Liquid–liquid phase separation in human health and diseases

B Wang, L Zhang, T Dai, Z Qin, H Lu, L Zhang… - … and Targeted Therapy, 2021 - nature.com
Emerging evidence suggests that liquid–liquid phase separation (LLPS) represents a vital
and ubiquitous phenomenon underlying the formation of membraneless organelles in …

RNA-binding proteins in human genetic disease

F Gebauer, T Schwarzl, J Valcárcel… - Nature Reviews …, 2021 - nature.com
RNA-binding proteins (RBPs) are critical effectors of gene expression, and as such their
malfunction underlies the origin of many diseases. RBPs can recognize hundreds of …

[PDF][PDF] 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 …

[PDF][PDF] ALS genetics: gains, losses, and implications for future therapies

G Kim, O Gautier, E Tassoni-Tsuchida, XR Ma… - Neuron, 2020 - cell.com
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder caused by the loss
of motor neurons from the brain and spinal cord. The ALS community has made remarkable …

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 …

Tau activates microglia via the PQBP1-cGAS-STING pathway to promote brain inflammation

M Jin, H Shiwaku, H Tanaka, T Obita, S Ohuchi… - Nature …, 2021 - nature.com
Brain inflammation generally accompanies and accelerates neurodegeneration. Here we
report a microglial mechanism in which polyglutamine binding protein 1 (PQBP1) senses …

[PDF][PDF] Phase separation of FUS is suppressed by its nuclear import receptor and arginine methylation

M Hofweber, S Hutten, B Bourgeois, E Spreitzer… - Cell, 2018 - cell.com
Cytoplasmic FUS aggregates are a pathological hallmark in a subset of patients with
frontotemporal dementia (FTD) or amyotrophic lateral sclerosis (ALS). A key step that is …

Liquid-liquid phase separation in biology: mechanisms, physiological functions and human diseases

H Zhang, X Ji, P Li, C Liu, J Lou, Z Wang… - Science China Life …, 2020 - Springer
Cells are compartmentalized by numerous membrane-enclosed organelles and
membraneless compartments to ensure that a wide variety of cellular activities occur in a …

[PDF][PDF] Cytoplasmic TDP-43 de-mixing independent of stress granules drives inhibition of nuclear import, loss of nuclear TDP-43, and cell death

F Gasset-Rosa, S Lu, H Yu, C Chen, Z Melamed, L Guo… - Neuron, 2019 - cell.com
While cytoplasmic aggregation of TDP-43 is a pathological hallmark of amyotrophic lateral
sclerosis and frontotemporal dementia, how aggregates form and what drives its nuclear …

Distinct stages in stress granule assembly and disassembly

JR Wheeler, T Matheny, S Jain, R Abrisch, R Parker - elife, 2016 - elifesciences.org
Stress granules are non-membrane bound RNA-protein (RNP) assemblies that form when
translation initiation is limited and contain a biphasic structure with stable core structures …