Results 31 to 40 of about 50,228 (212)
Translation of expanded CGG repeats in LRP12 associated oculopharyngodistal myopathy [PDF]
Acta Neuropathologica CommunicationsOculopharyngodistal myopathy (OPDM) is characterized by ptosis, ophthalmoparesis, dysphagia, and distal weakness. Myopathological features include rimmed vacuoles and intranuclear inclusions.
Chengcheng Li +6 more
doaj +2 more sources
eIF5 stimulates the CUG initiation of RAN translation of poly-GA dipeptide repeat protein (DPR) in C9orf72 FTLD/ALS [PDF]
Journal of Biological ChemistryShiho Gotoh, Kohji Mori, Yuzo Fujino
exaly +2 more sources
Zfp106 binds to G-quadruplex RNAs and inhibits RAN translation and formation of RNA foci caused by G4C2 repeats [PDF]
Proceedings of the National Academy of Sciences of the United States of AmericaBarbara Celona, Haifan Wu, Bobo Dang
exaly +2 more sources
Neurobiology of Disease, 2023 Neurodegeneration in Fragile X-associated tremor/ataxia syndrome (FXTAS) is caused by a CGG trinucleotide repeat expansion in the 5′ UTR of FMR1. Expanded CGG repeat RNAs form stable secondary structures, which in turn support repeat-associated non-AUG ...
Indranil Malik +6 more
doaj +1 more source
Drosophila as a Model of Unconventional Translation in Spinocerebellar Ataxia Type 3
Cells, 2022 RNA toxicity contributes to diseases caused by anomalous nucleotide repeat expansions. Recent work demonstrated RNA-based toxicity from repeat-associated, non-AUG-initiated translation (RAN translation).
Sean L. Johnson +7 more
doaj +1 more source
Scientific Reports, 2023 Nucleotide repeat expansion of GGGGCC (G4C2) in the non-coding region of C9orf72 is the most common genetic cause underlying amyotrophic lateral sclerosis and frontotemporal dementia. Transcripts harboring this repeat expansion undergo the translation of
Hayato Ito +6 more
doaj +1 more source
Relax, Don’t RAN Translate It [PDF]
Neuron, 2019 The (GGGGCC)n repeat expansion in C9orf72, which is the most common cause of frontotemporal dementia and amyotrophic lateral sclerosis, is translated through repeat-associated non-AUG (RAN) translation. In this issue of Neuron, Cheng et al. (2019) report that the helicase DDX3X, which unwinds (or relaxes) RNA, suppresses RAN translation and toxicity.
Wilson, Katherine M. +2 more
openaire +3 more sources
RAN Translation: Fragile X in the Running [PDF]
Neuron, 2013 In this issue of Neuron, Todd et al. (2013) reveal that noncanonical repeat associated non-AUG (RAN) translation occurs on nonexpanded (CGG)30-50 and premutation (CGG)59-160 repeats, associated with the FMR1 gene, suggesting that the polyglycine and polyalanine products might have natural and pathogenic roles.
Reddy, Kaalak, Pearson, Christopher E.
openaire +2 more sources
Repeat associated non-ATG translation initiation: one DNA, two transcripts, seven reading frames, potentially nine toxic entities! [PDF]
PLoS Genetics, 2011 Diseases associated with unstable repetitive elements in the DNA, RNA, and amino acids have consistently revealed scientific surprises. Most diseases are caused by expansions of trinucleotide repeats, which ultimately lead to diseases like Huntington's ...
Christopher E Pearson
doaj +1 more source
PLoS ONE, 2022 A number of neurologic diseases associated with expanded nucleotide repeats, including an inherited form of amyotrophic lateral sclerosis, have an unconventional form of translation called repeat-associated non-AUG (RAN) translation.
Alec C Gleason +4 more
doaj +2 more sources