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The FMRP regulon: from targets to disease convergence

The fragile X mental retardation protein (FMRP) is an RNA-binding protein that regulates mRNA metabolism. FMRP has been largely studied in the brain, where the absence of this protein leads to fragile X syndrome, the most frequent form of inherited intellectual disability. Since the identification o...

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Autores principales: Fernández, Esperanza, Rajan, Nicholas, Bagni, Claudia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3807044/
https://www.ncbi.nlm.nih.gov/pubmed/24167470
http://dx.doi.org/10.3389/fnins.2013.00191
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author Fernández, Esperanza
Rajan, Nicholas
Bagni, Claudia
author_facet Fernández, Esperanza
Rajan, Nicholas
Bagni, Claudia
author_sort Fernández, Esperanza
collection PubMed
description The fragile X mental retardation protein (FMRP) is an RNA-binding protein that regulates mRNA metabolism. FMRP has been largely studied in the brain, where the absence of this protein leads to fragile X syndrome, the most frequent form of inherited intellectual disability. Since the identification of the FMRP gene in 1991, many studies have primarily focused on understanding the function/s of this protein. Hundreds of potential FMRP mRNA targets and several interacting proteins have been identified. Here, we report the identification of FMRP mRNA targets in the mammalian brain that support the key role of this protein during brain development and in regulating synaptic plasticity. We compared the genes from databases and genome-wide association studies with the brain FMRP transcriptome, and identified several FMRP mRNA targets associated with autism spectrum disorders, mood disorders and schizophrenia, showing a potential common pathway/s for these apparently different disorders.
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spelling pubmed-38070442013-10-28 The FMRP regulon: from targets to disease convergence Fernández, Esperanza Rajan, Nicholas Bagni, Claudia Front Neurosci Genetics The fragile X mental retardation protein (FMRP) is an RNA-binding protein that regulates mRNA metabolism. FMRP has been largely studied in the brain, where the absence of this protein leads to fragile X syndrome, the most frequent form of inherited intellectual disability. Since the identification of the FMRP gene in 1991, many studies have primarily focused on understanding the function/s of this protein. Hundreds of potential FMRP mRNA targets and several interacting proteins have been identified. Here, we report the identification of FMRP mRNA targets in the mammalian brain that support the key role of this protein during brain development and in regulating synaptic plasticity. We compared the genes from databases and genome-wide association studies with the brain FMRP transcriptome, and identified several FMRP mRNA targets associated with autism spectrum disorders, mood disorders and schizophrenia, showing a potential common pathway/s for these apparently different disorders. Frontiers Media S.A. 2013-10-24 /pmc/articles/PMC3807044/ /pubmed/24167470 http://dx.doi.org/10.3389/fnins.2013.00191 Text en Copyright © 2013 Fernández, Rajan and Bagni. http://creativecommons.org/licenses/by/3.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Genetics
Fernández, Esperanza
Rajan, Nicholas
Bagni, Claudia
The FMRP regulon: from targets to disease convergence
title The FMRP regulon: from targets to disease convergence
title_full The FMRP regulon: from targets to disease convergence
title_fullStr The FMRP regulon: from targets to disease convergence
title_full_unstemmed The FMRP regulon: from targets to disease convergence
title_short The FMRP regulon: from targets to disease convergence
title_sort fmrp regulon: from targets to disease convergence
topic Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3807044/
https://www.ncbi.nlm.nih.gov/pubmed/24167470
http://dx.doi.org/10.3389/fnins.2013.00191
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