Biomolecular condensates at the nexus of cellular stress, protein aggregation disease and ageing

S Alberti, AA Hyman - Nature reviews Molecular cell biology, 2021 - nature.com
Biomolecular condensates are membraneless intracellular assemblies that often form via
liquid− liquid phase separation and have the ability to concentrate biopolymers. Research …

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 …

Cellular functions of the protein kinase ATM and their relevance to human disease

JH Lee, TT Paull - Nature Reviews Molecular Cell Biology, 2021 - nature.com
The protein kinase ataxia telangiectasia mutated (ATM) is a master regulator of double-
strand DNA break (DSB) signalling and stress responses. For three decades, ATM has been …

The expanding universe of PARP1-mediated molecular and therapeutic mechanisms

D Huang, WL Kraus - Molecular cell, 2022 - cell.com
ADP-ribosylation (ADPRylation) is a post-translational modification of proteins catalyzed by
ADP-ribosyl transferase (ART) enzymes, including nuclear PARPs (eg, PARP1 and PARP2) …

Genetics of amyotrophic lateral sclerosis: seeking therapeutic targets in the era of gene therapy

N Suzuki, A Nishiyama, H Warita, M Aoki - Journal of human genetics, 2023 - nature.com
Amyotrophic lateral sclerosis (ALS) is an intractable disease that causes respiratory failure
leading to mortality. The main locus of ALS is motor neurons. The success of antisense …

RGG/RG motif regions in RNA binding and phase separation

PA Chong, RM Vernon, JD Forman-Kay - Journal of molecular biology, 2018 - Elsevier
Abstract RGG/RG motifs are RNA binding segments found in many proteins that can partition
into membraneless organelles. They occur in the context of low-complexity disordered …

Mechanisms of DNA damage‐mediated neurotoxicity in neurodegenerative disease

G Welch, LH Tsai - EMBO reports, 2022 - embopress.org
Neurons are highly susceptible to DNA damage accumulation due to their large energy
requirements, elevated transcriptional activity, and long lifespan. While newer research has …

FUS-dependent liquid–liquid phase separation is important for DNA repair initiation

BR Levone, SC Lenzken, M Antonaci, A Maiser… - Journal of Cell …, 2021 - rupress.org
RNA-binding proteins (RBPs) are emerging as important effectors of the cellular DNA
damage response (DDR). The RBP FUS is implicated in RNA metabolism and DNA repair …

Liquid-liquid phase separation of TDP-43 and FUS in physiology and pathology of neurodegenerative diseases

JL Carey, L Guo - Frontiers in molecular biosciences, 2022 - frontiersin.org
Liquid-liquid phase separation of RNA-binding proteins mediates the formation of numerous
membraneless organelles with essential cellular function. However, aberrant phase …

Redox dysregulation as a driver for DNA damage and its relationship to neurodegenerative diseases

S Shadfar, S Parakh, MS Jamali, JD Atkin - Translational …, 2023 - Springer
Redox homeostasis refers to the balance between the production of reactive oxygen species
(ROS) as well as reactive nitrogen species (RNS), and their elimination by antioxidants. It is …