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] 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 …
[HTML][HTML] ELAVL4, splicing, and glutamatergic dysfunction precede neuron loss in MAPT mutation cerebral organoids
Frontotemporal dementia (FTD) because of MAPT mutation causes pathological
accumulation of tau and glutamatergic cortical neuronal death by unknown mechanisms. We …
accumulation of tau and glutamatergic cortical neuronal death by unknown mechanisms. We …
C9ORF72: what it is, what it does, and why it matters
J Smeyers, EG Banchi, M Latouche - Frontiers in cellular …, 2021 - frontiersin.org
When the non-coding repeat expansion in the C9ORF72 gene was discovered to be the
most frequent cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis …
most frequent cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis …
[HTML][HTML] p53 is a central regulator driving neurodegeneration caused by C9orf72 poly (PR)
M Maor-Nof, Z Shipony, R Lopez-Gonzalez… - Cell, 2021 - cell.com
The most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal
dementia (FTD) is a GGGGCC repeat expansion in the C9orf72 gene. We developed a …
dementia (FTD) is a GGGGCC repeat expansion in the C9orf72 gene. We developed a …
[HTML][HTML] C9orf72 regulates energy homeostasis by stabilizing mitochondrial complex I assembly
The haploinsufficiency of C9orf72 is implicated in the most common forms of amyotrophic
lateral sclerosis (ALS) and frontotemporal dementia (FTD), but the full spectrum of C9orf72 …
lateral sclerosis (ALS) and frontotemporal dementia (FTD), but the full spectrum of C9orf72 …
Effect of ezogabine on cortical and spinal motor neuron excitability in amyotrophic lateral sclerosis: a randomized clinical trial
BJ Wainger, EA Macklin, S Vucic, CE McIlduff… - JAMA …, 2021 - jamanetwork.com
Importance Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease
of the motor nervous system. Clinical studies have demonstrated cortical and spinal motor …
of the motor nervous system. Clinical studies have demonstrated cortical and spinal motor …
Improved modeling of human AD with an automated culturing platform for iPSC neurons, astrocytes and microglia
R Bassil, K Shields, K Granger, I Zein, S Ng… - Nature …, 2021 - nature.com
Advancement in human induced pluripotent stem cell (iPSC) neuron and microglial
differentiation protocols allow for disease modeling using physiologically relevant cells …
differentiation protocols allow for disease modeling using physiologically relevant cells …
Cellular and physiological functions of C9ORF72 and implications for ALS/FTD
W Pang, F Hu - Journal of neurochemistry, 2021 - Wiley Online Library
The hexanucleotide repeat expansion (HRE) in the C9ORF72 gene is the main cause of two
tightly linked neurodegenerative diseases, amyotrophic lateral sclerosis (ALS) and …
tightly linked neurodegenerative diseases, amyotrophic lateral sclerosis (ALS) and …
Variant-selective stereopure oligonucleotides protect against pathologies associated with C9orf72-repeat expansion in preclinical models
Y Liu, JC Dodart, H Tran, S Berkovitch, M Braun… - Nature …, 2021 - nature.com
Abstract A large G4C2-repeat expansion in C9orf72 is the most common genetic cause of
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Neuronal …
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Neuronal …