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  1. Article ; Online: Compromised transcription-mRNA export factor THOC2 causes R-loop accumulation, DNA damage and adverse neurodevelopment.

    Bhattacharjee, Rudrarup / Jolly, Lachlan A / Corbett, Mark A / Wee, Ing Chee / Rao, Sushma R / Gardner, Alison E / Ritchie, Tarin / van Hugte, Eline J H / Ciptasari, Ummi / Piltz, Sandra / Noll, Jacqueline E / Nazri, Nazzmer / van Eyk, Clare L / White, Melissa / Fornarino, Dani / Poulton, Cathryn / Baynam, Gareth / Collins-Praino, Lyndsey E / Snel, Marten F /
    Nadif Kasri, Nael / Hemsley, Kim M / Thomas, Paul Q / Kumar, Raman / Gecz, Jozef

    Nature communications

    2024  Volume 15, Issue 1, Page(s) 1210

    Abstract: We implicated the X-chromosome THOC2 gene, which encodes the largest subunit of the highly-conserved TREX (Transcription-Export) complex, in a clinically complex neurodevelopmental disorder with intellectual disability as the core phenotype. To study the ...

    Abstract We implicated the X-chromosome THOC2 gene, which encodes the largest subunit of the highly-conserved TREX (Transcription-Export) complex, in a clinically complex neurodevelopmental disorder with intellectual disability as the core phenotype. To study the molecular pathology of this essential eukaryotic gene, we generated a mouse model based on a hypomorphic Thoc2 exon 37-38 deletion variant of a patient with ID, speech delay, hypotonia, and microcephaly. The Thoc2 exon 37-38 deletion male (Thoc2
    MeSH term(s) Humans ; Male ; Mice ; Animals ; Transcription Factors/metabolism ; R-Loop Structures ; Active Transport, Cell Nucleus ; Intellectual Disability/genetics ; DNA Damage ; Phenotype ; RNA, Messenger/metabolism
    Chemical Substances Transcription Factors ; RNA, Messenger
    Language English
    Publishing date 2024-02-08
    Publishing country England
    Document type Journal Article
    ZDB-ID 2553671-0
    ISSN 2041-1723 ; 2041-1723
    ISSN (online) 2041-1723
    ISSN 2041-1723
    DOI 10.1038/s41467-024-45121-5
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article: The Enemy within: Innate Surveillance-Mediated Cell Death, the Common Mechanism of Neurodegenerative Disease.

    Richards, Robert I / Robertson, Sarah A / O'Keefe, Louise V / Fornarino, Dani / Scott, Andrew / Lardelli, Michael / Baune, Bernhard T

    Frontiers in neuroscience

    2016  Volume 10, Page(s) 193

    Abstract: Neurodegenerative diseases comprise an array of progressive neurological disorders all characterized by the selective death of neurons in the central nervous system. Although, rare (familial) and common (sporadic) forms can occur for the same disease, it ...

    Abstract Neurodegenerative diseases comprise an array of progressive neurological disorders all characterized by the selective death of neurons in the central nervous system. Although, rare (familial) and common (sporadic) forms can occur for the same disease, it is unclear whether this reflects several distinct pathogenic pathways or the convergence of different causes into a common form of nerve cell death. Remarkably, neurodegenerative diseases are increasingly found to be accompanied by activation of the innate immune surveillance system normally associated with pathogen recognition and response. Innate surveillance is the cell's quality control system for the purpose of detecting such danger signals and responding in an appropriate manner. Innate surveillance is an "intelligent system," in that the manner of response is relevant to the magnitude and duration of the threat. If possible, the threat is dealt with within the cell in which it is detected, by degrading the danger signal(s) and restoring homeostasis. If this is not successful then an inflammatory response is instigated that is aimed at restricting the spread of the threat by elevating degradative pathways, sensitizing neighboring cells, and recruiting specialized cell types to the site. If the danger signal persists, then the ultimate response can include not only the programmed cell death of the original cell, but the contents of this dead cell can also bring about the death of adjacent sensitized cells. These responses are clearly aimed at destroying the ability of the detected pathogen to propagate and spread. Innate surveillance comprises intracellular, extracellular, non-cell autonomous and systemic processes. Recent studies have revealed how multiple steps in these processes involve proteins that, through their mutation, have been linked to many familial forms of neurodegenerative disease. This suggests that individuals harboring these mutations may have an amplified response to innate-mediated damage in neural tissues, and renders innate surveillance mediated cell death a plausible common pathogenic pathway responsible for neurodegenerative diseases, in both familial and sporadic forms. Here we have assembled evidence in favor of the hypothesis that neurodegenerative disease is the cumulative result of chronic activation of the innate surveillance pathway, triggered by endogenous or environmental danger or damage associated molecular patterns in a progressively expanding cascade of inflammation, tissue damage and cell death.
    Language English
    Publishing date 2016-05-10
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2411902-7
    ISSN 1662-453X ; 1662-4548
    ISSN (online) 1662-453X
    ISSN 1662-4548
    DOI 10.3389/fnins.2016.00193
    Database MEDical Literature Analysis and Retrieval System OnLINE

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