[HTML][HTML] NUP62 localizes to ALS/FTLD pathological assemblies and contributes to TDP-43 insolubility

AM Gleixner, BM Verdone, CG Otte… - Nature …, 2022 - nature.com
Abstract A G4C2 hexanucleotide repeat expansion in the C9orf72 gene is the most common
genetic cause of ALS and FTLD (C9-ALS/FTLD) with cytoplasmic TDP-43 inclusions …

Cytoplasmic poly-GA aggregates impair nuclear import of TDP-43 in C9orf72 ALS/FTLD

B Khosravi, H Hartmann, S May, C Möhl… - Human molecular …, 2017 - academic.oup.com
A repeat expansion in the non-coding region of C9orf72 gene is the most common mutation
causing frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS) …

TDP-43 pathology disrupts nuclear pore complexes and nucleocytoplasmic transport in ALS/FTD

CC Chou, YI Zhang, ME Umoh, SW Vaughan… - Nature …, 2018 - nature.com
The cytoplasmic mislocalization and aggregation of TAR DNA-binding protein-43 (TDP-43)
is a common histopathological hallmark of the amyotrophic lateral sclerosis and …

Unraveling the impact of disrupted nucleocytoplasmic transport systems in C9orf72-associated ALS

P McGoldrick, J Robertson - Frontiers in Cellular Neuroscience, 2023 - frontiersin.org
Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are two adult-onset
neurodegenerative diseases that are part of a common disease spectrum due to clinical …

Sense-encoded poly-GR dipeptide repeat proteins correlate to neurodegeneration and uniquely co-localize with TDP-43 in dendrites of repeat-expanded C9orf72 …

S Saberi, JE Stauffer, J Jiang, SD Garcia, AE Taylor… - Acta …, 2018 - Springer
Hexanucleotide repeat expansions in C9orf72 are the most common genetic cause of
amyotrophic lateral sclerosis (C9 ALS). The main hypothesized pathogenic mechanisms are …

C9orf72 poly(GR) aggregation induces TDP-43 proteinopathy

CN Cook, Y Wu, HM Odeh, TF Gendron… - 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 …

Loss of TDP‐43 oligomerization or RNA binding elicits distinct aggregation patterns

M Pérez‐Berlanga, VI Wiersma, A Zbinden… - The EMBO …, 2023 - embopress.org
Aggregation of the RNA‐binding protein TAR DNA‐binding protein 43 (TDP‐43) is the key
neuropathological feature of neurodegenerative diseases, including amyotrophic lateral …

A feedback loop between dipeptide-repeat protein, TDP-43 and karyopherin-α mediates C9orf72-related neurodegeneration

DA Solomon, A Stepto, WH Au, Y Adachi, DC Diaper… - Brain, 2018 - academic.oup.com
Accumulation and aggregation of TDP-43 is a major pathological hallmark of amyotrophic
lateral sclerosis and frontotemporal dementia. TDP-43 inclusions also characterize patients …

[HTML][HTML] Microtubules deform the nuclear membrane and disrupt nucleocytoplasmic transport in tau-mediated frontotemporal dementia

F Paonessa, LD Evans, R Solanki, D Larrieu, S Wray… - Cell reports, 2019 - cell.com
The neuronal microtubule-associated protein tau, MAPT, is central to the pathogenesis of
many dementias. Autosomal-dominant mutations in MAPT cause inherited frontotemporal …

TDP-43 repression of nonconserved cryptic exons is compromised in ALS-FTD

JP Ling, O Pletnikova, JC Troncoso, PC Wong - Science, 2015 - science.org
Cytoplasmic aggregation of TDP-43, accompanied by its nuclear clearance, is a key
common pathological hallmark of amyotrophic lateral sclerosis and frontotemporal dementia …