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 …
[HTML][HTML] Role of microbiota-derived short-chain fatty acids in nervous system disorders
R Mirzaei, B Bouzari, SR Hosseini-Fard… - Biomedicine & …, 2021 - Elsevier
During the past decade, accumulating evidence from the research highlights the suggested
effects of bacterial communities of the human gut microbiota and their metabolites on health …
effects of bacterial communities of the human gut microbiota and their metabolites on health …
Integrative transcriptomic analysis of the amyotrophic lateral sclerosis spinal cord implicates glial activation and suggests new risk genes
J Humphrey, S Venkatesh, R Hasan, JT Herb… - Nature …, 2023 - nature.com
Amyotrophic lateral sclerosis (ALS) is a progressively fatal neurodegenerative disease
affecting motor neurons in the brain and spinal cord. In this study, we investigated gene …
affecting motor neurons in the brain and spinal cord. In this study, we investigated gene …
C9orf72 in myeloid cells suppresses STING-induced inflammation
ME McCauley, JG O'Rourke, A Yáñez, JL Markman… - Nature, 2020 - nature.com
Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are
neurodegenerative disorders that overlap in their clinical presentation, pathology and …
neurodegenerative disorders that overlap in their clinical presentation, pathology and …
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 …
Premature polyadenylation-mediated loss of stathmin-2 is a hallmark of TDP-43-dependent neurodegeneration
Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are associated with
loss of nuclear transactive response DNA-binding protein 43 (TDP-43). Here we identify that …
loss of nuclear transactive response DNA-binding protein 43 (TDP-43). Here we identify that …
ER stress and the unfolded protein response in neurodegeneration
The clinical manifestation of neurodegenerative diseases is initiated by the selective
alteration in the functionality of distinct neuronal populations. The pathology of many …
alteration in the functionality of distinct neuronal populations. The pathology of many …
Haploinsufficiency leads to neurodegeneration in C9ORF72 ALS/FTD human induced motor neurons
An intronic GGGGCC repeat expansion in C9ORF72 is the most common cause of
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), but the pathogenic …
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), but the pathogenic …
Human ALS/FTD brain organoid slice cultures display distinct early astrocyte and targetable neuronal pathology
K Szebényi, LMD Wenger, Y Sun, AWE Dunn… - Nature …, 2021 - nature.com
Amyotrophic lateral sclerosis overlapping with frontotemporal dementia (ALS/FTD) is a fatal
and currently untreatable disease characterized by rapid cognitive decline and paralysis …
and currently untreatable disease characterized by rapid cognitive decline and paralysis …
Alternative polyadenylation of mRNA precursors
Alternative polyadenylation (APA) is an RNA-processing mechanism that generates distinct
3′ termini on mRNAs and other RNA polymerase II transcripts. It is widespread across all …
3′ termini on mRNAs and other RNA polymerase II transcripts. It is widespread across all …