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 …
Decoding ALS: from genes to mechanism
Amyotrophic lateral sclerosis (ALS) is a progressive and uniformly fatal neurodegenerative
disease. A plethora of genetic factors have been identified that drive the degeneration of …
disease. A plethora of genetic factors have been identified that drive the degeneration of …
RNA phase transitions in repeat expansion disorders
A Jain, RD Vale - Nature, 2017 - nature.com
Expansions of short nucleotide repeats produce several neurological and neuromuscular
disorders including Huntington disease, muscular dystrophy, and amyotrophic lateral …
disorders including Huntington disease, muscular dystrophy, and amyotrophic lateral …
[HTML][HTML] Rescue of fragile X syndrome neurons by DNA methylation editing of the FMR1 gene
Fragile X syndrome (FXS), the most common genetic form of intellectual disability in males,
is caused by silencing of the FMR1 gene associated with hypermethylation of the CGG …
is caused by silencing of the FMR1 gene associated with hypermethylation of the CGG …
Non-AUG translation: a new start for protein synthesis in eukaryotes
Although it was long thought that eukaryotic translation almost always initiates at an AUG
start codon, recent advancements in ribosome footprint mapping have revealed that non …
start codon, recent advancements in ribosome footprint mapping have revealed that non …
The organizing principles of eukaryotic ribosome recruitment
J Pelletier, N Sonenberg - Annual review of biochemistry, 2019 - annualreviews.org
The stage at which ribosomes are recruited to messenger RNAs (mRNAs) is an elaborate
and highly regulated phase of protein synthesis. Upon completion of this step, a ribosome is …
and highly regulated phase of protein synthesis. Upon completion of this step, a ribosome is …
RAN translation at C9orf72-associated repeat expansions is selectively enhanced by the integrated stress response
Repeat-associated non-AUG (RAN) translation allows for unconventional initiation at
disease-causing repeat expansions. As RAN translation contributes to pathogenesis in …
disease-causing repeat expansions. As RAN translation contributes to pathogenesis in …
RNA G-quadruplexes: emerging mechanisms in disease
A Cammas, S Millevoi - Nucleic acids research, 2017 - academic.oup.com
Abstract RNA G-quadruplexes (G4s) are formed by G-rich RNA sequences in protein-coding
(mRNA) and non-coding (ncRNA) transcripts that fold into a four-stranded conformation …
(mRNA) and non-coding (ncRNA) transcripts that fold into a four-stranded conformation …
C9ORF72 GGGGCC repeat-associated non-AUG translation is upregulated by stress through eIF2α phosphorylation
Hexanucleotide repeat expansion in C9ORF72 is the most frequent cause of both
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Here we …
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Here we …
Non-AUG translation initiation in mammals
DE Andreev, G Loughran, AD Fedorova… - Genome Biology, 2022 - Springer
Recent proteogenomic studies revealed extensive translation outside of annotated protein
coding regions, such as non-coding RNAs and untranslated regions of mRNAs. This non …
coding regions, such as non-coding RNAs and untranslated regions of mRNAs. This non …