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WD40-repeat 47, a microtubule-associated protein, is essential for brain development and autophagy.
Kannan M, Bayam E, Wagner C, Rinaldi B, Kretz PF, Tilly P, Roos M, McGillewie L, Bär S, Minocha S, Chevalier C, Po C; Sanger Mouse Genetics Project; Chelly J, Mandel JL, Borgatti R, Piton A, Kinnear C, Loos B, Adams DJ, Hérault Y, Collins SC, Friant S, Godin JD, Yalcin B. Kannan M, et al. Among authors: friant s. Proc Natl Acad Sci U S A. 2017 Oct 31;114(44):E9308-E9317. doi: 10.1073/pnas.1713625114. Epub 2017 Oct 12. Proc Natl Acad Sci U S A. 2017. PMID: 29078390 Free PMC article.
Membrane trafficking in the yeast Saccharomyces cerevisiae model.
Feyder S, De Craene JO, Bär S, Bertazzi DL, Friant S. Feyder S, et al. Among authors: friant s. Int J Mol Sci. 2015 Jan 9;16(1):1509-25. doi: 10.3390/ijms16011509. Int J Mol Sci. 2015. PMID: 25584613 Free PMC article. Review.
Mutations in KARS cause a severe neurological and neurosensory disease with optic neuropathy.
Scheidecker S, Bär S, Stoetzel C, Geoffroy V, Lannes B, Rinaldi B, Fischer F, Becker HD, Pelletier V, Pagan C, Acquaviva-Bourdain C, Kremer S, Mirande M, Tranchant C, Muller J, Friant S, Dollfus H. Scheidecker S, et al. Among authors: friant s. Hum Mutat. 2019 Oct;40(10):1826-1840. doi: 10.1002/humu.23799. Epub 2019 Jun 18. Hum Mutat. 2019. PMID: 31116475 Free article.
Cex1 is a component of the COPI intracellular trafficking machinery.
Enkler L, Rinaldi B, de Craene JO, Hammann P, Nureki O, Senger B, Friant S, Becker HD. Enkler L, et al. Among authors: friant s. Biol Open. 2021 Mar 22;10(3):bio058528. doi: 10.1242/bio.058528. Biol Open. 2021. PMID: 33753324 Free PMC article.
66 results