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 …
RNA toxicity in non‐coding repeat expansion disorders
B Swinnen, W Robberecht, L Van Den Bosch - The EMBO journal, 2020 - embopress.org
Several neurodegenerative disorders like amyotrophic lateral sclerosis (ALS) and
spinocerebellar ataxia (SCA) are caused by non‐coding nucleotide repeat expansions …
spinocerebellar ataxia (SCA) are caused by non‐coding nucleotide repeat expansions …
Physical exercise is a risk factor for amyotrophic lateral sclerosis: Convergent evidence from Mendelian randomisation, transcriptomics and risk genotypes
Background Amyotrophic lateral sclerosis (ALS) is a universally fatal neurodegenerative
disease. ALS is determined by gene-environment interactions and improved understanding …
disease. ALS is determined by gene-environment interactions and improved understanding …
Sequestration of multiple RNA recognition motif-containing proteins by C9orf72 repeat expansions
J Cooper-Knock, MJ Walsh, A Higginbottom… - Brain, 2014 - academic.oup.com
GGGGCC repeat expansions of C9orf72 represent the most common genetic variant of
amyotrophic lateral sclerosis and frontotemporal degeneration, but the mechanism of …
amyotrophic lateral sclerosis and frontotemporal degeneration, but the mechanism of …
Emerging mechanisms of molecular pathology in ALS
Amyotrophic lateral sclerosis (ALS) is a devastating degenerative disease characterized by
progressive loss of motor neurons in the motor cortex, brainstem, and spinal cord. Although …
progressive loss of motor neurons in the motor cortex, brainstem, and spinal cord. Although …
C9orf72 hypermethylation protects against repeat expansion-associated pathology in ALS/FTD
Hexanucleotide repeat expansions of C9orf72 are the most common genetic cause of
amyotrophic lateral sclerosis and frontotemporal degeneration. The mutation is associated …
amyotrophic lateral sclerosis and frontotemporal degeneration. The mutation is associated …
The widening spectrum of C9ORF72-related disease; genotype/phenotype correlations and potential modifiers of clinical phenotype
Abstract The GGGGCC (G 4 C 2) repeat expansion in C9ORF72 is the most common cause
of familial amyotrophic lateral sclerosis (ALS), frontotemporal lobar dementia (FTLD) and …
of familial amyotrophic lateral sclerosis (ALS), frontotemporal lobar dementia (FTLD) and …
The C9orf72 repeat expansion itself is methylated in ALS and FTLD patients
Z Xi, M Zhang, AC Bruni, RG Maletta, R Colao… - Acta …, 2015 - Springer
The most common cause of both amyotrophic lateral sclerosis (ALS) and frontotemporal
lobar degeneration (FTLD) is a G 4 C 2-repeat expansion in C9orf72. However, the lower …
lobar degeneration (FTLD) is a G 4 C 2-repeat expansion in C9orf72. However, the lower …
C9orf72 loss-of-function: a trivial, stand-alone or additive mechanism in C9 ALS/FTD?
A repeat expansion in C9orf72 is responsible for the characteristic neurodegeneration in
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) in a still unresolved …
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) in a still unresolved …
Extensive size variability of the GGGGCC expansion in C9orf72 in both neuronal and non-neuronal tissues in 18 patients with ALS or FTD
A Nordin, C Akimoto, A Wuolikainen… - Human molecular …, 2015 - academic.oup.com
A GGGGCC-repeat expansion in C9orf72 is the most common genetic cause of amyotrophic
lateral sclerosis (ALS) and frontotemporal dementia (FTD) among Caucasians. However …
lateral sclerosis (ALS) and frontotemporal dementia (FTD) among Caucasians. However …