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11.07.2022

Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory function

Authors Lin SJ, Vona B, Porter HM, Izadi M, Huang K, Lacassie Y, Rosenfeld JA, Khan S, Petree C, Ali TA, Muhammad N, Khan SA, Muhammad N, Liu P, Haymon ML, Rüschendorf F, Kong IK, Schnapp L, Shur N, Chorich L, Layman L, Haaf T, Pourkarimi E, Kim HG, Varshney
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07.07.2022

Whole genome sequencing for newborns—The devil is in the details

Authors Vona B Journal Clinicial and Translational Discovery Citation Clin Transl Dis. 2022 Jul 7. Abstract No abtract available. DOI 10.1002/ctd2.102  
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06.07.2022

Nuclear alpha-synuclein is present in the human brain and is modified in dementia with Lewy bodies

Authors Koss DJ, Erskine D, Porter A, Palmoski P, Menon H, Todd OGJ, Leite M, Attems J, Outeiro TF Journal Acta Neuropathologica Communications Citation Acta Neuropathol Commun. 2022 Jul 6;10(1):98. Abstract Dementia with Lewy bodies (DLB) is pathologically defined by the cytoplasmic accumulation of alpha-synuclein (aSyn) within neurons in the
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06.07.2022

Model-based prediction of optogenetic sound encoding in the human cochlea by future optical cochlear implants

Authors Khurana L, Keppeler D, Jablonski L, Moser T Journal Computational and Structural Biotechnology Journal Citation Comput Struct Biotechn J, 2022. Abstract When hearing fails, electrical cochlear implants (eCIs) partially restore hearing by direct stimulation of spiral ganglion neurons (SGNs). As light can be better confined in space than electrical
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06.07.2022

Single-Molecule Fluorescence Lifetime Imaging Using Wide-Field and Confocal-Laser Scanning Microscopy: A Comparative Analysis

Authors Oleksiievets N, Mathew C, Thiele JC, Gallea J, Nevskyi O, Gregor I, Weber A, Tsukanov R, Enderlein J Journal Nano Letters Citation Nano Lett. 2022. Abstract A recent addition to the toolbox of super-resolution microscopy methods is fluorescence-lifetime single-molecule localization microscopy (FL-SMLM). The synergy of SMLM and fluorescence-lifetime imaging
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05.07.2022

WARS1 and SARS1: two tRNA synthetases implicated in autosomal recessive microcephaly

Authors Bögershausen N, Krawczyk HE, Jamra RA, Lin SJ, Yigit G, Hüning I, Polo AM, Vona B, Huang K, Schmidt J, Altmüller J, Luppe J, Platzer K, Dörgeloh BB, Busche A, Biskup S, Mendes MI, Smith DEC, Salomons GS, Zibat A, Bültmann E, Nürnberg P, Spielmann M, Lemke JR, Li
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05.07.2022

An iodine-containing probe as a tool for molecular detection in secondary ion mass spectrometry

Authors Kabatas Glowacki S, Agüi-Gonzalez P, Sograte-Idrissi S, Jähne S, Opazo F, Phan NTN, Rizzoli SO Journal Chemical Communications Citation Chem. Commun., 2022,58, 7558-7561. Abstract We developed here an iodine-containing probe that can be used to identify the molecules of interest in secondary ion mass spectrometry (SIMS) by simple immunolabelling
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01.07.2022

MemBrain: A deep learning-aided pipeline for detection of membrane proteins in Cryo-electron tomograms

Authors Lamm L, Righetto RD, Wietrzynski W, Pöge M, Martinez-Sanchez A, Peng T, Engel BD Journal Computer Methods and Programs in Biomedicine Citation Comput Methods Programs Biomed. 2022 Jul 1;224:106990. Abstract Background and objective: Cryo-electron tomography (cryo-ET) is an imaging technique that enables 3D visualization of the native cellular environment
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30.06.2022

Distinct roles of the meningeal layers in CNS autoimmunity

Authors Merlini A, Haberl M, Strauß J, Hildebrand L, Genc N, Franz J, Chilov D, Alitalo K, Flügel-Koch C, Stadelmann C, Flügel A, Odoardi F Journal Nature Neuroscience Citation Nat Neurosci. 2022 Jun 30. Abstract The meninges, comprising the leptomeninges (pia and arachnoid layers) and the pachymeninx (dura layer), participate
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27.06.2022

Aromaticity at position 39 in α-synuclein: A modulator of amyloid fibril assembly and membrane-bound conformations

Authors Buratti FA, Boeffinger N, Garro HA, Flores JS, Hita FJ, Gonçalves PDC, Copello FDR, Lizarraga L, Rossetti G, Carloni P, Zweckstetter M, Outeiro TF, Eimer S, Griesinger C, Fernández CO Journal Protein Science Citation Protein Sci. 2022 Jul;31(7):e4360. Abstract Recent studies revealed that molecular events related with the physiology
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