Pathomechanisms of TDP‐43 in neurodegeneration

J Gao, L Wang, ML Huntley, G Perry… - Journal of …, 2018 - Wiley Online Library
Neurodegeneration, a term that refers to the progressive loss of structure and function of
neurons, is a feature of many neurodegenerative diseases such as amyotrophic lateral …

[HTML][HTML] The role of hnRNPs in frontotemporal dementia and amyotrophic lateral sclerosis

A Bampton, LM Gittings, P Fratta, T Lashley… - Acta Neuropathologica, 2020 - Springer
Dysregulated RNA metabolism is emerging as a crucially important mechanism
underpinning the pathogenesis of frontotemporal dementia (FTD) and the clinically …

[HTML][HTML] TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A

AL Brown, OG Wilkins, MJ Keuss, SE Hill, M Zanovello… - Nature, 2022 - nature.com
Variants of UNC13A, a critical gene for synapse function, increase the risk of amyotrophic
lateral sclerosis and frontotemporal dementia,–, two related neurodegenerative diseases …

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

S Seddighi, YA Qi, AL Brown, OG Wilkins… - 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 …

Premature polyadenylation-mediated loss of stathmin-2 is a hallmark of TDP-43-dependent neurodegeneration

Z Melamed, J López-Erauskin, MW Baughn… - Nature …, 2019 - nature.com
Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are associated with
loss of nuclear transactive response DNA-binding protein 43 (TDP-43). Here we identify that …

ALS-implicated protein TDP-43 sustains levels of STMN2, a mediator of motor neuron growth and repair

JR Klim, LA Williams, F Limone… - Nature …, 2019 - nature.com
The findings that amyotrophic lateral sclerosis (ALS) patients almost universally display
pathological mislocalization of the RNA-binding protein TDP-43 and that mutations in its …

[HTML][HTML] Truncated stathmin-2 is a marker of TDP-43 pathology in frontotemporal dementia

M Prudencio, J Humphrey, S Pickles… - The Journal of …, 2020 - Am Soc Clin Investig
No treatment for frontotemporal dementia (FTD), the second most common type of early-
onset dementia, is available, but therapeutics are being investigated to target the 2 main …

[HTML][HTML] Functional and dynamic polymerization of the ALS-linked protein TDP-43 antagonizes its pathologic aggregation

T Afroz, EM Hock, P Ernst, C Foglieni… - Nature …, 2017 - nature.com
TDP-43 is a primarily nuclear RNA-binding protein, whose abnormal phosphorylation and
cytoplasmic aggregation characterizes affected neurons in patients with amyotrophic lateral …

[HTML][HTML] TDP-43-regulated cryptic RNAs accumulate in Alzheimer's disease brains

V Estades Ayuso, S Pickles, T Todd, M Yue… - Molecular …, 2023 - Springer
Abstract Background Inclusions of TAR DNA-binding protein 43 kDa (TDP-43) has been
designated limbic-predominant, age-related TDP-43 encephalopathy (LATE), with or without …

[HTML][HTML] Cryptic exon detection and transcriptomic changes revealed in single-nuclei RNA sequencing of C9ORF72 patients spanning the ALS-FTD spectrum

LM Gittings, EB Alsop, J Antone, M Singer… - Acta …, 2023 - Springer
The C9ORF72-linked diseases amyotrophic lateral sclerosis (ALS) and frontotemporal
dementia (FTD) are characterized by the nuclear depletion and cytoplasmic accumulation of …