Glucose hypometabolism prompts RAN translation and exacerbates C9orf72-related ALS/FTD phenotypes [PDF]
EMBO Reports, 2023 The most prevalent genetic cause of both amyotrophic lateral sclerosis and frontotemporal dementia is a (GGGGCC)n nucleotide repeat expansion (NRE) occurring in the first intron of the C9orf72 gene (C9).
Andrew T Nelson +10 more
doaj +6 more sources
Mapping of repeat-associated non-AUG (RAN) translation knowledge: A bibliometric analysis [PDF]
HeliyonOver 50 genetic human disorders are attributed to the irregular expansion of microsatellites. These expanded microsatellite sequences can experience bidirectional transcription, leading to new reading frames.
Taiqi Zhao +7 more
doaj +6 more sources
Repeat Associated Non-AUG Translation (RAN Translation) Dependent on Sequence Downstream of the ATXN2 CAG Repeat. [PDF]
PLoS ONE, 2015 Spinocerebellar ataxia type 2 (SCA2) is a progressive autosomal dominant disorder caused by the expansion of a CAG tract in the ATXN2 gene. The SCA2 disease phenotype is characterized by cerebellar atrophy, gait ataxia, and slow saccades.
Daniel R Scoles +6 more
doaj +6 more sources
RAN translation at C9orf72-associated repeat expansions is selectively enhanced by the integrated stress response [PDF]
Nature Communications, 2017 A nucleotide repeat expansion in C9orf72 is a common genetic cause of neurodegenerative disorders. Here, the authors provide insight into the molecular mechanism by which this repeat undergoes Repeat-Associated Non-AUG (RAN) translation, implicating the ...
Katelyn M. Green +8 more
doaj +7 more sources
Between Order and Chaos: Understanding the Mechanism and Pathology of RAN Translation [PDF]
Biological and Pharmaceutical Bulletin, 2023 Repeat-associated non-AUG (RAN) translation is a pathogenic mechanism in which repetitive sequences are translated into aggregation-prone proteins from multiple reading frames, even without a canonical AUG start codon. Since its discovery in spinocerebellar ataxia type 8 (SCA8) and myotonic dystrophy type 1 (DM1), RAN translation is now known to occur ...
Katsura Asano
exaly +4 more sources
m6A Modulates RAN Translation From CAG Repeat Expansion RNA [PDF]
AggregateNucleotide repeat expansions contribute to the development of a number of neurodegenerative diseases. Recent studies revealed that DNA sequences with CAG and other nucleotide repeat expansions can undergo bidirectional transcription, and the ensuing ...
Yuxiang Sun +3 more
doaj +5 more sources
SRSF protein kinase 1 modulates RAN translation and suppresses CGG repeat toxicity [PDF]
EMBO Molecular Medicine, 2021 Transcribed CGG repeat expansions cause neurodegeneration in Fragile X‐associated tremor/ataxia syndrome (FXTAS). CGG repeat RNAs sequester RNA‐binding proteins (RBPs) into nuclear foci and undergo repeat‐associated non‐AUG (RAN) translation into toxic ...
Indranil Malik +6 more
doaj +5 more sources
Repeat-associated non-ATG (RAN) translation [PDF]
Journal of Biological Chemistry, 2018 Microsatellite expansions cause more than 40 neurological disorders, including Huntington's disease, myotonic dystrophy, and C9ORF72 amyotrophic lateral sclerosis/frontotemporal dementia (ALS/FTD). These repeat expansion mutations can produce repeat-associated non-ATG (RAN) proteins in all three reading frames, which accumulate in disease-relevant ...
Laura P W Ranum
exaly +5 more sources
Neuropathology of RAN translation proteins in fragile X-associated tremor/ataxia syndrome [PDF]
Acta Neuropathologica Communications, 2019 CGG repeat expansions in FMR1 cause the neurodegenerative disorder Fragile X-associated Tremor/Ataxia Syndrome (FXTAS). Ubiquitinated neuronal intranuclear inclusions (NIIs) are the neuropathological hallmark of FXTAS.
Amy Krans +4 more
doaj +6 more sources
RAN translation—What makes it run? [PDF]
Brain Research, 2016 Nucleotide-repeat expansions underlie a heterogeneous group of neurodegenerative and neuromuscular disorders for which there are currently no effective therapies. Recently, it was discovered that such repetitive RNA motifs can support translation initiation in the absence of an AUG start codon across a wide variety of sequence contexts, and that the ...
Katelyn M Green, Peter K Todd
exaly +5 more sources