[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 …

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 …

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 …

Molecular Dissection of TDP-43 as a Leading Cause of ALS/FTLD

Y Tamaki, M Urushitani - International journal of molecular sciences, 2022 - mdpi.com
TAR DNA binding protein 43 (TDP-43) is a DNA/RNA binding protein involved in pivotal
cellular functions, especially in RNA metabolism. Hyperphosphorylated and ubiquitinated …

The impact of dysregulated microRNA biogenesis machinery and microRNA sorting on neurodegenerative diseases

YT Weng, YM Chang, Y Chern - International Journal of Molecular …, 2023 - mdpi.com
MicroRNAs (miRNAs) are 22-nucleotide noncoding RNAs involved in the differentiation,
development, and function of cells in the body by targeting the 3′-untranslated regions …

The new missense G376V-TDP-43 variant induces late-onset distal myopathy but not amyotrophic lateral sclerosis

J Zibold, LER Lessard, F Picard, LG da Silva… - Brain, 2024 - academic.oup.com
TAR DNA binding protein of 43 kDa (TDP-43)-positive inclusions in neurons are a hallmark
of several neurodegenerative diseases including familial amyotrophic lateral sclerosis …

Evaluating the contribution of the gene TARDBP in Italian patients with amyotrophic lateral sclerosis

S Lattante, M Sabatelli, G Bisogni… - European Journal of …, 2023 - Wiley Online Library
Background and objectives Genetic variants in the gene TARDBP, encoding TDP‐43
protein, are associated with amyotrophic lateral sclerosis (ALS) in familial (fALS) and …

Mechanisms of TDP-43 proteinopathy onset and propagation

HJ Chen, JC Mitchell - International Journal of Molecular Sciences, 2021 - mdpi.com
TDP-43 is an RNA-binding protein that has been robustly linked to the pathogenesis of a
number of neurodegenerative disorders, including amyotrophic lateral sclerosis and …

Unraveling the Genetic Landscape of Neurological Disorders: Insights into Pathogenesis, Techniques for Variant Identification, and Therapeutic Approaches

Z Firdaus, X Li - International journal of molecular sciences, 2024 - mdpi.com
Genetic abnormalities play a crucial role in the development of neurodegenerative disorders
(NDDs). Genetic exploration has indeed contributed to unraveling the molecular …