TARDBP mutation analysis in TDP-43 proteinopathies and deciphering the toxicity of mutant TDP-43

TF Gendron, R Rademakers… - Journal of Alzheimer's …, 2013 - content.iospress.com
The identification of TAR DNA-binding protein 43 (TDP-43) as the major disease protein in
amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration with ubiquitin …

Regulation of TDP-43 phosphorylation in aging and disease

RJ Eck, BC Kraemer, NF Liachko - Geroscience, 2021 - Springer
Insoluble inclusions of phosphorylated TDP-43 occur in disease-affected neurons of most
patients with amyotrophic lateral sclerosis (ALS) and about half of patients with …

Recapitulation of pathological TDP-43 features in immortalized lymphocytes from sporadic ALS patients

D Posa, L Martínez-González, F Bartolomé… - Molecular …, 2019 - Springer
Amyotrophic lateral sclerosis (ALS) is a fatal progressive neurodegenerative disorder of still
unknown etiology that results in loss of motoneurons, paralysis, and death, usually between …

TDP-43: a novel neurodegenerative proteinopathy

MS Forman, JQ Trojanowski, VMY Lee - Current opinion in neurobiology, 2007 - Elsevier
Over the past decade, it has become clear that there is a significant overlap in the clinical
spectrum of frontotemporal lobar degeneration and amyotrophic lateral sclerosis (ALS). The …

Neuron loss and degeneration in the progression of TDP-43 in frontotemporal lobar degeneration

A Yousef, JL Robinson, DJ Irwin, MD Byrne… - Acta neuropathologica …, 2017 - Springer
Frontotemporal lobar degeneration with TDP-43 inclusions (FTLD-TDP) is associated with
the accumulation of pathological neuronal and glial intracytoplasmic inclusions as well as …

The molecular links between TDP‐43 dysfunction and neurodegeneration

E Buratti, FE Baralle - Advances in genetics, 2009 - Elsevier
TDP-43 nuclear protein is involved in several major neurodegenerative diseases that
include frontotemporal lobar degeneration with ubiquitin (FTLD-U) bodies and amyotrophic …

[HTML][HTML] TDP-43 proteinopathy and ALS: insights into disease mechanisms and therapeutic targets

EL Scotter, HJ Chen, CE Shaw - Neurotherapeutics, 2015 - Elsevier
Therapeutic options for patients with amyotrophic lateral sclerosis (ALS) are currently
limited. However, recent studies show that almost all cases of ALS, as well as tau-negative …

Distinct TDP-43 inclusion morphologies in frontotemporal lobar degeneration with and without amyotrophic lateral sclerosis

RH Tan, Y Yang, WS Kim, C Dobson-Stone… - Acta neuropathologica …, 2017 - Springer
The identification of the TAR DNA-binding protein 43 (TDP-43) as the ubiquitinated
cytoplasmic inclusions in frontotemporal lobar degeneration (FTLD) and amyotrophic lateral …

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 …

Molecular dissection of TDP-43 proteinopathies

M Hasegawa, T Nonaka, H Tsuji, A Tamaoka… - Journal of Molecular …, 2011 - Springer
TDP-43 has been identified as a major component of ubiquitin-positive tau-negative
cytoplasmic inclusions in frontotemporal lobar degeneration with ubiquitin-positive …