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Common exonic missense variants in the C2 domain of the human KIBRA protein modify lipid binding and cognitive performance.
Duning K, Wennmann DO, Bokemeyer A, Reissner C, Wersching H, Thomas C, Buschert J, Guske K, Franzke V, Flöel A, Lohmann H, Knecht S, Brand SM, Pöter M, Rescher U, Missler M, Seelheim P, Pröpper C, Boeckers TM, Makuch L, Huganir R, Weide T, Brand E, Pavenstädt H, Kremerskothen J. Duning K, et al. Among authors: rescher u. Transl Psychiatry. 2013 Jun 18;3(6):e272. doi: 10.1038/tp.2013.49. Transl Psychiatry. 2013. PMID: 23778582 Free PMC article.
Cellular vacuolization caused by overexpression of the PIKfyve-binding deficient Vac14L156R is rescued by starvation and inhibition of vacuolar-ATPase.
Schulze U, Vollenbröker B, Kühnl A, Granado D, Bayraktar S, Rescher U, Pavenstädt H, Weide T. Schulze U, et al. Among authors: rescher u. Biochim Biophys Acta Mol Cell Res. 2017 May;1864(5):749-759. doi: 10.1016/j.bbamcr.2017.02.012. Epub 2017 Feb 16. Biochim Biophys Acta Mol Cell Res. 2017. PMID: 28216340 Free article.
Disruption of the Rab7-Dependent Final Common Pathway of Endosomal and Autophagic Processing Results in a Severe Podocytopathy.
Vöing K, Michgehl U, Mertens ND, Picciotto C, Maywald ML, Goretzko J, Waimann S, Gilhaus K, Rogg M, Schell C, Klingauf J, Tsytsyura Y, Hansen U, van Marck V, Edinger AL, Vollenbröker B, Rescher U, Braun DA, George B, Weide T, Pavenstädt H. Vöing K, et al. Among authors: rescher u. J Am Soc Nephrol. 2023 Jul 1;34(7):1191-1206. doi: 10.1681/ASN.0000000000000126. Epub 2023 Apr 5. J Am Soc Nephrol. 2023. PMID: 37022133
80 results