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Page 1
BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy.
Donkervoort S, Krause N, Dergai M, Yun P, Koliwer J, Gorokhova S, Geist Hauserman J, Cummings BB, Hu Y, Smith R, Uapinyoying P, Ganesh VS, Ghosh PS, Monaghan KG, Edassery SL, Ferle PE, Silverstein S, Chao KR, Snyder M, Ellingwood S, Bharucha-Goebel D, Iannaccone ST, Dal Peraro M, Foley AR, Savas JN, Bolduc V, Fasshauer D, Bönnemann CG, Schwake M. Donkervoort S, et al. Among authors: dergai m. EMBO Mol Med. 2021 Dec 7;13(12):e13787. doi: 10.15252/emmm.202013787. Epub 2021 Nov 15. EMBO Mol Med. 2021. PMID: 34779586 Free PMC article.
Functional assays for the assessment of the pathogenicity of variants of GOSR2, an ER-to-Golgi SNARE involved in progressive myoclonus epilepsies.
Völker JM, Dergai M, Abriata LA, Mingard Y, Ysselstein D, Krainc D, Dal Peraro M, Fischer von Mollard G, Fasshauer D, Koliwer J, Schwake M. Völker JM, et al. Among authors: dergai m. Dis Model Mech. 2017 Dec 19;10(12):1391-1398. doi: 10.1242/dmm.029132. Dis Model Mech. 2017. PMID: 28982678 Free PMC article.
A conformational switch driven by phosphorylation regulates the activity of the evolutionarily conserved SNARE Ykt6.
McGrath K, Agarwal S, Tonelli M, Dergai M, Gaeta AL, Shum AK, Lacoste J, Zhang Y, Wen W, Chung D, Wiersum G, Shevade A, Zaichick S, van Rossum DB, Shuvalova L, Savas JN, Kuchin S, Taipale M, Caldwell KA, Caldwell GA, Fasshauer D, Caraveo G. McGrath K, et al. Among authors: dergai m. Proc Natl Acad Sci U S A. 2021 Mar 23;118(12):e2016730118. doi: 10.1073/pnas.2016730118. Proc Natl Acad Sci U S A. 2021. PMID: 33723042 Free PMC article.
Intersectin 1 forms complexes with SGIP1 and Reps1 in clathrin-coated pits.
Dergai O, Novokhatska O, Dergai M, Skrypkina I, Tsyba L, Moreau J, Rynditch A. Dergai O, et al. Among authors: dergai m. Biochem Biophys Res Commun. 2010 Nov 12;402(2):408-13. doi: 10.1016/j.bbrc.2010.10.045. Epub 2010 Oct 12. Biochem Biophys Res Commun. 2010. PMID: 20946875
15 results