The role of retrotransposable elements in ageing and age-associated diseases
The genomes of virtually all organisms contain repetitive sequences that are generated by
the activity of transposable elements (transposons). Transposons are mobile genetic …
the activity of transposable elements (transposons). Transposons are mobile genetic …
ALS genetics: gains, losses, and implications for future therapies
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder caused by the loss
of motor neurons from the brain and spinal cord. The ALS community has made remarkable …
of motor neurons from the brain and spinal cord. The ALS community has made remarkable …
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 …
TDP-43 represses cryptic exon inclusion in the FTD–ALS gene UNC13A
A hallmark pathological feature of the neurodegenerative diseases amyotrophic lateral
sclerosis (ALS) and frontotemporal dementia (FTD) is the depletion of RNA-binding protein …
sclerosis (ALS) and frontotemporal dementia (FTD) is the depletion of RNA-binding protein …
Mis-spliced transcripts generate de novo proteins in TDP-43–related ALS/FTD
Functional loss of TDP-43, an RNA binding protein genetically and pathologically linked to
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), leads to the …
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), leads to the …
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 …
[HTML][HTML] Resurrection of endogenous retroviruses during aging reinforces senescence
Whether and how certain transposable elements with viral origins, such as endogenous
retroviruses (ERVs) dormant in our genomes, can become awakened and contribute to the …
retroviruses (ERVs) dormant in our genomes, can become awakened and contribute to the …
TDP-43 pathology in Alzheimer's disease
Transactive response DNA binding protein of 43 kDa (TDP-43) is an intranuclear protein
encoded by the TARDBP gene that is involved in RNA splicing, trafficking, stabilization, and …
encoded by the TARDBP gene that is involved in RNA splicing, trafficking, stabilization, and …
The era of cryptic exons: implications for ALS-FTD
TDP-43 is an RNA-binding protein with a crucial nuclear role in splicing, and mislocalises
from the nucleus to the cytoplasm in a range of neurodegenerative disorders. TDP-43 …
from the nucleus to the cytoplasm in a range of neurodegenerative disorders. TDP-43 …
Postmortem cortex samples identify distinct molecular subtypes of ALS: retrotransposon activation, oxidative stress, and activated glia
OH Tam, NV Rozhkov, R Shaw, D Kim, I Hubbard… - Cell reports, 2019 - cell.com
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized by
the progressive loss of motor neurons. While several pathogenic mutations have been …
the progressive loss of motor neurons. While several pathogenic mutations have been …