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MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity.
Müller T, Hess MW, Schiefermeier N, Pfaller K, Ebner HL, Heinz-Erian P, Ponstingl H, Partsch J, Röllinghoff B, Köhler H, Berger T, Lenhartz H, Schlenck B, Houwen RJ, Taylor CJ, Zoller H, Lechner S, Goulet O, Utermann G, Ruemmele FM, Huber LA, Janecke AR. Müller T, et al. Among authors: pfaller k. Nat Genet. 2008 Oct;40(10):1163-5. doi: 10.1038/ng.225. Epub 2008 Aug 24. Nat Genet. 2008. PMID: 18724368
Loss of syntaxin 3 causes variant microvillus inclusion disease.
Wiegerinck CL, Janecke AR, Schneeberger K, Vogel GF, van Haaften-Visser DY, Escher JC, Adam R, Thöni CE, Pfaller K, Jordan AJ, Weis CA, Nijman IJ, Monroe GR, van Hasselt PM, Cutz E, Klumperman J, Clevers H, Nieuwenhuis EE, Houwen RH, van Haaften G, Hess MW, Huber LA, Stapelbroek JM, Müller T, Middendorp S. Wiegerinck CL, et al. Among authors: pfaller k. Gastroenterology. 2014 Jul;147(1):65-68.e10. doi: 10.1053/j.gastro.2014.04.002. Epub 2014 Apr 12. Gastroenterology. 2014. PMID: 24726755
Towards understanding microvillus inclusion disease.
Vogel GF, Hess MW, Pfaller K, Huber LA, Janecke AR, Müller T. Vogel GF, et al. Among authors: pfaller k. Mol Cell Pediatr. 2016 Dec;3(1):3. doi: 10.1186/s40348-016-0031-0. Epub 2016 Jan 29. Mol Cell Pediatr. 2016. PMID: 26830108 Free PMC article.
Loss-of-function of MYO5B is the main cause of microvillus inclusion disease: 15 novel mutations and a CaCo-2 RNAi cell model.
Ruemmele FM, Müller T, Schiefermeier N, Ebner HL, Lechner S, Pfaller K, Thöni CE, Goulet O, Lacaille F, Schmitz J, Colomb V, Sauvat F, Revillon Y, Canioni D, Brousse N, de Saint-Basile G, Lefebvre J, Heinz-Erian P, Enninger A, Utermann G, Hess MW, Janecke AR, Huber LA. Ruemmele FM, et al. Among authors: pfaller k. Hum Mutat. 2010 May;31(5):544-51. doi: 10.1002/humu.21224. Hum Mutat. 2010. PMID: 20186687
The SZT2 Interactome Unravels New Functions of the KICSTOR Complex.
Cattelani C, Lesiak D, Liebscher G, Singer II, Stasyk T, Wallnöfer MH, Heberle AM, Corti C, Hess MW, Pfaller K, Kwiatkowski M, Pramstaller PP, Hicks AA, Thedieck K, Müller T, Huber LA, Eca Guimaraes de Araujo M. Cattelani C, et al. Among authors: pfaller k. Cells. 2021 Oct 9;10(10):2711. doi: 10.3390/cells10102711. Cells. 2021. PMID: 34685691 Free PMC article.
114 results