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 …
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 …
of patients with Amyotrophic Lateral Sclerosis (ALS), TAR DNA Binding Protein 43 kDa (TDP …
Mechanism of STMN2 cryptic splice-polyadenylation and its correction for TDP-43 proteinopathies
Loss of nuclear TDP-43 is a hallmark of neurodegeneration in TDP-43 proteinopathies,
including amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). TDP-43 …
including amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). TDP-43 …
Alternative splicing as a regulator of development and tissue identity
FE Baralle, J Giudice - Nature reviews Molecular cell biology, 2017 - nature.com
Alternative splicing of eukaryotic transcripts is a mechanism that enables cells to generate
vast protein diversity from a limited number of genes. The mechanisms and outcomes of …
vast protein diversity from a limited number of genes. The mechanisms and outcomes of …
Triad of TDP43 control in neurodegeneration: autoregulation, localization and aggregation
P Tziortzouda, L Van Den Bosch, F Hirth - Nature Reviews …, 2021 - nature.com
Cytoplasmic aggregation of TAR DNA-binding protein 43 (TDP43; also known as TARDBP
or TDP-43) is a key pathological feature of several neurodegenerative diseases, including …
or TDP-43) is a key pathological feature of several neurodegenerative diseases, including …
[HTML][HTML] Lysosome dysfunction as a cause of neurodegenerative diseases: Lessons from frontotemporal dementia and amyotrophic lateral sclerosis
Frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) are fatal
neurodegenerative disorders that are thought to exist on a clinical and pathological …
neurodegenerative disorders that are thought to exist on a clinical and pathological …
Converging mechanisms in ALS and FTD: disrupted RNA and protein homeostasis
Breakthrough discoveries identifying common genetic causes for amyotrophic lateral
sclerosis (ALS) and frontotemporal dementia (FTD) have transformed our view of these …
sclerosis (ALS) and frontotemporal dementia (FTD) have transformed our view of these …
Physiological functions and pathobiology of TDP‐43 and FUS/TLS proteins
The multiple roles played by RNA binding proteins in neurodegeneration have become
apparent following the discovery of TAR DNA binding protein 43 kDa (TDP‐43) and fused in …
apparent following the discovery of TAR DNA binding protein 43 kDa (TDP‐43) and fused in …
Disease‐linked TDP‐43 hyperphosphorylation suppresses TDP‐43 condensation and aggregation
LA Gruijs da Silva, F Simonetti, S Hutten… - The EMBO …, 2022 - embopress.org
Post‐translational modifications (PTMs) have emerged as key modulators of protein phase
separation and have been linked to protein aggregation in neurodegenerative disorders …
separation and have been linked to protein aggregation in neurodegenerative disorders …
TDP-43 induces mitochondrial damage and activates the mitochondrial unfolded protein response
Mutations in or dys-regulation of the TDP-43 gene have been associated with TDP-43
proteinopathy, a spectrum of neurodegenerative diseases including Frontotemporal Lobar …
proteinopathy, a spectrum of neurodegenerative diseases including Frontotemporal Lobar …