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  1. Article ; Online: The Exon Junction Complex Factor RBM8A in Glial Fibrillary Acid Protein-Expressing Astrocytes Modulates Locomotion Behaviors.

    Asthana, Shravan / Mott, Jennifer / Tong, Mabel / Pei, Zifei / Mao, Yingwei

    Cells

    2024  Volume 13, Issue 6

    Abstract: The role of RNA Binding Motif Protein 8a (RBM8A), an exon junction complex (EJC) component, in neurodevelopmental disorders has been increasingly studied for its crucial role in regulating multiple levels of gene expression. It regulates mRNA splicing, ... ...

    Abstract The role of RNA Binding Motif Protein 8a (RBM8A), an exon junction complex (EJC) component, in neurodevelopmental disorders has been increasingly studied for its crucial role in regulating multiple levels of gene expression. It regulates mRNA splicing, translation, and mRNA degradation and influences embryonic development. RBM8A protein is expressed in both neurons and astrocytes, but little is known about RBM8A's specific role in glial fibrillary acid protein (GFAP)-positive astrocytes. To address the role of RBM8A in astrocytes, we generated a conditional heterozygous knockout (KO) mouse line of
    MeSH term(s) Male ; Female ; Mice ; Animals ; Astrocytes/metabolism ; Glial Fibrillary Acidic Protein/metabolism ; Neurons/metabolism ; Mice, Knockout ; Exons ; Locomotion ; RNA-Binding Proteins/metabolism
    Chemical Substances Glial Fibrillary Acidic Protein ; RBM8A protein, mouse ; RNA-Binding Proteins
    Language English
    Publishing date 2024-03-13
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2661518-6
    ISSN 2073-4409 ; 2073-4409
    ISSN (online) 2073-4409
    ISSN 2073-4409
    DOI 10.3390/cells13060498
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Diverse Roles of the Exon Junction Complex Factors in the Cell Cycle, Cancer, and Neurodevelopmental Disorders-Potential for Therapeutic Targeting.

    Martin, Hannah / Rupkey, Julian / Asthana, Shravan / Yoon, Joy / Patel, Shray / Mott, Jennifer / Pei, Zifei / Mao, Yingwei

    International journal of molecular sciences

    2022  Volume 23, Issue 18

    Abstract: The exon junction complex (EJC) plays a crucial role in regulating gene expression at the levels of alternative splicing, translation, mRNA localization, and nonsense-mediated decay (NMD). The EJC is comprised of three core proteins: RNA-binding motif 8A ...

    Abstract The exon junction complex (EJC) plays a crucial role in regulating gene expression at the levels of alternative splicing, translation, mRNA localization, and nonsense-mediated decay (NMD). The EJC is comprised of three core proteins: RNA-binding motif 8A (RBM8A), Mago homolog (MAGOH), eukaryotic initiation factor 4A3 (eIF4A3), and a peripheral EJC factor, metastatic lymph node 51 (MLN51), in addition to other peripheral factors whose structural integration is activity-dependent. The physiological and mechanistic roles of the EJC in contribution to molecular, cellular, and organismal level function continue to be explored for potential insights into genetic or pathological dysfunction. The EJC's specific role in the cell cycle and its implications in cancer and neurodevelopmental disorders prompt enhanced investigation of the EJC as a potential target for these diseases. In this review, we highlight the current understanding of the EJC's position in the cell cycle, its relation to cancer and developmental diseases, and potential avenues for therapeutic targeting.
    MeSH term(s) Cell Cycle/genetics ; Eukaryotic Initiation Factor-4A/genetics ; Eukaryotic Initiation Factor-4A/metabolism ; Exons/genetics ; Humans ; Neoplasms/drug therapy ; Neoplasms/genetics ; Neurodevelopmental Disorders/genetics ; Nuclear Proteins/genetics ; RNA Splicing ; RNA-Binding Proteins/genetics ; RNA-Binding Proteins/metabolism
    Chemical Substances Nuclear Proteins ; RNA-Binding Proteins ; Eukaryotic Initiation Factor-4A (EC 2.7.7.-)
    Language English
    Publishing date 2022-09-08
    Publishing country Switzerland
    Document type Journal Article ; Review
    ZDB-ID 2019364-6
    ISSN 1422-0067 ; 1422-0067 ; 1661-6596
    ISSN (online) 1422-0067
    ISSN 1422-0067 ; 1661-6596
    DOI 10.3390/ijms231810375
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Transcriptomic Analyses of Brains of RBM8A Conditional Knockout Mice at Different Developmental Stages Reveal Conserved Signaling Pathways Contributing to Neurodevelopmental Diseases.

