007. Epub 2016 Nov 23.

Central role of ULK1 in type I interferon signaling. Cell Rep. 2015 Apr 28;11(4):605-17. doi: 10.1016/j.celrep.2015.03.056. Epub 2015 Apr 16.