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Targeted deletion of the AAA-ATPase Ruvbl1 in mice disrupts ciliary integrity and causes renal disease and hydrocephalus.
Dafinger C, Rinschen MM, Borgal L, Ehrenberg C, Basten SG, Franke M, Höhne M, Rauh M, Göbel H, Bloch W, Wunderlich FT, Peters DJM, Tasche D, Mishra T, Habbig S, Dötsch J, Müller RU, Brüning JC, Persigehl T, Giles RH, Benzing T, Schermer B, Liebau MC. Dafinger C, et al. Among authors: schermer b. Exp Mol Med. 2018 Jun 28;50(6):1-17. doi: 10.1038/s12276-018-0108-z. Exp Mol Med. 2018. PMID: 29959317 Free PMC article.
The von Hippel Lindau tumor suppressor limits longevity.
Müller RU, Fabretti F, Zank S, Burst V, Benzing T, Schermer B. Müller RU, et al. Among authors: schermer b. J Am Soc Nephrol. 2009 Dec;20(12):2513-7. doi: 10.1681/ASN.2009050497. Epub 2009 Sep 24. J Am Soc Nephrol. 2009. PMID: 19797165 Free PMC article.
PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome.
Ebermann I, Phillips JB, Liebau MC, Koenekoop RK, Schermer B, Lopez I, Schäfer E, Roux AF, Dafinger C, Bernd A, Zrenner E, Claustres M, Blanco B, Nürnberg G, Nürnberg P, Ruland R, Westerfield M, Benzing T, Bolz HJ. Ebermann I, et al. Among authors: schermer b. J Clin Invest. 2010 Jun;120(6):1812-23. doi: 10.1172/JCI39715. Epub 2010 May 3. J Clin Invest. 2010. PMID: 20440071 Free PMC article.
Nephrocystin-4 regulates Pyk2-induced tyrosine phosphorylation of nephrocystin-1 to control targeting to monocilia.
Liebau MC, Höpker K, Müller RU, Schmedding I, Zank S, Schairer B, Fabretti F, Höhne M, Bartram MP, Dafinger C, Hackl M, Burst V, Habbig S, Zentgraf H, Blaukat A, Walz G, Benzing T, Schermer B. Liebau MC, et al. Among authors: schermer b. J Biol Chem. 2011 Apr 22;286(16):14237-45. doi: 10.1074/jbc.M110.165464. Epub 2011 Feb 28. J Biol Chem. 2011. PMID: 21357692 Free PMC article.
155 results