    McSweeney, Colleen / Chen, Miranda / Dong, Fengping / Sebastian, Aswathy / Reynolds, Derrick James / Mott, Jennifer / Pei, Zifei / Zou, Jizhong / Shi, Yongsheng / Mao, Yingwei

    International journal of molecular sciences

    2023  Volume 24, Issue 5

    Abstract: RNA-binding motif 8A (RBM8A) is a core component of the exon junction complex (EJC) that binds pre-mRNAs and regulates their splicing, transport, translation, and nonsense-mediated decay (NMD). Dysfunction in the core proteins has been linked to several ... ...

    Abstract RNA-binding motif 8A (RBM8A) is a core component of the exon junction complex (EJC) that binds pre-mRNAs and regulates their splicing, transport, translation, and nonsense-mediated decay (NMD). Dysfunction in the core proteins has been linked to several detriments in brain development and neuropsychiatric diseases. To understand the functional role of
    MeSH term(s) Animals ; Mice ; Mice, Knockout ; Transcriptome ; Brain/metabolism ; RNA-Binding Proteins/metabolism ; Signal Transduction
    Chemical Substances RNA-Binding Proteins ; RBM8A protein, mouse
    Language English
    Publishing date 2023-02-27
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2019364-6
    ISSN 1422-0067 ; 1422-0067 ; 1661-6596
    ISSN (online) 1422-0067
    ISSN 1422-0067 ; 1661-6596
    DOI 10.3390/ijms24054600
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article: Differential blood DNA methylation across Lewy body dementias.

    Nasamran, Chanond A / Sachan, Anubhav Nikunj Singh / Mott, Jennifer / Kuras, Yuliya I / Scherzer, Clemens R / Study, Harvard Biomarkers / Ricciardelli, Eugenia / Jepsen, Kristen / Edland, Steven D / Fisch, Kathleen M / Desplats, Paula

    Alzheimer's & dementia (Amsterdam, Netherlands)

    2021  Volume 13, Issue 1, Page(s) e12156

    Abstract: Introduction: Dementia with Lewy bodies (DLB) and Parkinson's disease dementia (PDD) are characterized by cognitive alterations, visual hallucinations, and motor impairment. Diagnosis is based on type and timing of clinical manifestations; however, ... ...

    Abstract Introduction: Dementia with Lewy bodies (DLB) and Parkinson's disease dementia (PDD) are characterized by cognitive alterations, visual hallucinations, and motor impairment. Diagnosis is based on type and timing of clinical manifestations; however, determination of clinical subtypes is challenging. The utility of blood DNA methylation as a biomarker for Lewy body disorders (LBD) is mostly unexplored.
    Methods: We performed a cross-sectional analysis of blood methylation in 42 DLB and 50 PDD cases applying linear models to compare groups and logistic least absolute shrinkage and selection operator regression to explore the discriminant power of methylation signals.
    Results: DLB blood shows differential methylation compared to PDD. Some methylation changes associate with core features of LBD. Sets of probes show high predictive value to discriminate between variants.
    Discussion: Our study is the first to explore LBD blood methylation. Despite overlapping clinical presentation, we detected differential epigenetic signatures that, if confirmed in independent cohorts, could be developed into useful biomarkers.
    Language English
    Publishing date 2021-02-20
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2832898-X
    ISSN 2352-8729
    ISSN 2352-8729
    DOI 10.1002/dad2.12156
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article: MicroRNA-101 Modulates Autophagy and Oligodendroglial Alpha-Synuclein Accumulation in Multiple System Atrophy.

    Valera, Elvira / Spencer, Brian / Mott, Jennifer / Trejo, Margarita / Adame, Anthony / Mante, Michael / Rockenstein, Edward / Troncoso, Juan C / Beach, Thomas G / Masliah, Eliezer / Desplats, Paula

    Frontiers in molecular neuroscience

    2017  Volume 10, Page(s) 329

    Abstract: Synucleinopathies, neurodegenerative disorders with alpha-synuclein (α-syn) accumulation, are the second leading cause of neurodegeneration in the elderly, however no effective disease-modifying alternatives exist for these diseases. Multiple system ... ...

    Abstract Synucleinopathies, neurodegenerative disorders with alpha-synuclein (α-syn) accumulation, are the second leading cause of neurodegeneration in the elderly, however no effective disease-modifying alternatives exist for these diseases. Multiple system atrophy (MSA) is a fatal synucleinopathy characterized by the accumulation of toxic aggregates of α-syn within oligodendroglial cells, leading to demyelination and neurodegeneration, and the reduction of this accumulation might halt the fast progression of MSA. In this sense, the involvement of microRNAs (miRNAs) in synucleinopathies is yet poorly understood, and the potential of manipulating miRNA levels as a therapeutic tool is underexplored. In this study, we analyzed the levels of miRNAs that regulate the expression of autophagy genes in MSA cases, and investigated the mechanistic correlates of miRNA dysregulation in
    Language English
    Publishing date 2017-10-17
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2452967-9
    ISSN 1662-5099
    ISSN 1662-5099
    DOI 10.3389/fnmol.2017.00329
    Database MEDical Literature Analysis and Retrieval System OnLINE

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