2023

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14.11.2023

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

Authors Li D, Wang Q, Bayat A, Battig MR, Zhou Y, Bosch DG, van Haaften G, Granger L, Petersen AK, Pérez-Jurado LA, Aznar-Laín G, Aneja A, Hancarova M, Bendova S, Schwarz M, Kremlikova Pourova R, Sedlacek Z, Keena BA, March ME, Hou C, O’Connor N, Bhoj EJ, Harr MH, Lemire
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13.11.2023

Tazarotene and Bexarotene Show Efficacy as In Vitro Therapeutic Agents in Multiple Sulfatase Deficiency

Authors Schlotawa l, Matysiak K, Kettwig M, Ahrens-Nicklas RC, Baud M, Berulava T, Brunetti-Pierri N, Gagne A, Herbst ZM, Maguire JA, Monfregola J, Pena T, Radhakrishnan K, Schröder S, Waxman EA, Ballabio A, Dierks T, Fischer A, French DL, Gelb MH, Gärtner J Journal Neuropediatrics Citation Neuropediatrics 2023; 54(S 01):
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10.11.2023

Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders

Authors Kaiyrzhanov R, Rad A, Lin SJ, Bertoli-Avella A, Kallemeijn WW, Godwin A, Zaki MS, Huang K, Lau T, Petree C, Efthymiou S, Ghayoor Karimiani E, Hempel M, Normand EA, Rudnik-Schöneborn S, Schatz UA, Baggelaar MP, Ilyas M, Sultan T, Alvi JR, Ganieva M, Fowler B, Aanicai R, Akay Tayfun
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06.11.2023

Structure of the transcribing RNA polymerase II-Elongin complex

Authors Chen Y, Kokic G, Dienemann C, Dybkov O, Urlaub H, Cramer P Journal Nature Structural & Molecular Biology Citation Nat Struct Mol Biol. 2023 Nov 6. Abstract Elongin is a heterotrimeric elongation factor for RNA polymerase (Pol) II transcription that is conserved among metazoa. Here, we report three cryo-EM
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06.11.2023

Activation of the integrated stress response rewires cardiac metabolism in Barth syndrome

Authors Kutschka I, Bertero E, Wasmus C, Xiao K, Yang L, Chen X, Oshima Y, Fischer M, Erk M, Arslan B, Alhasan L, Grosser D, Ermer KJ, Nickel A, Kohlhaas M, Eberl H, Rebs S, Streckfuss-Bömeke K, Schmitz W, Rehling P, Thum T, Higuchi T, Rabinowitz J, Maack C, Dudek
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02.11.2023

Contractility measurements for cardiotoxicity screening with ventricular myocardial slices of pigs

Authors Shi R, Reichardt M, Fiegle DJ, Küpfer LK, Czajka T, Sun Z, Salditt T, Dendorfer A, Seidel T, Bruegmann T Journal Cardiovascular Research Citation Cardiovasc Res. 2023 Nov 2:cvad141. Abstract Aims: Cardiotoxicity is one major reason why drugs do not enter or are withdrawn from the market. Thus, approaches
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30.10.2023

Mammalian oocyes store proteins for the early embryo on cytoplasmic lattices

Authors Ida M.A. Jentoft, Felix J.B. Bäuerlein, Luisa M. Welp, Benjamin H. Cooper, Arsen Petrovic, Chun So, Sarah Mae Penir, Antonio Z. Politi, Yehor Horokhovskyi, Iina Takala, Heike Eckel, Rüdiger Moltrecht, Peter Lénárt, Tommaso Cavazza, Juliane Liepe, Nils Brose, Henning Urlaub, Rubén Fernández-Busnadiego, Melina Schuh Journal Cell Citation Cell, 2023,
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30.10.2023

An NFATc1/SMAD3/cJUN complex restricted to SMAD4-deficient pancreatic cancer guides rational therapies

Authors Hasselluhn MC, Schlösser D, Versemann L, Schmidt GE, Ulisse M, Oschwald J, Zhang Z, Hamdan F, Xiao H, Kopp W, Spitalieri J, Kellner C, Schneider C, Reutlinger K, Nagarajan S, Steuber B, Sastra SA, Palermo CF, Appelhans J, Bohnenberger H, Todorovic J, Kostyuchek I, Ströbel P, Bockelmann A, König
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26.10.2023

ATG9 resides on a unique population of small vesicles in presynaptic nerve terminals

Authors Binotti B, Ninov M, Cepeda AP, Ganzella M, Matti U, Riedel D, Urlaub H, Sambandan S, Jahn R Journal Autophagy Citation Autophagy. 2023 Oct 26:1-19. Abstract In neurons, autophagosome biogenesis occurs mainly in distal axons, followed by maturation during retrograde transport. Autophagosomal growth depends on the supply of membrane
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24.10.2023

Fully-primed slowly-recovering vesicles mediate presynaptic LTP at neocortical neurons

Authors Weichard I, Taschenberger H, Gsell F, Bornschein G, Ritzau-Jost A, Schmidt H, Kittel RJ, Eilers J, Neher E, Hallermann S, Nerlich J. Journal Proceedings of the National Academy of Sciences Citation Proc Natl Acad Sci U S A. 2023 Oct 24;120(43):e2305460120. Abstract Pre- and postsynaptic forms of long-term potentiation
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