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09.07.2021

Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies

Authors Iqbal M, Maroofian R, Çavdarlı B, Riccardi F, Field M, Banka S, Bubshait DK, Li Y, Hertecant J, Baig SM, Dyment D, Efthymiou S, Abdullah U, Makhdoom EUH, Ali Z, Scherf de Almeida T, Molinari F, Mignon-Ravix C, Chabrol B, Antony J, Ades L, Pagnamenta AT, Jackson A, Douzgou
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09.07.2021

isoSTED microscopy with water-immersion lenses and background reduction

Authors Siegmund R, Werner F, Jakobs S, Geisler C, Egner A Journal Biophysical Journal Citation Biophys J. 2021 Jul 8:S0006-3495(21)00556-7. Abstract Fluorescence microscopy is an excellent tool to gain knowledge on cellular structures and biochemical processes. Stimulated emission depletion (STED) microscopy provides a resolution in the range of a few
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07.07.2021

Preclinical evidence for the therapeutic value of TBX5 normalization in arrhythmia control

Authors Rathjens FS, Blenkle A, Iyer LM, Renger A, Syeda F, Noack C, Jungmann A, Dewenter M, Toischer K, El-Armouche A, Müller OJ, Fabritz L, Zimmermann WH, Zelarayan LC, Zafeiriou MP Journal Cardiovascular Research Citation Cardiovasc Res. 2021 Jul 7;117(8):1908-1922. Abstract Aims  Arrhythmias and sudden cardiac death (SCD) occur commonly
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27.06.2021

Brain iron enrichment attenuates α-synuclein spreading after injection of preformed fibrils

Authors Joppe KDN, Tatenhorst L, Caldi Gomes L, Zhang S, Parvaz M, Carboni E, Roser AE, El DeBakey H, Bähr M, Vogel-Mikuš K, Ip CW, Becker S, Zweckstetter M, Lingor P Journal Journal of Neurochemistry Citation J Neurochem. 2021 Jun 27. Abstract Regional iron accumulation and α-synuclein (α-syn) spreading pathology
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25.06.2021

Loss-of-function variants in DNM1 cause a specific form of developmental and epileptic encephalopathy only in biallelic state

Authors Yigit G, Sheffer R, Daana M, Li Y, Kaygusuz E, Mor-Shakad H, Altmüller J, Nürnberg P, Douiev L, Kaulfuss S, Burfeind P, Wollnik B, Brockmann K Journal Journal of Medical Genetics Citation J Med Genet. 2021 Jun 25:jmedgenet-2021-107769. Abstract Background Developmental and epileptic encephalopathies (DEEs) represent a group of
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24.06.2021

A large-scale nanoscopy and biochemistry analysis of postsynaptic dendritic spines

Authors Helm MS, Dankovich TM, Mandad S, Rammer B, Jähne S, Salimi V, Koerbs C, Leibrandt R, Urlaub H, Schikorski T, Rizzoli SO Journal Nature Neuroscience Citation Nat Neurosci (2021). Abstract Dendritic spines, the postsynaptic compartments of excitatory neurotransmission, have different shapes classified from ‘stubby’ to ‘mushroom-like’. Whereas mushroom spines
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24.06.2021

Photophysical properties and fluorescence lifetime imaging of exfoliated near-infrared fluorescent silicate nanosheets

Authors Selvaggio G, Weitzel M, Oleksiievets N, Oswald TA, Nißler R, Mey I, Karius V, Enderlein J, Tsukanov R, Kruss S Journal Nanoscale Advances Citation Nanoscale Adv., 2021. Abstract The layered silicates Egyptian Blue (CaCuSi4O10, EB), Han Blue (BaCuSi4O10, HB) and Han Purple (BaCuSi2O6, HP) emit as bulk materials bright
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17.06.2021

Two distinct mechanisms of RNA polymerase II elongation stimulation in vivo

Authors Žumer K, Maier KC, Farnung L, Jaeger MG, Rus P, Winter G, Cramer P Journal Molecular Cell Citation Mol Cell. 2021 Jun 17:S1097-2765(21)00441-X. In press. Abstract Transcription by RNA polymerase II (RNA Pol II) relies on the elongation factors PAF1 complex (PAF), RTF1, and SPT6. Here, we use rapid
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17.06.2021

Concurrent axon and myelin destruction differentiates X-linked adrenoleukodystrophy from multiple sclerosis

Authors Bergner CG, Genc N, Hametner S, Franz J, van der Meer F, Mitkovski M, Weber MS, Stoltenburg-Didinger G, Kühl JS, Köhler W, Brück W, Gärtner J, Stadelmann-Nessler C Journal Glia Citation Glia, 2021, 1-16. Abstract Cerebral disease manifestation occurs in about two thirds of males with X-linked adrenoleukodystrophy (CALD)
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16.06.2021

Structural basis of GTPase-mediated mitochondrial ribosome biogenesis and recycling

Authors Hillen HS, Lavdovskaia E, Nadler F, Hanitsch E, Linden A, Bohnsack KE, Urlaub H, Richter-Dennerlein R Journal Nature Communications Citation Nat Commun. 2021 Jun 16;12(1):3672. Abstract Ribosome biogenesis requires auxiliary factors to promote folding and assembly of ribosomal proteins and RNA. Particularly, maturation of the peptidyl transferase center (PTC)
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