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SHANK3 deficiency leads to myelin defects in the central and peripheral nervous system.
Malara M, Lutz AK, Incearap B, Bauer HF, Cursano S, Volbracht K, Lerner JJ, Pandey R, Delling JP, Ioannidis V, Arévalo AP, von Bernhardi JE, Schön M, Bockmann J, Dimou L, Boeckers TM. Malara M, et al. Among authors: ioannidis v. Cell Mol Life Sci. 2022 Jun 20;79(7):371. doi: 10.1007/s00018-022-04400-4. Cell Mol Life Sci. 2022. PMID: 35726031 Free PMC article.
Synaptic disruption and CREB-regulated transcription are restored by K+ channel blockers in ALS.
Catanese A, Rajkumar S, Sommer D, Freisem D, Wirth A, Aly A, Massa-López D, Olivieri A, Torelli F, Ioannidis V, Lipecka J, Guerrera IC, Zytnicki D, Ludolph A, Kabashi E, Mulaw MA, Roselli F, Böckers TM. Catanese A, et al. Among authors: ioannidis v. EMBO Mol Med. 2021 Jul 7;13(7):e13131. doi: 10.15252/emmm.202013131. Epub 2021 Jun 14. EMBO Mol Med. 2021. PMID: 34125498 Free PMC article.
Autism-associated SHANK3 mutations impair maturation of neuromuscular junctions and striated muscles.
Lutz AK, Pfaender S, Incearap B, Ioannidis V, Ottonelli I, Föhr KJ, Cammerer J, Zoller M, Higelin J, Giona F, Stetter M, Stoecker N, Alami NO, Schön M, Orth M, Liebau S, Barbi G, Grabrucker AM, Delorme R, Fauler M, Mayer B, Jesse S, Roselli F, Ludolph AC, Bourgeron T, Verpelli C, Demestre M, Boeckers TM. Lutz AK, et al. Among authors: ioannidis v. Sci Transl Med. 2020 Jun 10;12(547):eaaz3267. doi: 10.1126/scitranslmed.aaz3267. Sci Transl Med. 2020. PMID: 32522805