Hallmarks of neurodegenerative diseases

DM Wilson, MR Cookson, L Van Den Bosch… - Cell, 2023 - cell.com
Decades of research have identified genetic factors and biochemical pathways involved in
neurodegenerative diseases (NDDs). We present evidence for the following eight hallmarks …

TDP-43 proteinopathies: a new wave of neurodegenerative diseases

EMJ De Boer, VK Orie, T Williams, MR Baker… - Journal of Neurology …, 2021 - jnnp.bmj.com
Inclusions of pathogenic deposits containing TAR DNA-binding protein 43 (TDP-43) are
evident in the brain and spinal cord of patients that present across a spectrum of …

Molecular mechanisms of TDP-43 misfolding and pathology in amyotrophic lateral sclerosis

A Prasad, V Bharathi, V Sivalingam… - Frontiers in molecular …, 2019 - frontiersin.org
TAR DNA binding protein 43 (TDP-43) is a versatile RNA/DNA binding protein involved in
RNA-related metabolism. Hyper-phosphorylated and ubiquitinated TDP-43 deposits act as …

Regulation of heat shock transcription factors and their roles in physiology and disease

R Gomez-Pastor, ET Burchfiel, DJ Thiele - Nature reviews Molecular …, 2018 - nature.com
The heat shock transcription factors (HSFs) were discovered over 30 years ago as direct
transcriptional activators of genes regulated by thermal stress, encoding heat shock …

The Hsp70/Hsp90 chaperone machinery in neurodegenerative diseases

RE Lackie, A Maciejewski, VG Ostapchenko… - Frontiers in …, 2017 - frontiersin.org
The accumulation of misfolded proteins in the human brain is one of the critical features of
many neurodegenerative diseases, including Alzheimer's disease (AD). Assembles of beta …

Heat-shock chaperone HSPB1 regulates cytoplasmic TDP-43 phase separation and liquid-to-gel transition

S Lu, J Hu, OA Arogundade, A Goginashvili… - Nature cell …, 2022 - nature.com
While acetylated, RNA-binding-deficient TDP-43 reversibly phase separates within nuclei
into complex droplets (anisosomes) comprised of TDP-43-containing liquid outer shells and …

Disruption of RNA metabolism in neurological diseases and emerging therapeutic interventions

JK Nussbacher, R Tabet, GW Yeo, C Lagier-Tourenne - Neuron, 2019 - cell.com
RNA binding proteins are critical to the maintenance of the transcriptome via controlled
regulation of RNA processing and transport. Alterations of these proteins impact multiple …

Protein interaction networks in neurodegenerative diseases: From physiological function to aggregation

G Calabrese, C Molzahn, T Mayor - Journal of Biological Chemistry, 2022 - ASBMB
The accumulation of protein inclusions is linked to many neurodegenerative diseases that
typically develop in older individuals, due to a combination of genetic and environmental …

Blood biomarkers in ALS: challenges, applications and novel frontiers

E Sturmey, A Malaspina - Acta Neurologica Scandinavica, 2022 - Wiley Online Library
Amyotrophic lateral sclerosis (ALS) is the most common motor neuron disease among
adults. With diagnosis reached relatively late into the disease process, extensive motor cell …

TDP-43 pathology: from noxious assembly to therapeutic removal

SS Keating, R San Gil, MEV Swanson, EL Scotter… - Progress in …, 2022 - Elsevier
Our understanding of amyotrophic lateral sclerosis and frontotemporal dementia has
advanced dramatically since the discovery of cytoplasmic TAR DNA-binding protein 43 (TDP …