Amyotrophic lateral sclerosis: a neurodegenerative disorder poised for successful therapeutic translation
Amyotrophic lateral sclerosis (ALS) is a devastating disease caused by degeneration of
motor neurons. As with all major neurodegenerative disorders, development of disease …
motor neurons. As with all major neurodegenerative disorders, development of disease …
Protein phase separation: a new phase in cell biology
Cellular compartments and organelles organize biological matter. Most well-known
organelles are separated by a membrane boundary from their surrounding milieu. There are …
organelles are separated by a membrane boundary from their surrounding milieu. There are …
Molecular mechanisms underlying nucleotide repeat expansion disorders
The human genome contains over one million short tandem repeats. Expansion of a subset
of these repeat tracts underlies over fifty human disorders, including common genetic …
of these repeat tracts underlies over fifty human disorders, including common genetic …
C9orf72-mediated ALS and FTD: multiple pathways to disease
R Balendra, AM Isaacs - Nature Reviews Neurology, 2018 - nature.com
The discovery that repeat expansions in the C9orf72 gene are a frequent cause of
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) has revolutionized …
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) has revolutionized …
The role of TDP-43 mislocalization in amyotrophic lateral sclerosis
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 …
Phase separation of C9orf72 dipeptide repeats perturbs stress granule dynamics
S Boeynaems, E Bogaert, D Kovacs, A Konijnenberg… - Molecular cell, 2017 - cell.com
Liquid-liquid phase separation (LLPS) of RNA-binding proteins plays an important role in
the formation of multiple membrane-less organelles involved in RNA metabolism, including …
the formation of multiple membrane-less organelles involved in RNA metabolism, including …
Gain of toxicity from ALS/FTD-linked repeat expansions in C9ORF72 is alleviated by antisense oligonucleotides targeting GGGGCC-containing RNAs
Hexanucleotide expansions in C9ORF72 are the most frequent genetic cause of
amyotrophic lateral sclerosis and frontotemporal dementia. Disease mechanisms were …
amyotrophic lateral sclerosis and frontotemporal dementia. Disease mechanisms were …
Triad of TDP43 control in neurodegeneration: autoregulation, localization and aggregation
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] Stress granule assembly disrupts nucleocytoplasmic transport
Defects in nucleocytoplasmic transport have been identified as a key pathogenic event in
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) mediated by a …
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) mediated by a …
Poly (GR) in C9ORF72-related ALS/FTD compromises mitochondrial function and increases oxidative stress and DNA damage in iPSC-derived motor neurons
GGGGCC repeat expansions in C9ORF72 are the most common genetic cause of both ALS
and FTD. To uncover underlying pathogenic mechanisms, we found that DNA damage was …
and FTD. To uncover underlying pathogenic mechanisms, we found that DNA damage was …