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Page 1
Constitutive opening of the Kv7.2 pore activation gate causes KCNQ2-developmental encephalopathy.
Nappi M, Alberini G, Berselli A, Roscioni A, Soldovieri MV, Servettini I, Barrese V, Weckhuysen S, Chiu TA, Scheffer IE, Benfenati F, Maragliano L, Miceli F, Taglialatela M. Nappi M, et al. Among authors: alberini g. Proc Natl Acad Sci U S A. 2024 Dec 3;121(49):e2412388121. doi: 10.1073/pnas.2412388121. Epub 2024 Nov 27. Proc Natl Acad Sci U S A. 2024. PMID: 39602259 Free PMC article.
Correlates of splenic T2* measurements in transfusion-dependent thalassaemia and comparison between non-splenectomised and splenectomised patients.
Meloni A, Pistoia L, Positano V, Spasiano A, Putti MC, Fotzi I, Corigliano E, Cossu A, Massa A, Massei F, Alberini G, Cademartiri F. Meloni A, et al. Among authors: alberini g. Br J Haematol. 2023 Nov;203(3):e93-e97. doi: 10.1111/bjh.19034. Epub 2023 Aug 9. Br J Haematol. 2023. PMID: 37559348 No abstract available.
Missense mutations in the membrane domain of PRRT2 affect its interaction with Nav1.2 voltage-gated sodium channels.
Sterlini B, Franchi F, Morinelli L, Corradi B, Parodi C, Albini M, Bianchi A, Marte A, Baldelli P, Alberini G, Maragliano L, Valente P, Benfenati F, Corradi A. Sterlini B, et al. Among authors: alberini g. Neurobiol Dis. 2023 Jul;183:106177. doi: 10.1016/j.nbd.2023.106177. Epub 2023 Jun 2. Neurobiol Dis. 2023. PMID: 37271286 Free article.
The intramembrane COOH-terminal domain of PRRT2 regulates voltage-dependent Na+ channels.
Franchi F, Marte A, Corradi B, Sterlini B, Alberini G, Romei A, De Fusco A, Vogel A, Maragliano L, Baldelli P, Corradi A, Valente P, Benfenati F. Franchi F, et al. Among authors: alberini g. J Biol Chem. 2023 May;299(5):104632. doi: 10.1016/j.jbc.2023.104632. Epub 2023 Mar 22. J Biol Chem. 2023. PMID: 36958475 Free PMC article.
20 results