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

…, L Ganser, JD Rubien, K Jansen-West, CN Cook… - Nature, 2022 - nature.com
A hallmark pathological feature of the neurodegenerative diseases amyotrophic lateral
sclerosis (ALS) and frontotemporal dementia (FTD) is the depletion of RNA-binding protein TDP-…

[HTML][HTML] An autoradiographic evaluation of AV-1451 Tau PET in dementia

…, DS Knopman, DT Jones, L Petrucelli, CN Cook… - Acta neuropathologica …, 2016 - Springer
Background 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 …

[PDF][PDF] Posttranslational modifications mediate the structural diversity of tauopathy strains

…, D Williams, M DeTure, DW Dickson, CN Cook… - Cell, 2020 - cell.com
Tau aggregation into insoluble filaments is the defining pathological hallmark of tauopathies.
However, it is not known what controls the formation and templated seeding of strain-…

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

…, J Tong, Y Song, SR Pickles, M Castanedes-Casey… - Nature medicine, 2018 - nature.com
The major genetic cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis
(ALS) is a C9orf72 G 4 C 2 repeat expansion 1 , 2 . Proposed mechanisms by which the …

Mis-spliced transcripts generate de novo proteins in TDP-43–related ALS/FTD

…, JF Reyes, VH Ryan, MP Nelson, CN Cook… - Science Translational …, 2024 - science.org
Functional loss of TDP-43, an RNA binding protein genetically and pathologically linked to
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), leads to the inclusion …

[PDF][PDF] Homotypic fibrillization of TMEM106B across diverse neurodegenerative diseases

…, LM Forgrave, M DeTure, ML DeMarco, CN Cook… - Cell, 2022 - cell.com
Misfolding and aggregation of disease-specific proteins, resulting in the formation of
filamentous cellular inclusions, is a hallmark of neurodegenerative disease with characteristic …

C9orf72 poly(GR) aggregation induces TDP-43 proteinopathy

…, NM Avendano, M Castanedes-Casey… - Science translational …, 2020 - science.org
TAR DNA-binding protein 43 (TDP-43) inclusions are a pathological hallmark of frontotemporal
dementia (FTD) and amyotrophic lateral sclerosis (ALS), including cases caused by G 4 …

Two FTD-ALS genes converge on the endosomal pathway to induce TDP-43 pathology and degeneration

…, J Park, Y Koike, A Kurti, M Yue, M Castanedes-Casey… - Science, 2022 - science.org
Frontotemporal dementia and amyotrophic lateral sclerosis (FTD-ALS) are associated with
both a repeat expansion in the C9orf72 gene and mutations in the TANK-binding kinase 1 (…

Serum neurofilament light protein correlates with unfavorable clinical outcomes in hospitalized patients with COVID-19

…, LJ White, JA Dunmore, CN Cook… - Science translational …, 2021 - science.org
Brain imaging studies of patients with COVID-19 show evidence of macro- and microhemorrhagic
lesions, multifocal white matter hyperintensities, and lesions consistent with posterior …

Spt4 selectively regulates the expression of C9orf72 sense and antisense mutant transcripts

…, Y Carlomagno, YJ Zhang, S Almeida, CN Cook… - Science, 2016 - science.org
An expanded hexanucleotide repeat in C9orf72 causes amyotrophic lateral sclerosis and
frontotemporal dementia (c9FTD/ALS). Therapeutics are being developed to target RNAs …