The molecular basis of translation initiation and its regulation in eukaryotes
J Brito Querido, I Díaz-López… - Nature Reviews Molecular …, 2024 - nature.com
The regulation of gene expression is fundamental for life. Whereas the role of transcriptional
regulation of gene expression has been studied for several decades, it has been clear over …
regulation of gene expression has been studied for several decades, it has been clear over …
Molecular mechanisms underlying nucleotide repeat expansion disorders
The human genome contains over one million short tandem repeats. Expansion of a subset
of these repeat tracts underlies over fifty human disorders, including common genetic …
of these repeat tracts underlies over fifty human disorders, including common genetic …
C9orf72-mediated ALS and FTD: multiple pathways to disease
R Balendra, AM Isaacs - Nature Reviews Neurology, 2018 - nature.com
The discovery that repeat expansions in the C9orf72 gene are a frequent cause of
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) has revolutionized …
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) has revolutionized …
Nearly 30 years of animal models to study amyotrophic lateral sclerosis: a historical overview and future perspectives
T Bonifacino, RA Zerbo, M Balbi, C Torazza… - International journal of …, 2021 - mdpi.com
Amyotrophic lateral sclerosis (ALS) is a fatal, multigenic, multifactorial, and non-cell
autonomous neurodegenerative disease characterized by upper and lower motor neuron …
autonomous neurodegenerative disease characterized by upper and lower motor neuron …
C9orf72 poly (PR) dipeptide repeats disturb biomolecular phase separation and disrupt nucleolar function
Repeat expansion in the C9orf72 gene is the most common cause of the neurodegenerative
disorder amyotrophic lateral sclerosis (C9-ALS) and is linked to the unconventional …
disorder amyotrophic lateral sclerosis (C9-ALS) and is linked to the unconventional …
Single-molecule imaging reveals distinct elongation and frameshifting dynamics between frames of expanded RNA repeats in C9ORF72-ALS/FTD
C9ORF72 hexanucleotide repeat expansion is the most common genetic cause of both
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). One pathogenic …
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). One pathogenic …
Reduced autophagy upon C9ORF72 loss synergizes with dipeptide repeat protein toxicity in G4C2 repeat expansion disorders
M Boivin, V Pfister, A Gaucherot, F Ruffenach… - The EMBO …, 2020 - embopress.org
Expansion of G4C2 repeats within the C9ORF72 gene is the most common cause of
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Such repeats lead …
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Such repeats lead …
Aberrant deposition of stress granule-resident proteins linked to C9orf72-associated TDP-43 proteinopathy
J Chew, C Cook, TF Gendron, K Jansen-West… - Molecular …, 2019 - Springer
Background AG 4 C 2 hexanucleotide repeat expansion in the noncoding region of C9orf72
is the major genetic cause of frontotemporal dementia and amyotrophic lateral sclerosis …
is the major genetic cause of frontotemporal dementia and amyotrophic lateral sclerosis …
CRISPR-Cas9 screens identify the RNA helicase DDX3X as a repressor of C9ORF72 (GGGGCC) n repeat-associated non-AUG translation
Hexanucleotide GGGGCC repeat expansion in C9ORF72 is the most prevalent genetic
cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). One …
cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). One …
Genetic convergence brings clarity to the enigmatic red line in ALS
C Cook, L Petrucelli - Neuron, 2019 - cell.com
Amyotrophic lateral sclerosis (ALS) is an aggressive neurodegenerative disorder that
orchestrates an attack on the motor nervous system that is unrelenting. Recent discoveries …
orchestrates an attack on the motor nervous system that is unrelenting. Recent discoveries …