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  1. Article: Omics Analyses in a Neural Stem Cell Model of Familial Parkinson's Disease.

    Notopoulou, Sofia / Gkekas, Ioannis / Petrakis, Spyros

    Advances in experimental medicine and biology

    2023  Volume 1423, Page(s) 149–160

    Abstract: Parkinson's disease (PD) is the second most common neurodegenerative disorder, affecting millions of people worldwide. Despite considerable efforts, the underlying pathological mechanisms remain elusive, and yet, no treatment has been developed to ... ...

    Abstract Parkinson's disease (PD) is the second most common neurodegenerative disorder, affecting millions of people worldwide. Despite considerable efforts, the underlying pathological mechanisms remain elusive, and yet, no treatment has been developed to efficiently reverse or modify disease progression. Thus, new experimental models are required to provide insights into the pathology of PD. Small-molecule neural precursor cells (smNPCs) are ideal for the study of neurodegenerative disorders due to their neural identity and stem cell properties. Cytoplasmic aggregates of α-synuclein (αSyn) are considered a hallmark of PD and a point mutation in the gene encoding p.A53T is responsible for a familial PD form with earlier and robust symptom onset. In order to study the cellular pathology of PD, we genetically modified smNPCs to inducibly overexpress EYFP-SNCA A53T. This cellular model was biochemically characterized, while dysregulated biological pathways and key regulators of PD pathology were identified by computational analyses. Our study indicates three novel genes, UBA52, PIP5K1A, and RPS2, which may mediate PD cellular pathology.
    MeSH term(s) Humans ; Parkinson Disease/metabolism ; Neural Stem Cells/metabolism ; alpha-Synuclein/genetics ; alpha-Synuclein/metabolism ; Neurodegenerative Diseases ; Neurons/metabolism
    Chemical Substances alpha-Synuclein
    Language English
    Publishing date 2023-07-31
    Publishing country United States
    Document type Journal Article
    ZDB-ID 410187-X
    ISSN 0065-2598
    ISSN 0065-2598
    DOI 10.1007/978-3-031-31978-5_12
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

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  2. Article: T cell receptor gene repertoire profiles in subgroups of patients with chronic lymphocytic leukemia bearing distinct genomic aberrations.

    Vlachonikola, Elisavet / Pechlivanis, Nikolaos / Karakatsoulis, Georgios / Sofou, Electra / Gkoliou, Glykeria / Jeromin, Sabine / Stavroyianni, Niki / Ranghetti, Pamela / Scarfo, Lydia / Österholm, Cecilia / Mansouri, Larry / Notopoulou, Sofia / Siorenta, Alexandra / Anagnostopoulos, Achilles / Ghia, Paolo / Haferlach, Claudia / Rosenquist, Richard / Psomopoulos, Fotis / Kouvatsi, Anastasia /
    Baliakas, Panagiotis / Stamatopoulos, Kostas / Chatzidimitriou, Anastasia

    Frontiers in oncology

    2023  Volume 13, Page(s) 1097942

    Abstract: Background: Microenvironmental interactions of the malignant clone with T cells are critical throughout the natural history of chronic lymphocytic leukemia (CLL). Indeed, clonal expansions of T cells and shared clonotypes exist between different CLL ... ...

    Abstract Background: Microenvironmental interactions of the malignant clone with T cells are critical throughout the natural history of chronic lymphocytic leukemia (CLL). Indeed, clonal expansions of T cells and shared clonotypes exist between different CLL patients, strongly implying clonal selection by antigens. Moreover, immunogenic neoepitopes have been isolated from the clonotypic B cell receptor immunoglobulin sequences, offering a rationale for immunotherapeutic approaches. Here, we interrogated the T cell receptor (TR) gene repertoire of CLL patients with different genomic aberration profiles aiming to identify unique signatures that would point towards an additional source of immunogenic neoepitopes for T cells.
    Experimental design: TR gene repertoire profiling using next generation sequencing in groups of patients with CLL carrying one of the following copy-number aberrations (CNAs): del(11q), del(17p), del(13q), trisomy 12, or gene mutations in
    Results: Oligoclonal expansions were found in all patients with distinct recurrent genomic aberrations; these were more pronounced in cases bearing CNAs, particularly trisomy 12, rather than gene mutations. Shared clonotypes were found both within and across groups, which appeared to be CLL-biased based on extensive comparisons against TR databases from various entities. Moreover,
    Conclusions: Distinct TR repertoire profiles were identified in groups of patients with CLL bearing different genomic aberrations, alluding to distinct selection processes. Abnormal protein expression and gene dosage effects associated with recurrent genomic aberrations likely represent a relevant source of CLL-specific selecting antigens.
    Language English
    Publishing date 2023-02-01
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2649216-7
    ISSN 2234-943X
    ISSN 2234-943X
    DOI 10.3389/fonc.2023.1097942
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Spinocerebellar Ataxia Type 1 Characteristics in Patient-Derived Fibroblast and iPSC-Derived Neuronal Cultures.

