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Page 1
The Power of Human Protective Modifiers: PLS3 and CORO1C Unravel Impaired Endocytosis in Spinal Muscular Atrophy and Rescue SMA Phenotype.
Hosseinibarkooie S, Peters M, Torres-Benito L, Rastetter RH, Hupperich K, Hoffmann A, Mendoza-Ferreira N, Kaczmarek A, Janzen E, Milbradt J, Lamkemeyer T, Rigo F, Bennett CF, Guschlbauer C, Büschges A, Hammerschmidt M, Riessland M, Kye MJ, Clemen CS, Wirth B. Hosseinibarkooie S, et al. Among authors: milbradt j. Am J Hum Genet. 2016 Sep 1;99(3):647-665. doi: 10.1016/j.ajhg.2016.07.014. Epub 2016 Aug 4. Am J Hum Genet. 2016. PMID: 27499521 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: milbradt j. 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
Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function.
Mendoza-Ferreira N, Coutelier M, Janzen E, Hosseinibarkooie S, Löhr H, Schneider S, Milbradt J, Karakaya M, Riessland M, Pichlo C, Torres-Benito L, Singleton A, Zuchner S, Brice A, Durr A, Hammerschmidt M, Stevanin G, Wirth B. Mendoza-Ferreira N, et al. Among authors: milbradt j. Neurol Genet. 2018 Jan 19;4(1):e209. doi: 10.1212/NXG.0000000000000209. eCollection 2018 Feb. Neurol Genet. 2018. PMID: 29379881 Free PMC article.
PLS3 mutations in X-linked osteoporosis with fractures.
van Dijk FS, Zillikens MC, Micha D, Riessland M, Marcelis CL, de Die-Smulders CE, Milbradt J, Franken AA, Harsevoort AJ, Lichtenbelt KD, Pruijs HE, Rubio-Gozalbo ME, Zwertbroek R, Moutaouakil Y, Egthuijsen J, Hammerschmidt M, Bijman R, Semeins CM, Bakker AD, Everts V, Klein-Nulend J, Campos-Obando N, Hofman A, te Meerman GJ, Verkerk AJ, Uitterlinden AG, Maugeri A, Sistermans EA, Waisfisz Q, Meijers-Heijboer H, Wirth B, Simon ME, Pals G. van Dijk FS, et al. Among authors: milbradt j. N Engl J Med. 2013 Oct 17;369(16):1529-36. doi: 10.1056/NEJMoa1308223. Epub 2013 Oct 2. N Engl J Med. 2013. PMID: 24088043 Free article.
Phenotypical Characterization of the Nuclear Egress of Recombinant Cytomegaloviruses Reveals Defective Replication upon ORF-UL50 Deletion but Not pUL50 Phosphosite Mutation.
Häge S, Sonntag E, Svrlanska A, Borst EM, Stilp AC, Horsch D, Müller R, Kropff B, Milbradt J, Stamminger T, Schlötzer-Schrehardt U, Marschall M. Häge S, et al. Among authors: milbradt j. Viruses. 2021 Jan 22;13(2):165. doi: 10.3390/v13020165. Viruses. 2021. PMID: 33499341 Free PMC article.
Phosphosite Analysis of the Cytomegaloviral mRNA Export Factor pUL69 Reveals Serines with Critical Importance for Recruitment of Cellular Proteins Pin1 and UAP56/URH49.
Thomas M, Müller R, Horn G, Bogdanow B, Imami K, Milbradt J, Steingruber M, Marschall M, Schilling EM, Fossen T, Stamminger T. Thomas M, et al. Among authors: milbradt j. J Virol. 2020 Mar 31;94(8):e02151-19. doi: 10.1128/JVI.02151-19. Print 2020 Mar 31. J Virol. 2020. PMID: 31969433 Free PMC article.
Differential upregulation of host cell protein kinases by the replication of α-, β- and γ-herpesviruses provides a signature of virus-specific signalling.
Marschall M, Strojan H, Kiener R, Wangen C, Sonntag E, Müller R, Zeitträger I, Wagner S, Stamminger T, Milbradt J, Behrends U, Körber N, Bauer T, Schrödel S, Thirion C, Wagner R, Hutterer C. Marschall M, et al. Among authors: milbradt j. J Gen Virol. 2020 Mar;101(3):284-289. doi: 10.1099/jgv.0.001370. J Gen Virol. 2020. PMID: 31958050
A viral kinase counteracts in vivo restriction of murine cytomegalovirus by SAMHD1.
Deutschmann J, Schneider A, Gruska I, Vetter B, Thomas D, Kießling M, Wittmann S, Herrmann A, Schindler M, Milbradt J, Ferreirós N, Winkler TH, Wiebusch L, Gramberg T. Deutschmann J, et al. Among authors: milbradt j. Nat Microbiol. 2019 Dec;4(12):2273-2284. doi: 10.1038/s41564-019-0529-z. Epub 2019 Sep 23. Nat Microbiol. 2019. PMID: 31548683
38 results