List of works - Julien Couthouis

A yeast functional screen predicts new candidate ALS disease genes

scientific article published on 7 November 2011

Age-related loss of neural stem cell O-GlcNAc promotes a glial fate switch through STAT3 activation

scientific article published on 26 August 2020

CRISPR-Cas9 screens in human cells and primary neurons identify modifiers of C9ORF72 dipeptide-repeat-protein toxicity.

scientific article published on 5 March 2018

Congenital muscular dystrophy and generalized epilepsy caused by GMPPB mutations

scientific article

ERAD defects and the HFE-H63D variant are associated with increased risk of liver damages in Alpha 1-Antitrypsin Deficiency

scientific article

Exome sequencing identifies a DNAJB6 mutation in a family with dominantly-inherited limb-girdle muscular dystrophy

scientific article

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

scientific article published on 19 February 2015

Exome sequencing to identify de novo mutations in sporadic ALS trios

scientific article published on 26 May 2013

Genome-wide synthetic lethal CRISPR screen identifies FIS1 as a genetic interactor of ALS-linked C9ORF72

scientific article published on 13 December 2019

Knockout of reactive astrocyte activating factors slows disease progression in an ALS mouse model

scientific article published on 27 July 2020

LRRK2 modifies α-syn pathology and spread in mouse models and human neurons.

scientific article published on 29 March 2019

PINK1 Phosphorylates MIC60/Mitofilin to Control Structural Plasticity of Mitochondrial Crista Junctions

scientific article

Spt4 selectively regulates the expression of C9orf72 sense and antisense mutant transcripts

scientific article

Targeted exon capture and sequencing in sporadic amyotrophic lateral sclerosis

scientific article

The toxicity of an "artificial" amyloid is related to how it interacts with membranes.

scientific article published on 23 October 2010

These violent repeats have violent extends

Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly

scientific article published on 13 April 2019

List of works by Julien Couthouis

A yeast functional screen predicts new candidate ALS disease genes

Age-related loss of neural stem cell O-GlcNAc promotes a glial fate switch through STAT3 activation

CRISPR-Cas9 screens in human cells and primary neurons identify modifiers of C9ORF72 dipeptide-repeat-protein toxicity.

Congenital muscular dystrophy and generalized epilepsy caused by GMPPB mutations

ERAD defects and the HFE-H63D variant are associated with increased risk of liver damages in Alpha 1-Antitrypsin Deficiency

Exome sequencing identifies a DNAJB6 mutation in a family with dominantly-inherited limb-girdle muscular dystrophy

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

Exome sequencing to identify de novo mutations in sporadic ALS trios

Genome-wide synthetic lethal CRISPR screen identifies FIS1 as a genetic interactor of ALS-linked C9ORF72

Knockout of reactive astrocyte activating factors slows disease progression in an ALS mouse model

LRRK2 modifies α-syn pathology and spread in mouse models and human neurons.

PINK1 Phosphorylates MIC60/Mitofilin to Control Structural Plasticity of Mitochondrial Crista Junctions

Spt4 selectively regulates the expression of C9orf72 sense and antisense mutant transcripts

Targeted exon capture and sequencing in sporadic amyotrophic lateral sclerosis

The toxicity of an "artificial" amyloid is related to how it interacts with membranes.

These violent repeats have violent extends

Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly