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A mutation in the 5'-UTR of IFITM5 creates an in-frame start codon and causes autosomal-dominant osteogenesis imperfecta type V with hyperplastic callus.
Semler O, Garbes L, Keupp K, Swan D, Zimmermann K, Becker J, Iden S, Wirth B, Eysel P, Koerber F, Schoenau E, Bohlander SK, Wollnik B, Netzer C. Semler O, et al. Among authors: wirth b. Am J Hum Genet. 2012 Aug 10;91(2):349-57. doi: 10.1016/j.ajhg.2012.06.011. Epub 2012 Aug 2. Am J Hum Genet. 2012. PMID: 22863195 Free PMC article.
Plastin 3 ameliorates spinal muscular atrophy via delayed axon pruning and improves neuromuscular junction functionality.
Ackermann B, Kröber S, Torres-Benito L, Borgmann A, Peters M, Hosseini Barkooie SM, Tejero R, Jakubik M, Schreml J, Milbradt J, Wunderlich TF, Riessland M, Tabares L, Wirth B. Ackermann B, et al. Among authors: wirth b. Hum Mol Genet. 2013 Apr 1;22(7):1328-47. doi: 10.1093/hmg/dds540. Epub 2012 Dec 20. Hum Mol Genet. 2013. PMID: 23263861
Plastin 3 influences bone homeostasis through regulation of osteoclast activity.
Neugebauer J, Heilig J, Hosseinibarkooie S, Ross BC, Mendoza-Ferreira N, Nolte F, Peters M, Hölker I, Hupperich K, Tschanz T, Grysko V, Zaucke F, Niehoff A, Wirth B. Neugebauer J, et al. Among authors: wirth b. Hum Mol Genet. 2018 Dec 15;27(24):4249-4262. doi: 10.1093/hmg/ddy318. Hum Mol Genet. 2018. PMID: 30204862
Plastin 3 in health and disease: a matter of balance.
Wolff L, Strathmann EA, Müller I, Mählich D, Veltman C, Niehoff A, Wirth B. Wolff L, et al. Among authors: wirth b. Cell Mol Life Sci. 2021 Jul;78(13):5275-5301. doi: 10.1007/s00018-021-03843-5. Epub 2021 May 23. Cell Mol Life Sci. 2021. PMID: 34023917 Free PMC article. Review.
Mitochondrial Dysfunction in Spinal Muscular Atrophy.
Zilio E, Piano V, Wirth B. Zilio E, et al. Among authors: wirth b. Int J Mol Sci. 2022 Sep 17;23(18):10878. doi: 10.3390/ijms231810878. Int J Mol Sci. 2022. PMID: 36142791 Free PMC article. Review.
Plastin 3 is upregulated in iPSC-derived motoneurons from asymptomatic SMN1-deleted individuals.
Heesen L, Peitz M, Torres-Benito L, Hölker I, Hupperich K, Dobrindt K, Jungverdorben J, Ritzenhofen S, Weykopf B, Eckert D, Hosseini-Barkooie SM, Storbeck M, Fusaki N, Lonigro R, Heller R, Kye MJ, Brüstle O, Wirth B. Heesen L, et al. Among authors: wirth b. Cell Mol Life Sci. 2016 May;73(10):2089-104. doi: 10.1007/s00018-015-2084-y. Epub 2015 Nov 16. Cell Mol Life Sci. 2016. PMID: 26573968 Free PMC article.
358 results