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[Mutation-Dependent Mechanisms and Their Impact on Targeted Therapeutic Strategies with Reference to Bestrophin 1 and the Bestrophinopathies].
Klin Monbl Augenheilkd. 2020 Mar;237(3):259-266. doi: 10.1055/a-1065-2129. Epub 2020 Mar 2.
Klin Monbl Augenheilkd. 2020.
PMID: 32120431
Review.
German.
Mutation-Dependent Pathomechanisms Determine the Phenotype in the Bestrophinopathies.
Nachtigal AL, Milenkovic A, Brandl C, Schulz HL, Duerr LMJ, Lang GE, Reiff C, Herrmann P, Kellner U, Weber BHF.
Nachtigal AL, et al. Among authors: milenkovic a.
Int J Mol Sci. 2020 Feb 26;21(5):1597. doi: 10.3390/ijms21051597.
Int J Mol Sci. 2020.
PMID: 32111077
Free PMC article.
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Bestrophin 1 is indispensable for volume regulation in human retinal pigment epithelium cells.
Milenkovic A, Brandl C, Milenkovic VM, Jendryke T, Sirianant L, Wanitchakool P, Zimmermann S, Reiff CM, Horling F, Schrewe H, Schreiber R, Kunzelmann K, Wetzel CH, Weber BH.
Milenkovic A, et al.
Proc Natl Acad Sci U S A. 2015 May 19;112(20):E2630-9. doi: 10.1073/pnas.1418840112. Epub 2015 May 4.
Proc Natl Acad Sci U S A. 2015.
PMID: 25941382
Free PMC article.
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BEST1 protein stability and degradation pathways differ between autosomal dominant Best disease and autosomal recessive bestrophinopathy accounting for the distinct retinal phenotypes.
Milenkovic A, Milenkovic VM, Wetzel CH, Weber BHF.
Milenkovic A, et al.
Hum Mol Genet. 2018 May 1;27(9):1630-1641. doi: 10.1093/hmg/ddy070.
Hum Mol Genet. 2018.
PMID: 29668979
Free PMC article.
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The Y227N mutation affects bestrophin-1 protein stability and impairs sperm function in a mouse model of Best vitelliform macular dystrophy.
Milenkovic A, Schmied D, Tanimoto N, Seeliger MW, Sparrow JR, Weber BHF.
Milenkovic A, et al.
Biol Open. 2019 Jul 2;8(7):bio041335. doi: 10.1242/bio.041335.
Biol Open. 2019.
PMID: 31201163
Free PMC article.
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In-depth characterisation of Retinal Pigment Epithelium (RPE) cells derived from human induced pluripotent stem cells (hiPSC).
Brandl C, Zimmermann SJ, Milenkovic VM, Rosendahl SM, Grassmann F, Milenkovic A, Hehr U, Federlin M, Wetzel CH, Helbig H, Weber BH.
Brandl C, et al. Among authors: milenkovic a.
Neuromolecular Med. 2014 Sep;16(3):551-64. doi: 10.1007/s12017-014-8308-8. Epub 2014 May 7.
Neuromolecular Med. 2014.
PMID: 24801942
Free PMC article.
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A Candidate Gene Association Study Identifies DAPL1 as a Female-Specific Susceptibility Locus for Age-Related Macular Degeneration (AMD).
Grassmann F, Friedrich U, Fauser S, Schick T, Milenkovic A, Schulz HL, von Strachwitz CN, Bettecken T, Lichtner P, Meitinger T, Arend N, Wolf A, Haritoglou C, Rudolph G, Chakravarthy U, Silvestri G, McKay GJ, Freitag-Wolf S, Krawczak M, Smith RT, Merriam JC, Merriam JE, Allikmets R, Heid IM, Weber BH.
Grassmann F, et al. Among authors: milenkovic a.
Neuromolecular Med. 2015 Jun;17(2):111-20. doi: 10.1007/s12017-015-8342-1. Epub 2015 Feb 14.
Neuromolecular Med. 2015.
PMID: 25680934
Free PMC article.
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