The role of TDP-43 mislocalization in amyotrophic lateral sclerosis

TR Suk, MWC Rousseaux - Molecular neurodegeneration, 2020 - Springer
Since its discovery as a primary component in cytoplasmic aggregates in post-mortem tissue
of patients with Amyotrophic Lateral Sclerosis (ALS), TAR DNA Binding Protein 43 kDa (TDP …

Macroautophagy in CNS health and disease

CJ Griffey, A Yamamoto - Nature Reviews Neuroscience, 2022 - nature.com
Macroautophagy is an evolutionarily conserved process that delivers diverse cellular
contents to lysosomes for degradation. As our understanding of this pathway grows, so does …

TDP-43 forms amyloid filaments with a distinct fold in type A FTLD-TDP

D Arseni, R Chen, AG Murzin, SY Peak-Chew… - Nature, 2023 - nature.com
The abnormal assembly of TAR DNA-binding protein 43 (TDP-43) in neuronal and glial cells
characterizes nearly all cases of amyotrophic lateral sclerosis (ALS) and around half of …

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 …

RNA-binding proteins with prion-like domains in health and disease

AF Harrison, J Shorter - Biochemical Journal, 2017 - portlandpress.com
Approximately 70 human RNA-binding proteins (RBPs) contain a prion-like domain (PrLD).
PrLDs are low-complexity domains that possess a similar amino acid composition to prion …

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 …

Converging mechanisms in ALS and FTD: disrupted RNA and protein homeostasis

SC Ling, M Polymenidou, DW Cleveland - Neuron, 2013 - cell.com
Breakthrough discoveries identifying common genetic causes for amyotrophic lateral
sclerosis (ALS) and frontotemporal dementia (FTD) have transformed our view of these …

Molecular neuropathology of frontotemporal dementia: insights into disease mechanisms from postmortem studies

IRA Mackenzie, M Neumann - Journal of neurochemistry, 2016 - Wiley Online Library
Frontotemporal dementia (FTD) is a clinical syndrome with a heterogeneous molecular
basis. The past decade has seen the discovery of several new FTD‐causing genetic …

Protein aggregation in amyotrophic lateral sclerosis

AM Blokhuis, EJN Groen, M Koppers… - Acta …, 2013 - Springer
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by the
aggregation of ubiquitinated proteins in affected motor neurons. Recent studies have …

Lost in transportation: nucleocytoplasmic transport defects in ALS and other neurodegenerative diseases

HJ Kim, JP Taylor - Neuron, 2017 - cell.com
Amyotrophic lateral sclerosis (ALS) is a progressive, fatal neurodegenerative disease
characterized by degeneration of upper and lower motor neurons in the brain and spinal …