Triad of TDP43 control in neurodegeneration: autoregulation, localization and aggregation

P Tziortzouda, L Van Den Bosch, F Hirth - Nature Reviews …, 2021 - nature.com
Cytoplasmic aggregation of TAR DNA-binding protein 43 (TDP43; also known as TARDBP
or TDP-43) is a key pathological feature of several neurodegenerative diseases, including …

[HTML][HTML] Lysosome dysfunction as a cause of neurodegenerative diseases: Lessons from frontotemporal dementia and amyotrophic lateral sclerosis

J Root, P Merino, A Nuckols, M Johnson… - Neurobiology of disease, 2021 - Elsevier
Frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) are fatal
neurodegenerative disorders that are thought to exist on a clinical and pathological …

Mechanism of STMN2 cryptic splice-polyadenylation and its correction for TDP-43 proteinopathies

MW Baughn, Z Melamed, J López-Erauskin… - Science, 2023 - science.org
Loss of nuclear TDP-43 is a hallmark of neurodegeneration in TDP-43 proteinopathies,
including amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). TDP-43 …

ALS mutations disrupt phase separation mediated by α-helical structure in the TDP-43 low-complexity C-terminal domain

AE Conicella, GH Zerze, J Mittal, NL Fawzi - Structure, 2016 - cell.com
RNA-binding protein TDP-43 mediates essential RNA processing but forms cytoplasmic
neuronal inclusions via its C-terminal domain (CTD) in amyotrophic lateral sclerosis (ALS). It …

A single N‐terminal phosphomimic disrupts TDP‐43 polymerization, phase separation, and RNA splicing

A Wang, AE Conicella, HB Schmidt, EW Martin… - The EMBO …, 2018 - embopress.org
TDP‐43 is an RNA‐binding protein active in splicing that concentrates into membraneless
ribonucleoprotein granules and forms aggregates in amyotrophic lateral sclerosis (ALS) and …

Motor neuron disease-associated loss of nuclear TDP-43 is linked to DNA double-strand break repair defects

J Mitra, EN Guerrero, PM Hegde… - Proceedings of the …, 2019 - National Acad Sciences
Genome damage and their defective repair have been etiologically linked to degenerating
neurons in many subtypes of amyotrophic lateral sclerosis (ALS) patients; however, the …

Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

M Neumann, DM Sampathu, LK Kwong, AC Truax… - Science, 2006 - science.org
Ubiquitin-positive, tau-and α-synuclein–negative inclusions are hallmarks of frontotemporal
lobar degeneration with ubiquitin-positive inclusions and amyotrophic lateral sclerosis …

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 …

Gains or losses: molecular mechanisms of TDP43-mediated neurodegeneration

EB Lee, VMY Lee, JQ Trojanowski - Nature Reviews Neuroscience, 2012 - nature.com
RNA-binding proteins, and in particular TAR DNA-binding protein 43 (TDP43), are central to
the pathogenesis of motor neuron diseases and related neurodegenerative disorders …

TDP-43 and FUS/TLS: emerging roles in RNA processing and neurodegeneration

C Lagier-Tourenne, M Polymenidou… - Human molecular …, 2010 - academic.oup.com
Amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) are
neurodegenerative diseases with clinical and pathological overlap. Landmark discoveries of …