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  1. Article

    Open Access

    Using mass spectrometry to validate mouse models of tauopathy

    Yan Yan, Casey N. Cook in Molecular Neurodegeneration (2023)

  2. Article

    Author Correction: Toxic expanded GGGGCC repeat transcription is mediated by the PAF1 complex in C9orf72-associated FTD

    Lindsey D. Goodman, Mercedes Prudencio, Nicholas J. Kramer in Nature Neuroscience (2023)

  3. Article

    Open Access

    Evidence of cerebellar TDP-43 loss of function in FTLD-TDP

    Frontotemporal lobar degeneration with TDP-43 pathology (FTLD-TDP) is a neurodegenerative disease primarily affecting the frontal and/or temporal cortices. However, a growing body of evidence suggests that the...

    Sarah Pickles, Tania F. Gendron, Yuka Koike in Acta Neuropathologica Communications (2022)

  4. Article

    Open Access

    TDP-43 represses cryptic exon inclusion in the FTD–ALS gene UNC13A

    A hallmark pathological feature of the neurodegenerative diseases amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) is the depletion of RNA-binding protein TDP-43 from the nucleus of neuron...

    X. Rosa Ma, Mercedes Prudencio, Yuka Koike, Sarat C. Vatsavayai, Garam Kim in Nature (2022)

  5. Article

    Open Access

    Clusterin ameliorates tau pathology in vivo by inhibiting fibril formation

    The molecular chaperone Clusterin (CLU) impacts the amyloid pathway in Alzheimer’s disease (AD) but its role in tau pathology is unknown. We observed CLU co-localization with tau aggregates in AD and primary t...

    Aleksandra M. Wojtas, Yari Carlomagno in Acta Neuropathologica Communications (2020)

  6. No Access

    Article

    Toxic expanded GGGGCC repeat transcription is mediated by the PAF1 complex in C9orf72-associated FTD

    An expanded GGGGCC hexanucleotide of more than 30 repeats (termed (G4C2)30+) within C9orf72 is the most prominent mutation in familial frontotemporal degeneration (FTD) and amyotrophic lateral sclerosis (ALS) (te...

    Lindsey D. Goodman, Mercedes Prudencio, Nicholas J. Kramer in Nature Neuroscience (2019)

  7. Article

    Open Access

    Tau exhibits unique seeding properties in globular glial tauopathy

    Tauopathies are neurodegenerative disorders characterized by aggregation of microtubule associated tau protein in neurons and glia. They are clinically and pathologically heterogeneous depending on the isoform...

    Dah-eun Chloe Chung, Yari Carlomagno, Casey N. Cook in Acta Neuropathologica Communications (2019)

  8. No Access

    Article

    Poly(GR) impairs protein translation and stress granule dynamics in C9orf72-associated frontotemporal dementia and amyotrophic lateral sclerosis

    The major genetic cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) is a C9orf72 G4C2 repeat expansion1,2. Proposed mechanisms by which the expansion causes c9FTD/ALS include toxicity...

    Yong-Jie Zhang, Tania F. Gendron, Mark T. W. Ebbert, Aliesha D. O’Raw in Nature Medicine (2018)

  9. Article

    Open Access

    Replication of progressive supranuclear palsy genome-wide association study identifies SLCO1A2 and DUSP10 as new susceptibility loci

    Progressive supranuclear palsy (PSP) is a parkinsonian neurodegenerative tauopathy affecting brain regions involved in motor function, including the basal ganglia, diencephalon and brainstem. While PSP is larg...

    Monica Y. Sanchez-Contreras, Naomi Kouri, Casey N. Cook in Molecular Neurodegeneration (2018)

  10. Article

    Open Access

    The lysosomal protein cathepsin L is a progranulin protease

    Haploinsufficiency of GRN, the gene encoding progranulin (PGRN), causes frontotemporal lobar degeneration (FTLD), the second most common cause of early-onset dementia. Receptor-mediated lysosomal targeting has...

    Chris W. Lee, Jeannette N. Stankowski, Jeannie Chew in Molecular Neurodegeneration (2017)

  11. Article

    Open Access

    An autoradiographic evaluation of AV-1451 Tau PET in dementia

    It is essential to determine the specificity of AV-1451 PET for tau in brain imaging by using pathological comparisons. We performed autoradiography in autopsy-confirmed Alzheimer disease and other neurodegene...

    Val J. Lowe, Geoffry Curran, ** Fang in Acta Neuropathologica Communications (2016)

  12. No Access

    Article

    Understanding Biomarkers of Neurodegeneration: Novel approaches to detecting tau pathology

    Tau pathology is commonly analyzed by positron emission tomography (PET) imaging. However, recently developed cell-based techniques for analyzing tau pathogenicity may also be used to measure an early biomarke...

    Casey N Cook, Melissa E Murray, Leonard Petrucelli in Nature Medicine (2015)