ArticleNucleic acids research2002
An upstream open reading frame impedes translation of the huntingtin gene.
Article in Nucleic acids research, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 47 citations in OpenAlex.
- Genetic modifiers of somatic expansion and clinical phenotypes in Huntington's disease highlight shared and tissue-specific effects.Nature genetics · 2025Article
- Exosomes for CRISPR-Cas9 Delivery: The Cutting Edge in Genome Editing.Molecular biotechnology · 2024Review
- Polyglutamine-mediated ribotoxicity disrupts proteostasis and stress responses in Huntington's disease.Nature cell biology · 2024Article
- CRISPR/Cas9 gene editing: New hope for Alzheimer's disease therapeutics.Journal of advanced research · 2022Review
- Gene Therapy Approach with an Emphasis on Growth Factors: Theoretical and Clinical Outcomes in Neurodegenerative Diseases.Molecular neurobiology · 2022Review
- Translation of the intrinsically disordered protein α-synuclein is inhibited by a small molecule targeting its structured mRNA.Proceedings of the National Academy of Sciences of the United States of America · 2020Article
- CUG initiation and frameshifting enable production of dipeptide repeat proteins from ALS/FTD C9ORF72 transcripts.Nature communications · 2018Article
- CRISPR-Cas9 Mediated Gene-Silencing of the Mutant Huntingtin Gene in an In Vitro Model of Huntington's Disease.International journal of molecular sciences · 2017Article
- Thousands of novel translated open reading frames in humans inferred by ribosome footprint profiling.eLife · 2016Article
- The A2A adenosine receptor is a dual coding gene: a novel mechanism of gene usage and signal transduction.The Journal of biological chemistry · 2014Article
- Role of context in RNA structure: flanking sequences reconfigure CAG motif folding in huntingtin exon 1 transcripts.Biochemistry · 2013Article
- Genome-wide search for novel human uORFs and N-terminal protein extensions using ribosomal footprinting.Genome research · 2012Article
- A natural antisense transcript at the Huntington's disease repeat locus regulates HTT expression.Human molecular genetics · 2011Article
- Multiple mechanisms influence regulation of the cystic fibrosis transmembrane conductance regulator gene promoter.American journal of respiratory cell and molecular biology · 2010Article
- Expression of the anti-amyloidogenic secretase ADAM10 is suppressed by its 5'-untranslated region.The Journal of biological chemistry · 2010Article
- Complex regulation of human cathelicidin gene expression: novel splice variants and 5'UTR negative regulatory element.Molecular immunology · 2008Article
- Functional characterization of two novel 5' untranslated exons reveals a complex regulation of NOD2 protein expression.BMC genomics · 2007Article
- Article
- Huntingtin gene evolution in Chordata and its peculiar features in the ascidian Ciona genus.BMC genomics · 2006Article
- Begin at the beginning: predicting genes with 5' UTRs.Genome research · 2005Article
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Expansion of a CAG tract within the huntingtin gene, leading to the production of a protein with an expanded polyglutamine tract, is responsible for Huntington's disease. We show here that the 5' untranslated region (UTR) of the huntingtin gene plays an important role in controlling the synthesis of huntingtin. In particular, the 5' UTR contains an upstream open reading frame (uORF) encoding a 21 amino acid peptide. We demonstrate that the presence of this uORF negatively influences expression from the huntingtin mRNA. Our results suggest a role for the uORF in limiting ribosomal access to downstream initiation sites. Mechanisms involving the post-transcriptional regulation of huntingtin are not well understood, and this may be an important way of regulating huntingtin protein levels.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.