    Buijsen, Ronald A M / Hu, Michel / Sáez-González, Maria / Notopoulou, Sofia / Mina, Eleni / Koning, Winette / Gardiner, Sarah L / van der Graaf, Linda M / Daoutsali, Elena / Pepers, Barry A / Mei, Hailiang / van Dis, Vera / Frimat, Jean-Philippe / van den Maagdenberg, Arn M J M / Petrakis, Spyros / van Roon-Mom, Willeke M C

    Movement disorders : official journal of the Movement Disorder Society

    2023  Volume 38, Issue 8, Page(s) 1428–1442

    Abstract: Background: Spinocerebellar ataxia type 1 (SCA1) is a neurodegenerative disease caused by a polyglutamine expansion in the ataxin-1 protein resulting in neuropathology including mutant ataxin-1 protein aggregation, aberrant neurodevelopment, and ... ...

    Abstract Background: Spinocerebellar ataxia type 1 (SCA1) is a neurodegenerative disease caused by a polyglutamine expansion in the ataxin-1 protein resulting in neuropathology including mutant ataxin-1 protein aggregation, aberrant neurodevelopment, and mitochondrial dysfunction.
    Objectives: Identify SCA1-relevant phenotypes in patient-specific fibroblasts and SCA1 induced pluripotent stem cells (iPSCs) neuronal cultures.
    Methods: SCA1 iPSCs were generated and differentiated into neuronal cultures. Protein aggregation and neuronal morphology were evaluated using fluorescent microscopy. Mitochondrial respiration was measured using the Seahorse Analyzer. The multi-electrode array (MEA) was used to identify network activity. Finally, gene expression changes were studied using RNA-seq to identify disease-specific mechanisms.
    Results: Bioenergetics deficits in patient-derived fibroblasts and SCA1 neuronal cultures showed altered oxygen consumption rate, suggesting involvement of mitochondrial dysfunction in SCA1. In SCA1 hiPSC-derived neuronal cells, nuclear and cytoplasmic aggregates were identified similar in localization as aggregates in SCA1 postmortem brain tissue. SCA1 hiPSC-derived neuronal cells showed reduced dendrite length and number of branching points while MEA recordings identified delayed development in network activity in SCA1 hiPSC-derived neuronal cells. Transcriptome analysis identified 1050 differentially expressed genes in SCA1 hiPSC-derived neuronal cells associated with synapse organization and neuron projection guidance, where a subgroup of 151 genes was highly associated with SCA1 phenotypes and linked to SCA1 relevant signaling pathways.
    Conclusions: Patient-derived cells recapitulate key pathological features of SCA1 pathogenesis providing a valuable tool for the identification of novel disease-specific processes. This model can be used for high throughput screenings to identify compounds, which may prevent or rescue neurodegeneration in this devastating disease. © 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
    MeSH term(s) Mice ; Animals ; Induced Pluripotent Stem Cells ; Ataxins/metabolism ; Protein Aggregates ; Nerve Tissue Proteins/genetics ; Nerve Tissue Proteins/metabolism ; Nuclear Proteins/genetics ; Mice, Transgenic ; Purkinje Cells/metabolism ; Purkinje Cells/pathology ; Spinocerebellar Ataxias/metabolism ; Fibroblasts/metabolism
    Chemical Substances Ataxins ; Protein Aggregates ; Nerve Tissue Proteins ; Nuclear Proteins
    Language English
    Publishing date 2023-06-06
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 607633-6
    ISSN 1531-8257 ; 0885-3185
    ISSN (online) 1531-8257
    ISSN 0885-3185
    DOI 10.1002/mds.29446
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

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