about
ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiencyRNA-binding proteins in neurodegeneration: Seq and you shall receiveThe gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperoneAHI1 gene mutations cause specific forms of Joubert syndrome-related disordersMotor neuron intrinsic and extrinsic mechanisms contribute to the pathogenesis of FUS-associated amyotrophic lateral sclerosis.Exploring the effect of sequence length and composition on allele-selective inhibition of human huntingtin expression by single-stranded silencing RNAsMutant Huntingtin promotes autonomous microglia activation via myeloid lineage-determining factorsALS-associated mutations in TDP-43 increase its stability and promote TDP-43 complexes with FUS/TLS.Reactive oxygen species, oxidative stress, and cell death correlate with level of CoQ10 deficiency.Long pre-mRNA depletion and RNA missplicing contribute to neuronal vulnerability from loss of TDP-43.Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways.Cerebellar c9RAN proteins associate with clinical and neuropathological characteristics of C9ORF72 repeat expansion carriers.Novel clinical associations with specific C9ORF72 transcripts in patients with repeat expansions in C9ORF72.Homozygous mutation in SPATA16 is associated with male infertility in human globozoospermiaDivergent roles of ALS-linked proteins FUS/TLS and TDP-43 intersect in processing long pre-mRNAs.Toxic gain of function from mutant FUS protein is crucial to trigger cell autonomous motor neuron loss.Misregulated RNA processing in amyotrophic lateral sclerosis.Targeted degradation of sense and antisense C9orf72 RNA foci as therapy for ALS and frontotemporal degeneration.Rethinking ALS: the FUS about TDP-43.C9ORF72 poly(GA) aggregates sequester and impair HR23 and nucleocytoplasmic transport proteins.Direct conversion of patient fibroblasts demonstrates non-cell autonomous toxicity of astrocytes to motor neurons in familial and sporadic ALSTDP-43 and FUS/TLS: emerging roles in RNA processing and neurodegeneration.
P50
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P50
description
onderzoeker
@nl
name
Clotilde Lagier-Tourenne
@ast
Clotilde Lagier-Tourenne
@en
Clotilde Lagier-Tourenne
@es
Clotilde Lagier-Tourenne
@sl
type
label
Clotilde Lagier-Tourenne
@ast
Clotilde Lagier-Tourenne
@en
Clotilde Lagier-Tourenne
@es
Clotilde Lagier-Tourenne
@sl
prefLabel
Clotilde Lagier-Tourenne
@ast
Clotilde Lagier-Tourenne
@en
Clotilde Lagier-Tourenne
@es
Clotilde Lagier-Tourenne
@sl