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Purkinje cells derived from TSC patients display hypoexcitability and synaptic deficits associated with reduced FMRP levels and reversed by rapamycin.
Sundberg M, Tochitsky I, Buchholz DE, Winden K, Kujala V, Kapur K, Cataltepe D, Turner D, Han MJ, Woolf CJ, Hatten ME, Sahin M. Sundberg M, et al. Among authors: winden k. Mol Psychiatry. 2018 Nov;23(11):2167-2183. doi: 10.1038/s41380-018-0018-4. Epub 2018 Feb 15. Mol Psychiatry. 2018. PMID: 29449635 Free PMC article.
Abnormal mTOR Activation in Autism.
Winden KD, Ebrahimi-Fakhari D, Sahin M. Winden KD, et al. Annu Rev Neurosci. 2018 Jul 8;41:1-23. doi: 10.1146/annurev-neuro-080317-061747. Epub 2018 Jan 25. Annu Rev Neurosci. 2018. PMID: 29490194 Review.
Subependymal giant cell astrocytomas are characterized by mTORC1 hyperactivation, a very low somatic mutation rate, and a unique gene expression profile.
Giannikou K, Zhu Z, Kim J, Winden KD, Tyburczy ME, Marron D, Parker JS, Hebert Z, Bongaarts A, Taing L, Long HW, Pisano WV, Alexandrescu S, Godlewski B, Nellist M, Kotulska K, Jozwiak S, Roszkowski M, Mandera M, Thiele EA, Lidov H, Getz G, Devinsky O, Lawrence MS, Ligon KL, Ellison DW, Sahin M, Aronica E, Meredith DM, Kwiatkowski DJ. Giannikou K, et al. Among authors: winden kd. Mod Pathol. 2021 Feb;34(2):264-279. doi: 10.1038/s41379-020-00659-9. Epub 2020 Oct 13. Mod Pathol. 2021. PMID: 33051600 Free PMC article.
37 results