A carregar...
Publicação
Gene expression regulation by upstream open reading frames in rare diseases
| Nome: | Descrição: | Tamanho: | Formato: | |
|---|---|---|---|---|
| 422.77 KB | Adobe PDF |
Orientador(es)
Resumo(s)
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.
Descrição
Palavras-chave
Upstream Open Reading Frames (uORFs) Non-AUG Initiation Codon Translation Initiation Translational Regulation Human Rare Disease Stress Expressão Génica Genómica Funcional e Estrutural
Contexto Educativo
Citação
J Rare Dis Res Treat. 2017;2(4):33-38.
Editora
[s.n.]