List of works - Clotilde Lagier-Tourenne

ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency

scientific article

AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders

scientific article

ALS-associated mutations in TDP-43 increase its stability and promote TDP-43 complexes with FUS/TLS.

scientific article

Animal models of neurodegenerative diseases

scientific article published on 24 September 2018

C9ORF72 poly(GA) aggregates sequester and impair HR23 and nucleocytoplasmic transport proteins

scientific article published on 21 March 2016

CUG initiation and frameshifting enable production of dipeptide repeat proteins from ALS/FTD C9ORF72 transcripts.

scientific article published on 11 January 2018

Cerebellar c9RAN proteins associate with clinical and neuropathological characteristics of C9ORF72 repeat expansion carriers

scientific article

Cytoplasmic FUS triggers early behavioral alterations linked to cortical neuronal hyperactivity and inhibitory synaptic defects

scientific article published on 21 May 2021

Direct conversion of patient fibroblasts demonstrates non-cell autonomous toxicity of astrocytes to motor neurons in familial and sporadic ALS

scientific article published on 30 December 2013

Divergent roles of ALS-linked proteins FUS/TLS and TDP-43 intersect in processing long pre-mRNAs

scientific article published on 30 September 2012

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

scientific article published on 19 February 2015

Exploring the effect of sequence length and composition on allele-selective inhibition of human huntingtin expression by single-stranded silencing RNAs

scientific article

FUS-mediated regulation of acetylcholine receptor transcription at neuromuscular junctions is compromised in amyotrophic lateral sclerosis

scientific article published on 07 October 2019

Homozygous mutation in SPATA16 is associated with male infertility in human globozoospermia

scientific article

Long pre-mRNA depletion and RNA missplicing contribute to neuronal vulnerability from loss of TDP-43.

scientific article

Misregulated RNA processing in amyotrophic lateral sclerosis ⬇️

scientific article published on 03 March 2012

Motor neuron intrinsic and extrinsic mechanisms contribute to the pathogenesis of FUS-associated amyotrophic lateral sclerosis

scientific article

Mutant Huntingtin promotes autonomous microglia activation via myeloid lineage-determining factors

scientific article

Novel clinical associations with specific C9ORF72 transcripts in patients with repeat expansions in C9ORF72.

scientific article

Nuclear pores: the gate to neurodegeneration.

scientific article

Premature polyadenylation-mediated loss of stathmin-2 is a hallmark of TDP-43-dependent neurodegeneration

scientific article published on 14 January 2019

RNA-binding proteins in neurodegeneration: Seq and you shall receive

scientific article

Reactive oxygen species, oxidative stress, and cell death correlate with level of CoQ10 deficiency

scientific article

Reduced C9ORF72 function exacerbates gain of toxicity from ALS/FTD-causing repeat expansion in C9orf72

scientific article published on 13 April 2020

Rethinking ALS: the FUS about TDP-43.

scientific article published on March 2009

TDP-43 and FUS/TLS: emerging roles in RNA processing and neurodegeneration

scientific article published on 15 April 2010

Targeted degradation of sense and antisense C9orf72 RNA foci as therapy for ALS and frontotemporal degeneration

scientific article published on 29 October 2013

The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone

scientific article

Toxic gain of function from mutant FUS protein is crucial to trigger cell autonomous motor neuron loss

scientific article published on 7 March 2016

List of works by Clotilde Lagier-Tourenne

ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency

AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders

ALS-associated mutations in TDP-43 increase its stability and promote TDP-43 complexes with FUS/TLS.

Animal models of neurodegenerative diseases

C9ORF72 poly(GA) aggregates sequester and impair HR23 and nucleocytoplasmic transport proteins

CUG initiation and frameshifting enable production of dipeptide repeat proteins from ALS/FTD C9ORF72 transcripts.

Cerebellar c9RAN proteins associate with clinical and neuropathological characteristics of C9ORF72 repeat expansion carriers

Cytoplasmic FUS triggers early behavioral alterations linked to cortical neuronal hyperactivity and inhibitory synaptic defects

Direct conversion of patient fibroblasts demonstrates non-cell autonomous toxicity of astrocytes to motor neurons in familial and sporadic ALS

Divergent roles of ALS-linked proteins FUS/TLS and TDP-43 intersect in processing long pre-mRNAs

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

Exploring the effect of sequence length and composition on allele-selective inhibition of human huntingtin expression by single-stranded silencing RNAs

FUS-mediated regulation of acetylcholine receptor transcription at neuromuscular junctions is compromised in amyotrophic lateral sclerosis

Homozygous mutation in SPATA16 is associated with male infertility in human globozoospermia

Long pre-mRNA depletion and RNA missplicing contribute to neuronal vulnerability from loss of TDP-43.

Misregulated RNA processing in amyotrophic lateral sclerosis ⬇️

Motor neuron intrinsic and extrinsic mechanisms contribute to the pathogenesis of FUS-associated amyotrophic lateral sclerosis

Mutant Huntingtin promotes autonomous microglia activation via myeloid lineage-determining factors

Novel clinical associations with specific C9ORF72 transcripts in patients with repeat expansions in C9ORF72.

Nuclear pores: the gate to neurodegeneration.

Premature polyadenylation-mediated loss of stathmin-2 is a hallmark of TDP-43-dependent neurodegeneration

RNA-binding proteins in neurodegeneration: Seq and you shall receive

Reactive oxygen species, oxidative stress, and cell death correlate with level of CoQ10 deficiency

Reduced C9ORF72 function exacerbates gain of toxicity from ALS/FTD-causing repeat expansion in C9orf72

Rethinking ALS: the FUS about TDP-43.

TDP-43 and FUS/TLS: emerging roles in RNA processing and neurodegeneration

Targeted degradation of sense and antisense C9orf72 RNA foci as therapy for ALS and frontotemporal degeneration

The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone

Toxic gain of function from mutant FUS protein is crucial to trigger cell autonomous motor neuron loss