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Page 1
ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizures.
Poggio E, Barazzuol L, Salmaso A, Milani C, Deligiannopoulou A, Cazorla ÁG, Jang SS, Juliá-Palacios N, Keren B, Kopajtich R, Lynch SA, Mignot C, Moorwood C, Neuhofer C, Nigro V, Oostra A, Prokisch H, Saillour V, Schuermans N, Torella A, Verloo P, Yazbeck E, Zollino M, Jech R, Winkelmann J, Necpal J, Calì T, Brini M, Zech M. Poggio E, et al. Among authors: salmaso a. Genet Med. 2023 Dec;25(12):100971. doi: 10.1016/j.gim.2023.100971. Epub 2023 Sep 4. Genet Med. 2023. PMID: 37675773
The ataxia-linked E1081Q mutation affects the sub-plasma membrane Ca2+-microdomains by tuning PMCA3 activity.
Vallese F, Maso L, Giamogante F, Poggio E, Barazzuol L, Salmaso A, Lopreiato R, Cendron L, Navazio L, Zanni G, Weber Y, Kovacevic-Preradovic T, Keren B, Torraco A, Carrozzo R, Peretto F, Peggion C, Ferro S, Marin O, Zanotti G, Calì T, Brini M, Carafoli E. Vallese F, et al. Among authors: salmaso a. Cell Death Dis. 2022 Oct 7;13(10):855. doi: 10.1038/s41419-022-05300-y. Cell Death Dis. 2022. PMID: 36207321 Free PMC article.
Multiple Mechanisms Converging on Transcription Factor EB Activation by the Natural Phenol Pterostilbene.
La Spina M, Azzolini M, Salmaso A, Parrasia S, Galletta E, Schiavone M, Chrisam M, Mattarei A, Di Benedetto G, Ballabio A, Tiso N, Zoratti M, Biasutto L. La Spina M, et al. Among authors: salmaso a. Oxid Med Cell Longev. 2021 Dec 28;2021:7658501. doi: 10.1155/2021/7658501. eCollection 2021. Oxid Med Cell Longev. 2021. PMID: 34992716 Free PMC article.
14 results