Repeat-associated non-ATG (RAN) translation in neurological disease. [PDF]
Hum Mol Genet, 2013 Well-established rules of translational initiation have been used as a cornerstone in molecular biology to understand gene expression and to frame fundamental questions on what proteins a cell synthesizes, how proteins work and to predict the consequences of mutations.
Cleary JD, Ranum LP.
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Inducible expression of human C9ORF72 36× G4C2 hexanucleotide repeats is sufficient to cause RAN translation and rapid muscular atrophy in mice [PDF]
Disease Models & Mechanisms, 2021 The hexanucleotide G4C2 repeat expansion in the first intron of the C9ORF72 gene accounts for the majority of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) cases.
Fréderike W. Riemslagh +6 more
doaj +2 more sources
Repeat-Associated Non-ATG (RAN) Translation in Fuchs' Endothelial Corneal Dystrophy. [PDF]
Invest Ophthalmol Vis Sci, 2018 The strongest genetic association with Fuchs' endothelial corneal dystrophy (FECD) is the presence of an intronic (CTG·CAG)n trinucleotide repeat (TNR) expansion in the transcription factor 4 (TCF4) gene. Repeat-associated non-ATG (RAN) translation, an unconventional protein translation mechanism that does not require an initiating ATG, has been ...
Soragni E +6 more
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Metformin inhibits RAN translation through PKR pathway and mitigates disease in C9orf72 ALS/FTD mice. [PDF]
Proc Natl Acad Sci U S A, 2020 Significance Repeat-associated non-AUG (RAN) proteins accumulate in patient brains and contribute to a growing number of neurodegenerative diseases. There is an urgent need to understand why expression of these proteins does not require canonical or near-cognate AUG start codons and to develop ways to block RAN protein production.
Zu T +12 more
europepmc +5 more sources
RPS25 is required for efficient RAN translation of C9orf72 and other neurodegenerative disease-associated nucleotide repeats. [PDF]
Nat Neurosci, 2019 Nucleotide repeat expansions in the C9orf72 gene are the most common cause of amyotrophic lateral sclerosis and frontotemporal dementia. Unconventional translation (RAN translation) of C9orf72 repeats generates dipeptide repeat proteins that can cause neurodegeneration.
Yamada SB +19 more
europepmc +5 more sources
Repeat associated non-ATG (RAN) translation: new starts in microsatellite expansion disorders. [PDF]
Curr Opin Genet Dev, 2014 Microsatellite-expansion diseases are a class of neurological and neuromuscular disorders caused by the expansion of short stretches of repetitive DNA (e.g. GGGGCC, CAG, CTG …) within the human genome. Since their discovery 20 years ago, research into how microsatellites expansions cause disease has been examined using the model that these genes are ...
Cleary JD, Ranum LP.
europepmc +4 more sources
Astroglial-targeted expression of the fragile X CGG repeat premutation in mice yields RAN translation, motor deficits and possible evidence for cell-to-cell propagation of FXTAS pathology [PDF]
Acta Neuropathologica Communications, 2019 The fragile X premutation is a CGG trinucleotide repeat expansion between 55 and 200 repeats in the 5′-untranslated region of the fragile X mental retardation 1 (FMR1) gene.
H. Jürgen Wenzel +13 more
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Characterization of RAN Translation and Antisense Transcription in Primary Cell Cultures of Patients with Myotonic Dystrophy Type 1 [PDF]
Journal of Clinical Medicine, 2021 Judit Nuñez-Manchón +2 more
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The carboxyl termini of RAN translated GGGGCC nucleotide repeat expansions modulate toxicity in models of ALS/FTD [PDF]
Acta Neuropathologica Communications, 2020 An intronic hexanucleotide repeat expansion in C9ORF72 causes familial and sporadic amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).
Fang He +8 more
doaj +4 more sources
The features of pathologic RAN translation [PDF]
Nature Reviews Molecular Cell Biology, 2016 Paulina Strzyz, Strzyz Paulina
exaly +2 more sources