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2023 | 1 |
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Functional Characterization of Rare RAB12 Variants and Their Role in Musician's and Other Dystonias.
Genes (Basel). 2017 Oct 18;8(10):276. doi: 10.3390/genes8100276.
Genes (Basel). 2017.
PMID: 29057844
Free PMC article.
Review.
The ability to hydrolyze guanosine triphosphate (GTP), so called GTPase activity, was increased in mutants compared to wildtype. Furthermore, subcellular distribution of RAB12 in mutants was altered in fibroblasts. ...In conclusion, we demonstrate an enrichment of missense …
The ability to hydrolyze guanosine triphosphate (GTP), so called GTPase activity, was increased in mutants compared to wildtype. Furt …
Selective and brain-penetrant HCN1 inhibitors reveal links between synaptic integration, cortical function, and working memory.
Harde E, Hierl M, Weber M, Waiz D, Wyler R, Wach JY, Haab R, Gundlfinger A, He W, Schnider P, Paina M, Rolland JF, Greiter-Wilke A, Gasser R, Reutlinger M, Dupont A, Roberts S, O'Connor EC, Bartels B, Hall BJ.
Harde E, et al.
Cell Chem Biol. 2024 Mar 21;31(3):577-592.e23. doi: 10.1016/j.chembiol.2023.11.004. Epub 2023 Dec 1.
Cell Chem Biol. 2024.
PMID: 38042151
Free article.
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