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163 results

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Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome.
Windpassinger C, Auer-Grumbach M, Irobi J, Patel H, Petek E, Hörl G, Malli R, Reed JA, Dierick I, Verpoorten N, Warner TT, Proukakis C, Van den Bergh P, Verellen C, Van Maldergem L, Merlini L, De Jonghe P, Timmerman V, Crosby AH, Wagner K. Windpassinger C, et al. Among authors: malli r. Nat Genet. 2004 Mar;36(3):271-6. doi: 10.1038/ng1313. Epub 2004 Feb 22. Nat Genet. 2004. PMID: 14981520
Light Stimulation of Neurons on Organic Photocapacitors Induces Action Potentials with Millisecond Precision.
Schmidt T, Jakešová M, Đerek V, Kornmueller K, Tiapko O, Bischof H, Burgstaller S, Waldherr L, Nowakowska M, Baumgartner C, Üçal M, Leitinger G, Scheruebel S, Patz S, Malli R, Głowacki ED, Rienmüller T, Schindl R. Schmidt T, et al. Among authors: malli r. Adv Mater Technol. 2022 Sep;7(9):2101159. doi: 10.1002/admt.202101159. Epub 2022 Mar 18. Adv Mater Technol. 2022. PMID: 37064760 Free PMC article.
Nitric Oxide Sensing by a Blue Fluorescent Protein.
Montali C, Abbruzzetti S, Franzen A, Casini G, Bruno S, Delcanale P, Burgstaller S, Ramadani-Muja J, Malli R, Gensch T, Viappiani C. Montali C, et al. Among authors: malli r. Antioxidants (Basel). 2022 Nov 11;11(11):2229. doi: 10.3390/antiox11112229. Antioxidants (Basel). 2022. PMID: 36421416 Free PMC article.
Sequential synthesis and methylation of phosphatidylethanolamine promote lipid droplet biosynthesis and stability in tissue culture and in vivo.
Hörl G, Wagner A, Cole LK, Malli R, Reicher H, Kotzbeck P, Köfeler H, Höfler G, Frank S, Bogner-Strauss JG, Sattler W, Vance DE, Steyrer E. Hörl G, et al. Among authors: malli r. J Biol Chem. 2011 May 13;286(19):17338-50. doi: 10.1074/jbc.M111.234534. Epub 2011 Mar 22. J Biol Chem. 2011. PMID: 21454708 Free PMC article.
Characterization of rat serum amyloid A4 (SAA4): a novel member of the SAA superfamily.
Rossmann C, Windpassinger C, Brunner D, Kovacevic A, Schweighofer N, Malli R, Schuligoi R, Prokesch A, Kluve-Beckerman B, Graier WF, Kratky D, Sattler W, Malle E. Rossmann C, et al. Among authors: malli r. Biochem Biophys Res Commun. 2014 Aug 8;450(4):1643-9. doi: 10.1016/j.bbrc.2014.07.054. Epub 2014 Jul 17. Biochem Biophys Res Commun. 2014. PMID: 25044109 Free PMC article.
Analysis of a non-lethal biallelic frameshift mutation in ZMPSTE24 reveals utilization of alternative translation initiation codons.
Kaufmann L, Pilic J, Auinger L, Mayer AL, Blatterer J, Semmler-Bruckner J, Abbas S, Rehman K, Ayaz M, Graier WF, Malli R, Petek E, Wagner K, Al Kaissi A, Khan MA, Windpassinger C. Kaufmann L, et al. Among authors: malli r. Clin Genet. 2023 Oct;104(4):491-496. doi: 10.1111/cge.14381. Epub 2023 Jun 4. Clin Genet. 2023. PMID: 37270786
Mutation in NSUN2, which encodes an RNA methyltransferase, causes autosomal-recessive intellectual disability.
Khan MA, Rafiq MA, Noor A, Hussain S, Flores JV, Rupp V, Vincent AK, Malli R, Ali G, Khan FS, Ishak GE, Doherty D, Weksberg R, Ayub M, Windpassinger C, Ibrahim S, Frye M, Ansar M, Vincent JB. Khan MA, et al. Among authors: malli r. Am J Hum Genet. 2012 May 4;90(5):856-63. doi: 10.1016/j.ajhg.2012.03.023. Epub 2012 Apr 26. Am J Hum Genet. 2012. PMID: 22541562 Free PMC article.
Endothelial lipase increases eNOS activating capacity of high-density lipoprotein.
Radulović S, Gottschalk B, Hörl G, Zardoya-Laguardia P, Schilcher I, Hallström S, Vujić N, Schmidt K, Trieb M, Graier WF, Malli R, Kratky D, Marsche G, Frank S. Radulović S, et al. Among authors: malli r. Biochim Biophys Acta Mol Cell Biol Lipids. 2020 Apr;1865(4):158612. doi: 10.1016/j.bbalip.2020.158612. Epub 2020 Jan 7. Biochim Biophys Acta Mol Cell Biol Lipids. 2020. PMID: 31923467 Free PMC article.
Development of novel FP-based probes for live-cell imaging of nitric oxide dynamics.
Eroglu E, Gottschalk B, Charoensin S, Blass S, Bischof H, Rost R, Madreiter-Sokolowski CT, Pelzmann B, Bernhart E, Sattler W, Hallström S, Malinski T, Waldeck-Weiermair M, Graier WF, Malli R. Eroglu E, et al. Among authors: malli r. Nat Commun. 2016 Feb 4;7:10623. doi: 10.1038/ncomms10623. Nat Commun. 2016. PMID: 26842907 Free PMC article.
163 results