[HTML][HTML] Phase separation and neurodegenerative diseases: a disturbance in the force

A Zbinden, M Pérez-Berlanga, P De Rossi… - Developmental cell, 2020 - cell.com
Protein aggregation is the main hallmark of neurodegenerative diseases. Many proteins
found in pathological inclusions are known to undergo liquid-liquid phase separation, a …

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 …

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 …

TDP-43 condensation properties specify its RNA-binding and regulatory repertoire

M Hallegger, AM Chakrabarti, FCY Lee, BL Lee… - Cell, 2021 - cell.com
Mutations causing amyotrophic lateral sclerosis (ALS) often affect the condensation
properties of RNA-binding proteins (RBPs). However, the role of RBP condensation in the …

HSP70 chaperones RNA-free TDP-43 into anisotropic intranuclear liquid spherical shells

H Yu, S Lu, K Gasior, D Singh, S Vazquez-Sanchez… - Science, 2021 - science.org
INTRODUCTION Aggregation of the RNA binding protein TDP-43 (TAR DNA-binding protein
43) is a common pathological hallmark shared by several age-related neurodegenerative …

Seeding the aggregation of TDP-43 requires post-fibrillization proteolytic cleavage

ST Kumar, S Nazarov, S Porta, N Maharjan… - Nature …, 2023 - nature.com
Despite the strong evidence linking the transactive response DNA-binding protein 43 (TDP-
43) aggregation to the pathogenesis of frontotemporal lobar degeneration with TDP-43 …

The role of TDP-43 propagation in neurodegenerative diseases: integrating insights from clinical and experimental studies

M Jo, S Lee, YM Jeon, S Kim, Y Kwon… - Experimental & molecular …, 2020 - nature.com
Abstract TAR DNA-binding protein 43 (TDP-43) is a highly conserved nuclear RNA/DNA-
binding protein involved in the regulation of RNA processing. The accumulation of TDP-43 …

TDP-43 α-helical structure tunes liquid–liquid phase separation and function

AE Conicella, GL Dignon, GH Zerze… - Proceedings of the …, 2020 - pnas.org
Liquid–liquid phase separation (LLPS) is involved in the formation of membraneless
organelles (MLOs) associated with RNA processing. The RNA-binding protein TDP-43 is …

Calcium permeable-AMPA receptors and excitotoxicity in neurological disorders

C Guo, YY Ma - Frontiers in neural circuits, 2021 - frontiersin.org
Excitotoxicity is one of the primary mechanisms of cell loss in a variety of diseases of the
central and peripheral nervous systems. Other than the previously established signaling …

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 …