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  1. Book ; Online ; Thesis: Genetik der psychomotorischen Entwicklungsstörung

    Finck, Anja Johanna [Verfasser]

    Systematische Trio-Exom-Analyse zur Identifizierung und Charakterisierung neuer Gene der psychomotorischen Entwicklungsstörung

    2022  

    Author's details Anja Johanna Finck
    Keywords Medizin, Gesundheit ; Medicine, Health
    Subject code sg610
    Language German
    Publisher Universitätsbibliothek Leipzig
    Publishing place Leipzig
    Document type Book ; Online ; Thesis
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  2. Article ; Online: Establishment of a high-content imaging assay for tau aggregation in hiPSC-derived neurons differentiated from two protocols to routinely evaluate compounds and genetic perturbations.

    Bahnassawy, Lamiaa / Nicolaisen, Nathalie / Untucht, Christopher / Mielich-Süss, Benjamin / Reinhardt, Lydia / Ried, Janina S / Morawe, Martina P / Geist, Daniela / Finck, Anja / Käfer, Elke / Korffmann, Jürgen / Townsend, Matthew / Ravikumar, Brinda / Lakics, Viktor / Cik, Miroslav / Reinhardt, Peter

    SLAS discovery : advancing life sciences R & D

    2023  Volume 29, Issue 2, Page(s) 100137

    Abstract: Aberrant protein aggregation is a pathological cellular hallmark of many neurodegenerative diseases, such as Alzheimer's disease (AD) and frontotemporal dementia (FTD), where the tau protein is aggregating, forming neurofibrillary tangles (NFTs), and ... ...

    Abstract Aberrant protein aggregation is a pathological cellular hallmark of many neurodegenerative diseases, such as Alzheimer's disease (AD) and frontotemporal dementia (FTD), where the tau protein is aggregating, forming neurofibrillary tangles (NFTs), and propagating from neuron to neuron. These processes have been linked to disease progression and a decline in cognitive function. Various therapeutic approaches aim at the prevention or reduction of tau aggregates in neurons. Human induced pluripotent stem cells (hiPSCs) are a very valuable tool in neuroscience discovery, as they offer access to potentially unlimited amounts of cell types that are affected in disease, including cortical neurons, for in vitro studies. We have generated an in vitro model for tau aggregation that uses hiPSC - derived neurons expressing an aggregation prone, fluorescently tagged version of the human tau protein after lentiviral transduction. Upon addition of tau seeds in the form of recombinant sonicated paired helical filaments (sPHFs), the neurons show robust, disease-like aggregation of the tau protein. The model was developed as a plate-based high content screening assay coupled with an image analysis algorithm to evaluate the impact of small molecules or genetic perturbations on tau. We show that the assay can be used to evaluate small molecules or screen targeted compound libraries. Using siRNA-based gene knockdown, genes of interest can be evaluated, and we could show that a targeted gene library can be screened, by screening nearly 100 deubiquitinating enzymes (DUBs) in that assay. The assay uses an imaging-based readout, a relatively short timeline, quantifies the extent of tau aggregation, and also allows the assessment of cell viability. Furthermore, it can be easily adapted to different hiPSC lines or neuronal subtypes. Taken together, this complex and highly relevant approach can be routinely applied on a weekly basis in the screening funnels of several projects and generates data with a turnaround time of approximately five weeks.
    MeSH term(s) Humans ; tau Proteins/genetics ; tau Proteins/metabolism ; Induced Pluripotent Stem Cells/metabolism ; Alzheimer Disease/metabolism ; Neurons/metabolism
    Chemical Substances tau Proteins
    Language English
    Publishing date 2023-12-19
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2885123-7
    ISSN 2472-5560 ; 2472-5552
    ISSN (online) 2472-5560
    ISSN 2472-5552
    DOI 10.1016/j.slasd.2023.12.009
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  3. Article: Defining and expanding the phenotype of

    Johannesen, Katrine M / Mitter, Diana / Janowski, Robert / Roth, Christian / Toulouse, Joseph / Poulat, Anne-Lise / Ville, Dorothee M / Chatron, Nicolas / Brilstra, Eva / Geleijns, Karin / Born, Alfred Peter / McLean, Scott / Nugent, Kimberly / Baynam, Gareth / Poulton, Cathryn / Dreyer, Lauren / Gration, Dylan / Schulz, Solveig / Dieckmann, Andrea /
    Helbig, Katherine L / Merkenschlager, Andreas / Jamra, Rami / Finck, Anja / Gardella, Elena / Hjalgrim, Helle / Mirzaa, Ghayda / Brancati, Francesco / Bierhals, Tatjana / Denecke, Jonas / Hempel, Maja / Lemke, Johannes R / Rubboli, Guido / Muschke, Petra / Guerrini, Renzo / Vetro, Annalisa / Niessing, Dierk / Lesca, Gaetan / Møller, Rikke S

    Neurology. Genetics

    2019  Volume 5, Issue 6, Page(s) e373

    Abstract: Objective: The study is aimed at widening the clinical and genetic spectrum and at assessing genotype-phenotype associations in : Methods: Through diagnostic gene panel screening in an epilepsy cohort, and recruiting through GeneMatcher and our ... ...

    Abstract Objective: The study is aimed at widening the clinical and genetic spectrum and at assessing genotype-phenotype associations in
    Methods: Through diagnostic gene panel screening in an epilepsy cohort, and recruiting through GeneMatcher and our international network, we collected 10 patients with biallelic
    Results: Biallelic pathogenic variants in
    Conclusions: These data revealed first genotype-phenotype associations and may serve for improved interpretation of new
    Language English
    Publishing date 2019-12-10
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2818607-2
    ISSN 2376-7839
    ISSN 2376-7839
    DOI 10.1212/NXG.0000000000000373
    Database MEDical Literature Analysis and Retrieval System OnLINE

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