User profiles for Julien Couthouis
 | Julien COUTHOUISUltragenyx Pharmaceutical Verified email at ultragenyx.com Cited by 3828 |
Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways
…, PC Sapp, PA Dion, CS Leblond, J Couthouis… - Science, 2015 - science.org
Amyotrophic lateral sclerosis (ALS) is a devastating neurological disease with no effective
treatment. We report the results of a moderate-scale sequencing study aimed at increasing the …
treatment. We report the results of a moderate-scale sequencing study aimed at increasing the …
A yeast functional screen predicts new candidate ALS disease genes
Amyotrophic lateral sclerosis (ALS) is a devastating and universally fatal neurodegenerative
disease. Mutations in two related RNA-binding proteins, TDP-43 and FUS, that harbor prion-…
disease. Mutations in two related RNA-binding proteins, TDP-43 and FUS, that harbor prion-…
[HTML][HTML] Knockout of reactive astrocyte activating factors slows disease progression in an ALS mouse model
…, MK Weigel, DI Adler, J Couthouis… - Nature …, 2020 - nature.com
Reactive astrocytes have been implicated in the pathogenesis of neurodegenerative diseases,
including a non-cell autonomous effect on motor neuron survival in ALS. We previously …
including a non-cell autonomous effect on motor neuron survival in ALS. We previously …
Evaluating the role of the FUS/TLS-related gene EWSR1 in amyotrophic lateral sclerosis
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease affecting motor
neurons. Mutations in related RNA-binding proteins TDP-43, FUS/TLS and TAF15 have been …
neurons. Mutations in related RNA-binding proteins TDP-43, FUS/TLS and TAF15 have been …
[HTML][HTML] Platelet factors attenuate inflammation and rescue cognition in ageing
…, LK Smith, K Encabo, I Tenggara, J Couthouis… - Nature, 2023 - nature.com
Identifying therapeutics to delay, and potentially reverse, age-related cognitive decline is
critical in light of the increased incidence of dementia-related disorders forecasted in the …
critical in light of the increased incidence of dementia-related disorders forecasted in the …
CRISPR–Cas9 screens in human cells and primary neurons identify modifiers of C9ORF72 dipeptide-repeat-protein toxicity
Hexanucleotide-repeat expansions in the C9ORF72 gene are the most common cause of
amyotrophic lateral sclerosis and frontotemporal dementia (c9ALS/FTD). The nucleotide-…
amyotrophic lateral sclerosis and frontotemporal dementia (c9ALS/FTD). The nucleotide-…
[HTML][HTML] LRRK2 modifies α-syn pathology and spread in mouse models and human neurons
Progressive aggregation of the protein alpha-synuclein (α-syn) and loss of dopaminergic
neurons in the substantia nigra pars compacta (SNpc) are key histopathological hallmarks of …
neurons in the substantia nigra pars compacta (SNpc) are key histopathological hallmarks of …
[PDF][PDF] p53 is a central regulator driving neurodegeneration caused by C9orf72 poly (PR)
…, L Nakayama, YJ Zhang, J Couthouis… - 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 …
Exome sequencing to identify de novo mutations in sporadic ALS trios
Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disease whose
causes are still poorly understood. To identify additional genetic risk factors, we assessed the …
causes are still poorly understood. To identify additional genetic risk factors, we assessed the …
Spt4 selectively regulates the expression of C9orf72 sense and antisense mutant transcripts
An expanded hexanucleotide repeat in C9orf72 causes amyotrophic lateral sclerosis and
frontotemporal dementia (c9FTD/ALS). Therapeutics are being developed to target RNAs …
frontotemporal dementia (c9FTD/ALS). Therapeutics are being developed to target RNAs …