|
Amyotrophic Lateral Sclerosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
Using the C9ORF72 ALS/FTD paradigm, we further explore the efforts and different methods used to disentangle RNA vs.RAN toxicity.
|
31721251 |
2020 |
|
Amyotrophic Lateral Sclerosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
Repeat expansion in C9orf72 causes amyotrophic lateral sclerosis and frontotemporal lobar degeneration.
|
31642962 |
2020 |
|
Amyotrophic Lateral Sclerosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Most notably, TDP-43-expressing neuronal inclusions and C9orf72 mutations have emerged as the key pathological and genetic hallmarks, respectively, of ALS.
|
31726180 |
2020 |
|
Amyotrophic Lateral Sclerosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
Genome-wide synthetic lethal CRISPR screen identifies FIS1 as a genetic interactor of ALS-linked C9ORF72.
|
31843624 |
2020 |
|
Amyotrophic Lateral Sclerosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Of interest, (GGGGCC)<sub>>30</sub>-repeats within C9orf72 are associated with amyotrophic lateral sclerosis and frontotemporal dementia (ALS/FTD).
|
31837826 |
2020 |
|
Amyotrophic Lateral Sclerosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
We show that mutant astrocytes both recapitulate key aspects of C9orf72-related ALS pathology and, upon co-culture, cause motor neurons to undergo a progressive loss of action potential output due to decreases in the magnitude of voltage-activated Na<sup>+</sup> and K<sup>+</sup> currents.
|
31841614 |
2020 |
|
Amyotrophic Lateral Sclerosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
Aberrant RNA structure plays a central role in the molecular mechanisms guided by repeat RNAs in diseases like myotonic dystrophy (DM), C9orf72-linked amyotrophic lateral sclerosis (ALS) and fragile X tremor/ataxia syndrome (FXTAS).
|
31586349 |
2020 |
|
Frontotemporal Dementia With Motor Neuron Disease
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Hexanucleotide repeat expansions in the C9ORF72 gene have been shown to be responsible for both familial and sporadic frontotemporal dementia/amyotrophic lateral sclerosis.
|
31530427 |
2020 |
|
Amyotrophic Lateral Sclerosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Seventy-two asymptomatic individuals were enrolled in a prospective study of first-degree relatives of ALS and FTD patients carrying the c9orf72 hexanucleotide expansion.
|
31177556 |
2019 |
|
Amyotrophic Lateral Sclerosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
Thus, partial inhibition of the overactivated Ku80-dependent DNA repair pathway is a promising therapeutic approach in <i>C9ORF72-</i>ALS/FTD.
|
31019093 |
2019 |
|
Amyotrophic Lateral Sclerosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Repeat hexanucleotide expansions in the C9orf72 gene are a cause of familial frontotemporal dementia (FTD), amyotrophic lateral sclerosis (ALS), and the mixed phenotype, FTD-ALS.
|
31773397 |
2019 |
|
Amyotrophic Lateral Sclerosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A GGGGCC hexanucleotide repeat expansion in intron 1 of chromosome 9 open reading frame 72 (C9ORF72) gene is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia.
|
31266945 |
2019 |
|
Amyotrophic Lateral Sclerosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, we did not confirm a role of NIPA1 repeat length as a modifier of the C9orf72 ALS disease risk.
|
31286297 |
2019 |
|
Amyotrophic Lateral Sclerosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
An expanded GGGGCC hexanucleotide of more than 30 repeats (termed (G4C2)<sub>30+</sub>) within C9orf72 is the most prominent mutation in familial frontotemporal degeneration (FTD) and amyotrophic lateral sclerosis (ALS) (termed C9<sup>+</sup>).
|
31110321 |
2019 |
|
Amyotrophic Lateral Sclerosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A GGGGCC hexanucleotide repeat expansion in the C9ORF72 gene has been identified as the most common genetic cause of amyotrophic lateral sclerosis and frontotemporal dementia.
|
31582731 |
2019 |
|
Amyotrophic Lateral Sclerosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
As a result, 3K3A-APC treatment lowers C9ORF72 dipeptide repeat protein (DPR) levels, restores nuclear TDP-43 localization, and rescues the survival of both C9ORF72 and sporadic ALS iMNs.
|
31310593 |
2019 |
|
Amyotrophic Lateral Sclerosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
Our results highlight the importance of including Africans in genetic studies aimed at unravelling the genomic architecture in ALS and suggest pathogenetic mechanisms other than the C9orf72 expansion in black Africans with ALS.
|
31009932 |
2019 |
|
Amyotrophic Lateral Sclerosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Large expansions in C9orf72 (100s-1000s of units) are the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal degeneration (FTD).
|
31327044 |
2019 |
|
Amyotrophic Lateral Sclerosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
Decrease in right inferior frontal gyrus activity was a good discriminator of ALS patients from controls (AUROC = 0.77) and an excellent discriminator of C9ORF72 expansion-positive patients from controls (AUROC = 0.95).
|
30735860 |
2019 |
|
Amyotrophic Lateral Sclerosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Repeat expansion in the C9orf72 gene is the most common cause of the neurodegenerative disorder amyotrophic lateral sclerosis (C9-ALS) and is linked to the unconventional translation of five dipeptide-repeat polypeptides (DPRs).
|
30981631 |
2019 |
|
Amyotrophic Lateral Sclerosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
A (GGGGCC)<sub>n</sub> repeat expansion in C9orf72 gene is the major cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS).
|
30337192 |
2019 |
|
Amyotrophic Lateral Sclerosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
Our analysis supports the direct causal relation of the C9orf72 expansion in ALS and FTD.
|
31126629 |
2019 |
|
Amyotrophic Lateral Sclerosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
To the best of our knowledge, this is the first reported C9orf72-ALS patient with concurrent NMOSD.
|
31007077 |
2019 |
|
Amyotrophic Lateral Sclerosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
C9orf72-ALS astrocytes had no effect on endothelial cell P-gp expression and did not display increased glutamate secretion.
|
30974102 |
2019 |
|
Amyotrophic Lateral Sclerosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
Reduced stathmin-2 expression is found in neurons trans-differentiated from patient fibroblasts expressing an ALS-causing TDP-43 mutation, in motor cortex and spinal motor neurons from patients with sporadic ALS and familial ALS with GGGGCC repeat expansion in the C9orf72 gene, and in induced pluripotent stem cell (iPSC)-derived motor neurons depleted of TDP-43.
|
30643298 |
2019 |