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Mitochondrial HER2 stimulates respiration and promotes tumorigenicity.
Novotna E, Milosevic M, Prukova D, Magalhaes-Novais S, Dvorakova S, Dmytruk K, Gemperle J, Zudova D, Nickl T, Vrbacky M, Rosel D, Filimonenko V, Prochazka J, Brabek J, Neuzil J, Rohlenova K, Rohlena J. Novotna E, et al. Among authors: nickl t. Eur J Clin Invest. 2024 Jun;54(6):e14174. doi: 10.1111/eci.14174. Epub 2024 Jan 30. Eur J Clin Invest. 2024. PMID: 38291340
A novel pathogenic SLC12A5 missense variant in epilepsy of infancy with migrating focal seizures causes impaired KCC2 chloride extrusion.
Järvelä V, Hamze M, Komulainen-Ebrahim J, Rahikkala E, Piispala J, Kallio M, Kangas SM, Nickl T, Huttula M, Hinttala R, Uusimaa J, Medina I, Immonen EV. Järvelä V, et al. Among authors: nickl t. Front Mol Neurosci. 2024 Apr 10;17:1372662. doi: 10.3389/fnmol.2024.1372662. eCollection 2024. Front Mol Neurosci. 2024. PMID: 38660387 Free PMC article.