Protein components of the microRNA pathway and human diseases

Authors: Perron, MarjorieProvost, Patrick
Abstract: MicroRNAs (miRNAs) are key regulators of messenger RNA (mRNA) translation known to be involved in a wide variety of cellular processes. In fact, their individual importance is reflected in the diseases that may arise upon the loss, mutation or dysfunction of specific miRNAs. It has been appreciated only recently that diseases may also develop when the protein components of the miRNA machinery itself are affected. The core enzymes of the major protein complexes involved in miRNA biogenesis and function, such as the ribonucleases III (RNases III) Drosha and Dicer as well as Argonaute 2 (Ago2), appear to be essential. However, the accessory proteins of the miRNA pathway, such as the DiGeorge syndrome critical region gene 8 (DGCR8) protein, Exportin-5 (Exp-5), TAR RNA binding protein (TRBP) and fragile X mental retardation protein (FMRP), are each related, in various ways, to specific genetic diseases.
Document Type: Chapitre d'ouvrage
Issue Date: 13 October 2008
Open Access Date: Restricted access
Document version: VoR
This document was published in: Methods in Molecular Biology, siRNA and miRNA Gene Silencing, Vol. 487, 369-385 (2009)
Springer Nature
Alternative version: 10.1007/978-1-60327-547-7_18
Collection:Chapitres de livre

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