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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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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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16.06.2021

Loss of BAF complex in developing cortex perturbs radial neuronal migration in a WNT signaling-dependent manner

Authors Sokpor G, Kerimoglu C, Nguyen H, Pham L, Rosenbusch J, Wagener R, Nguyen HP, Fischer A, Staiger JF, Tuoc T Journal Frontiers in Molecular Neuroscience Citation Front. Mol. Neurosci., 16 June 2021, 14: 687581. Abstract Radial neuronal migration is a key neurodevelopmental event indispensable for proper cortical laminar organization.
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16.06.2021

Mapping Activity-Dependent Quasi-Stationary States of Mitochondrial Membranes with Graphene-Induced Energy Transfer Imaging

Authors Raja SO, Chizhik AI, Schmidt CF, Enderlein J, Ghosh A Journal Nano Letters Citation Nano Lett. 2021, 21, 8244−8249 Abstract Graphene-induced energy transfer (GIET) was recently introduced for sub-nanometric axial localization of fluorescent molecules. GIET relies on near-field energy transfer from an optically excited fluorophore to a single sheet
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14.06.2021

Radiative Rate Modulation Reveals Near-Unity Quantum Yield of Graphene Quantum Dots

Authors Ghosh S, Oleksiievets N, Enderlein J, Chizhik AI Journal Advanced Optical Materials Citation Adv. Optical Mater. 2021, 2100314. Abstract A fundamental but difficult to assess photophysical property of quantum emitters is their fluorescence quantum yield. It describes how efficiently a fluorophore converts absorbed light into fluorescence. Conventional measurements of
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10.06.2021

Structure of RNA polymerase II pre-initiation complex at 2.9 Å defines initial DNA opening

Authors Schilbach S, Aibara S, Dienemann Chr, Grabbe F, Cramer P Journal Cell Citation Cell. 2021 Jun 10:S0092-8674(21)00629-2. Abstract Transcription initiation requires assembly of the RNA polymerase II (Pol II) pre-initiation complex (PIC) and opening of promoter DNA. Here, we present the long-sought high-resolution structure of the yeast PIC and
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07.06.2021

Low-Expressing Synucleinopathy Mouse Models Based on Oligomer-Forming Mutations and C-Terminal Truncation of α-Synuclein

Authors Martinez Hernandez A, Silbern I, Geffers I, Tatenhorst L, Becker S, Urlaub H, Zweckstetter M, Griesinger C, Eichele G Journal Frontiers in Neuroscience Citation Front Neurosci. 2021 Jun 17;15:643391. Abstract α-synuclein (αSyn) is the main protein component of Lewy bodies, intracellular inclusions found in the brain of Parkinson’s disease
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02.06.2021

Small Molecule Fisetin Modulates Alpha–Synuclein Aggregation

Authors Rosado-Ramos R, Godinho-Pereira J, Marques D, Figueira I, Fleming Outeiro T, Menezes R, Nunes Dos Santos C Journal Molecules Citation Molecules. 2021 Jun 2;26(11):3353. Abstract Phenolic compounds are thought to be important to prevent neurodegenerative diseases (ND). Parkinson’s Disease (PD) is a neurodegenerative disorder known for its typical motor
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