The role of hnRNPs in frontotemporal dementia and amyotrophic lateral sclerosis
Dysregulated RNA metabolism is emerging as a crucially important mechanism
underpinning the pathogenesis of frontotemporal dementia (FTD) and the clinically …
underpinning the pathogenesis of frontotemporal dementia (FTD) and the clinically …
Synaptic dysfunction in ALS and FTD: anatomical and molecular changes provide insights into mechanisms of disease
PA Gelon, PA Dutchak, CF Sephton - Frontiers in Molecular …, 2022 - frontiersin.org
Synaptic loss is a pathological feature of all neurodegenerative diseases including
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). ALS is a disease of …
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). ALS is a disease of …
TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A
Variants of UNC13A, a critical gene for synapse function, increase the risk of amyotrophic
lateral sclerosis and frontotemporal dementia,–, two related neurodegenerative diseases …
lateral sclerosis and frontotemporal dementia,–, two related neurodegenerative diseases …
Antisense oligonucleotide silencing of FUS expression as a therapeutic approach in amyotrophic lateral sclerosis
VA Korobeynikov, AK Lyashchenko… - Nature medicine, 2022 - nature.com
Fused in sarcoma (FUS) is an RNA-binding protein that is genetically and pathologically
associated with rare and aggressive forms of amyotrophic lateral sclerosis (ALS) and …
associated with rare and aggressive forms of amyotrophic lateral sclerosis (ALS) and …
[HTML][HTML] Gene architecture directs splicing outcome in separate nuclear spatial regions
How the splicing machinery defines exons or introns as the spliced unit has remained a
puzzle for 30 years. Here, we demonstrate that peripheral and central regions of the nucleus …
puzzle for 30 years. Here, we demonstrate that peripheral and central regions of the nucleus …
Aberrant interaction of FUS with the U1 snRNA provides a molecular mechanism of FUS induced amyotrophic lateral sclerosis
D Jutzi, S Campagne, R Schmidt, S Reber… - Nature …, 2020 - nature.com
Mutations in the RNA-binding protein Fused in Sarcoma (FUS) cause early-onset
amyotrophic lateral sclerosis (ALS). However, a detailed understanding of central RNA …
amyotrophic lateral sclerosis (ALS). However, a detailed understanding of central RNA …
G-quadruplexes control hepatitis B virus replication by promoting cccDNA transcription and phase separation in hepatocytes
G Giraud, M Rodà, P Huchon, M Michelet… - Nucleic Acids …, 2024 - academic.oup.com
Phase separation regulates fundamental processes in gene expression and is mediated by
the local concentration of proteins and nucleic acids, as well as nucleic acid secondary …
the local concentration of proteins and nucleic acids, as well as nucleic acid secondary …
FUS-ALS mutants alter FMRP phase separation equilibrium and impair protein translation
FUsed in Sarcoma (FUS) is a multifunctional RNA binding protein (RBP). FUS mutations
lead to its cytoplasmic mislocalization and cause the neurodegenerative disease …
lead to its cytoplasmic mislocalization and cause the neurodegenerative disease …
FUS alters circRNA metabolism in human motor neurons carrying the ALS-linked P525L mutation
A Colantoni, D Capauto, V Alfano, E D'Ambra… - International Journal of …, 2023 - mdpi.com
Deregulation of RNA metabolism has emerged as one of the key events leading to the
degeneration of motor neurons (MNs) in Amyotrophic Lateral Sclerosis (ALS) disease …
degeneration of motor neurons (MNs) in Amyotrophic Lateral Sclerosis (ALS) disease …
Widespread intron retention impairs protein homeostasis in C9orf72 ALS brains
The GGGGCC hexanucleotide expansion in C9orf72 (C9) is the most frequent known cause
of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), yet a clear …
of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), yet a clear …