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  • C9ORF72, implicated in amyt... C9ORF72, implicated in amytrophic lateral sclerosis and frontotemporal dementia, regulates endosomal trafficking
    Farg, Manal A; Sundaramoorthy, Vinod; Sultana, Jessica M ... Human molecular genetics, 07/2014, Volume: 23, Issue: 13
    Journal Article
    Peer reviewed
    Open access

    Intronic expansion of a hexanucleotide GGGGCC repeat in the chromosome 9 open reading frame 72 (C9ORF72) gene is the major cause of familial amyotrophic lateral sclerosis (ALS) and frontotemporal ...
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  • Mutations in FUS, an RNA Pr... Mutations in FUS, an RNA Processing Protein, Cause Familial Amyotrophic Lateral Sclerosis Type 6
    Vance, Caroline; Rogelj, Boris; Hortobágyi, Tibor ... Science, 02/2009, Volume: 323, Issue: 5918
    Journal Article
    Peer reviewed
    Open access

    Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease that is familial in 10% of cases. We have identified a missense mutation in the gene encoding fused in sarcoma (FUS) in a ...
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  • TDP-43 Mutations in Familia... TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis
    Sreedharan, Jemeen; Blair, Ian P; Tripathi, Vineeta B ... Science, 03/2008, Volume: 319, Issue: 5870
    Journal Article
    Peer reviewed
    Open access

    Amyotrophic lateral sclerosis (ALS) is a fatal motor neuron disorder characterized pathologically by ubiquitinated TAR DNA binding protein (TDP-43) inclusions. The function of TDP-43 in the nervous ...
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  • Oncogenic context shapes th... Oncogenic context shapes the fitness landscape of tumor suppression
    Blair, Lily M; Juan, Joseph M; Sebastian, Lafia ... Nature communications, 10/2023, Volume: 14, Issue: 1
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    Open access

    Tumors acquire alterations in oncogenes and tumor suppressor genes in an adaptive walk through the fitness landscape of tumorigenesis. However, the interactions between oncogenes and tumor suppressor ...
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  • Defects in optineurin- and ... Defects in optineurin- and myosin VI-mediated cellular trafficking in amyotrophic lateral sclerosis
    Sundaramoorthy, Vinod; Walker, Adam K; Tan, Vanessa ... Human molecular genetics, 07/2015, Volume: 24, Issue: 13
    Journal Article
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    Open access

    Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder primarily affecting motor neurons. Mutations in optineurin cause a small proportion of familial ALS cases, and wild-type (WT) ...
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  • Evaluating the role of the ... Evaluating the role of the FUS/TLS-related gene EWSR1 in amyotrophic lateral sclerosis
    COUTHOUIS, Julien; HART, Michael P; KIM, Cecilia E ... Human molecular genetics, 07/2012, Volume: 21, Issue: 13
    Journal Article
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    Open access

    Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease affecting motor neurons. Mutations in related RNA-binding proteins TDP-43, FUS/TLS and TAF15 have been connected to ALS. These ...
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  • The SOD1-mediated ALS pheno... The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration
    Opie-Martin, Sarah; Iacoangeli, Alfredo; Topp, Simon D ... Nature communications, 11/2022, Volume: 13, Issue: 1
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    Open access

    Superoxide dismutase (SOD1) gene variants may cause amyotrophic lateral sclerosis, some of which are associated with a distinct phenotype. Most studies assess limited variants or sample sizes. In ...
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  • Non-nuclear Pool of Splicin... Non-nuclear Pool of Splicing Factor SFPQ Regulates Axonal Transcripts Required for Normal Motor Development
    Thomas-Jinu, Swapna; Gordon, Patricia M.; Fielding, Triona ... Neuron, 04/2017, Volume: 94, Issue: 2
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    Open access

    Recent progress revealed the complexity of RNA processing and its association to human disorders. Here, we unveil a new facet of this complexity. Complete loss of function of the ubiquitous splicing ...
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  • Simultaneous Isolation of H... Simultaneous Isolation of High-Quality RNA and DNA From Postmortem Human Central Nervous System Tissues for Omics Studies
    Grima, Natalie; Henden, Lyndal; Watson, Owen ... Journal of neuropathology and experimental neurology, 01/2022, Volume: 81, Issue: 2
    Journal Article
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    Abstract Multi-omics approaches are increasingly being adopted to understand the complex networks underlying disease. The coisolation of high-quality nucleotides from affected tissues is paramount ...
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  • Pathogenic mutation in the ... Pathogenic mutation in the ALS/FTD gene, CCNF, causes elevated Lys48-linked ubiquitylation and defective autophagy
    Lee, Albert; Rayner, Stephanie L.; Gwee, Serene S. L. ... Cellular and molecular life sciences : CMLS, 01/2018, Volume: 75, Issue: 2
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    Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are fatal neurodegenerative disorders that have common molecular and pathogenic characteristics, such as aberrant accumulation ...
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