Molecular mechanisms underlying nucleotide repeat expansion disorders

I Malik, CP Kelley, ET Wang, PK Todd - Nature reviews Molecular cell …, 2021 - nature.com
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 …

[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 …

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 …

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 …

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 …

Premature polyadenylation-mediated loss of stathmin-2 is a hallmark of TDP-43-dependent neurodegeneration

Z Melamed, J López-Erauskin, MW Baughn… - Nature …, 2019 - nature.com
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 …

ER stress and the unfolded protein response in neurodegeneration

C Hetz, S Saxena - Nature Reviews Neurology, 2017 - nature.com
The clinical manifestation of neurodegenerative diseases is initiated by the selective
alteration in the functionality of distinct neuronal populations. The pathology of many …

Haploinsufficiency leads to neurodegeneration in C9ORF72 ALS/FTD human induced motor neurons

Y Shi, S Lin, KA Staats, Y Li, WH Chang, ST Hung… - Nature medicine, 2018 - nature.com
An intronic GGGGCC repeat expansion in C9ORF72 is the most common cause of
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 …

Alternative polyadenylation of mRNA precursors

B Tian, JL Manley - Nature reviews Molecular cell biology, 2017 - nature.com
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 …