[HTML][HTML] ALS genetics, mechanisms, and therapeutics: where are we now?
The scientific landscape surrounding amyotrophic lateral sclerosis (ALS) continues to shift
as the number of genes associated with the disease risk and pathogenesis, and the cellular …
as the number of genes associated with the disease risk and pathogenesis, and the cellular …
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 …
evident in the brain and spinal cord of patients that present across a spectrum of …
Deciphering how naturally occurring sequence features impact the phase behaviours of disordered prion-like domains
A Bremer, M Farag, WM Borcherds, I Peran… - Nature …, 2022 - nature.com
Prion-like low-complexity domains (PLCDs) have distinctive sequence grammars that
determine their driving forces for phase separation. Here we uncover the physicochemical …
determine their driving forces for phase separation. Here we uncover the physicochemical …
[HTML][HTML] 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 …
properties of RNA-binding proteins (RBPs). However, the role of RBP condensation in the …
[HTML][HTML] 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 …
RNA-related metabolism. Hyper-phosphorylated and ubiquitinated TDP-43 deposits act as …
[HTML][HTML] R-loop-dependent promoter-proximal termination ensures genome stability
C Xu, C Li, J Chen, Y Xiong, Z Qiao, P Fan, C Li, S Ma… - Nature, 2023 - nature.com
The proper regulation of transcription is essential for maintaining genome integrity and
executing other downstream cellular functions,. Here we identify a stable association …
executing other downstream cellular functions,. Here we identify a stable association …
[HTML][HTML] The molecular language of membraneless organelles
Eukaryotic cells organize their intracellular components into organelles that can be
membrane-bound or membraneless. A large number of membraneless organelles, including …
membrane-bound or membraneless. A large number of membraneless organelles, including …
RNA packaging into extracellular vesicles: An orchestra of RNA‐binding proteins?
Extracellular vesicles (EVs) are heterogeneous membranous particles released from the
cells through different biogenetic and secretory mechanisms. We now conceive EVs as …
cells through different biogenetic and secretory mechanisms. We now conceive EVs as …
FUS and TDP-43 phases in health and disease
The distinct prion-like domains (PrLDs) of FUS and TDP-43, modulate phase transitions that
result in condensates with a range of material states. These assemblies are implicated in …
result in condensates with a range of material states. These assemblies are implicated in …
A synergy between site-specific and transient interactions drives the phase separation of a disordered, low-complexity domain
TAR DNA-binding protein 43 (TDP-43) is involved in key processes in RNA metabolism and
is frequently implicated in many neurodegenerative diseases, including amyotrophic lateral …
is frequently implicated in many neurodegenerative diseases, including amyotrophic lateral …