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β-Glucocerebrosidase Modulators Promote Dimerization of β-Glucocerebrosidase and Reveal an Allosteric Binding Site.
Zheng J, Chen L, Skinner OS, Ysselstein D, Remis J, Lansbury P, Skerlj R, Mrosek M, Heunisch U, Krapp S, Charrow J, Schwake M, Kelleher NL, Silverman RB, Krainc D. Zheng J, et al. Among authors: schwake m. J Am Chem Soc. 2018 May 9;140(18):5914-5924. doi: 10.1021/jacs.7b13003. Epub 2018 Apr 30. J Am Chem Soc. 2018. PMID: 29676907 Free PMC article.
LIMP-2 expression is critical for β-glucocerebrosidase activity and α-synuclein clearance.
Rothaug M, Zunke F, Mazzulli JR, Schweizer M, Altmeppen H, Lüllmann-Rauch R, Kallemeijn WW, Gaspar P, Aerts JM, Glatzel M, Saftig P, Krainc D, Schwake M, Blanz J. Rothaug M, et al. Among authors: schwake m. Proc Natl Acad Sci U S A. 2014 Oct 28;111(43):15573-8. doi: 10.1073/pnas.1405700111. Epub 2014 Oct 14. Proc Natl Acad Sci U S A. 2014. PMID: 25316793 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: schwake 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.
Biallelic variants in TSPOAP1, encoding the active-zone protein RIMBP1, cause autosomal recessive dystonia.
Mencacci NE, Brockmann MM, Dai J, Pajusalu S, Atasu B, Campos J, Pino G, Gonzalez-Latapi P, Patzke C, Schwake M, Tucci A, Pittman A, Simon-Sanchez J, Carvill GL, Balint B, Wiethoff S, Warner TT, Papandreou A, Soo A, Rein R, Kadastik-Eerme L, Puusepp S, Reinson K, Tomberg T, Hanagasi H, Gasser T, Bhatia KP, Kurian MA, Lohmann E, Õunap K, Rosenmund C, Südhof TC, Wood NW, Krainc D, Acuna C. Mencacci NE, et al. Among authors: schwake m. J Clin Invest. 2021 Apr 1;131(7):e140625. doi: 10.1172/JCI140625. J Clin Invest. 2021. PMID: 33539324 Free PMC article.
109 results