NDLI: Gene expression regulation by upstream open reading frames in rare diseases

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Gene expression regulation by upstream open reading frames in rare diseases

Content Provider	Semantic Scholar
Author	Silva, Joana Vieira Fernandes, Rafael N. Romão, Luísa
Copyright Year	2017
Abstract	Upstream open reading frames (uORFs) constitute a class of cis-acting elements that regulate translation initiation. Mutations or polymorphisms that alter, create or disrupt a uORF have been widely associated with several human disorders, including rare diseases. In this mini-review, we intend to highlight the mechanisms associated with the uORF-mediated translational regulation and describe recent examples of their deregulation in the etiology of human rare diseases. Additionally, we discuss new insights arising from ribosome profiling studies and reporter assays regarding uORF features and their intrinsic role in translational regulation. This type of knowledge is of most importance to design and implement new or improved diagnostic and/or treatment strategies for uORF-related human disorders.
File Format	PDF HTM / HTML
Alternate Webpage(s)	http://www.rarediseasesjournal.com/articles/gene-expression-regulation-by-upstream-open-reading-frames-in-rare-diseases.pdf
Language	English
Access Restriction	Open
Subject Keyword	Codon (nucleotide sequence) Codon, Initiator Deregulation Frame (physical object) Gene Expression Regulation Genetic Translation Process International Symposium on Fundamentals of Computation Theory Item Unique Identification Open Reading Frames Open reading frame Radio frequency Rare Diseases Reading Frames (Nucleotide Sequence) Ribosomes Transcription Initiation Translation Initiation Translational Regulation Unique Identifier
Content Type	Text
Resource Type	Article

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