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 …
CRISPR-based functional genomics for neurological disease
M Kampmann - Nature Reviews Neurology, 2020 - nature.com
Neurodegenerative, neurodevelopmental and neuropsychiatric disorders are among the
greatest public health challenges, as many lack disease-modifying treatments. A major …
greatest public health challenges, as many lack disease-modifying treatments. A major …
[HTML][HTML] Trans effects on gene expression can drive omnigenic inheritance
Early genome-wide association studies (GWASs) led to the surprising discovery that, for
typical complex traits, most of the heritability is due to huge numbers of common variants …
typical complex traits, most of the heritability is due to huge numbers of common variants …
[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 …
PIKFYVE inhibition mitigates disease in models of diverse forms of ALS
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease that results from
many diverse genetic causes. Although therapeutics specifically targeting known causal …
many diverse genetic causes. Although therapeutics specifically targeting known causal …
Heterochromatin anomalies and double-stranded RNA accumulation underlie C9orf72 poly(PR) toxicity
INTRODUCTION Frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS)
are fatal neurodegenerative diseases that share clinical and neuropathological features …
are fatal neurodegenerative diseases that share clinical and neuropathological features …
Regulators of mitonuclear balance link mitochondrial metabolism to mtDNA expression
Mitochondrial oxidative phosphorylation (OXPHOS) complexes are assembled from proteins
encoded by both nuclear and mitochondrial DNA. These dual-origin enzymes pose a …
encoded by both nuclear and mitochondrial DNA. These dual-origin enzymes pose a …
[HTML][HTML] C9ORF72 GGGGCC repeat-associated non-AUG translation is upregulated by stress through eIF2α phosphorylation
Hexanucleotide repeat expansion in C9ORF72 is the most frequent cause of both
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Here we …
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Here we …
[HTML][HTML] Mapping information-rich genotype-phenotype landscapes with genome-scale Perturb-seq
A central goal of genetics is to define the relationships between genotypes and phenotypes.
High-content phenotypic screens such as Perturb-seq (CRISPR-based screens with single …
High-content phenotypic screens such as Perturb-seq (CRISPR-based screens with single …
[HTML][HTML] Advances of zebrafish in neurodegenerative disease: from models to drug discovery
X Wang, JB Zhang, KJ He, F Wang… - Frontiers in Pharmacology, 2021 - frontiersin.org
Neurodegenerative disease (NDD), including Alzheimer's disease, Parkinson's disease, and
amyotrophic lateral sclerosis, are characterized by the progressive loss of neurons which …
amyotrophic lateral sclerosis, are characterized by the progressive loss of neurons which …