Lista de obras - Clotilde Lagier-Tourenne

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

artículo científico publicado en 2008

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

artículo científico publicado en 2006

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

artículo científico publicado en 2010

Animal models of neurodegenerative diseases

artículo científico publicado en 2018

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

artículo científico publicado en 2016

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

artículo científico publicado en 2018

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

artículo científico publicado en 2015

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

artículo científico publicado en 2021

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

artículo científico publicado en 2013

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

artículo científico publicado en 2012

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

artículo científico publicado en 2015

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

artículo científico publicado en 2014

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

artículo científico publicado en 2019

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

artículo científico publicado en 2007

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

artículo científico publicado en 2011

Misregulated RNA processing in amyotrophic lateral sclerosis

artículo científico publicado en 2012

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

artículo científico publicado en 2017

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

artículo científico publicado en 2014

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

artículo científico publicado en 2015

Nuclear pores: the gate to neurodegeneration.

artículo científico publicado en 2018

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

artículo científico publicado en 2019

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

artículo científico publicado en 2015

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

artículo científico publicado en 2010

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.

artículo científico publicado en 2009

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

artículo científico publicado en 2010

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

artículo científico publicado en 2013

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

artículo científico publicado en 2005

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

artículo científico publicado en 2016

Lista de obras de 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