Fragile X: Translation in action

Mark F. Bear; Gül Dölen; Emily Osterweil; Naveen Nagarajan

doi:10.1038/sj.npp.1301610

Fragile X: Translation in action

Mark F. Bear, Gül Dölen, Emily Osterweil, Naveen Nagarajan

School of Medicine

Research output: Contribution to journal › Review article › peer-review

79 Scopus citations

Abstract

Fragile X is a synapsopathy - a disorder of synaptic function and plasticity. Recent studies using mouse models of the disease suggest that the critical defect is altered regulation of synaptic protein synthesis. Various strategies to restore balanced synaptic protein synthesis have been remarkably successful in correcting widely varied mutant phenotypes in mice. Insights gained by the study of synaptic plasticity in animal models of fragile X have suggested novel therapeutic approaches, not only for human fragile X but also for autism and mental retardation of unknown etiology.

Original language	English (US)
Pages (from-to)	84-87
Number of pages	4
Journal	Neuropsychopharmacology
Volume	33
Issue number	1
DOIs	https://doi.org/10.1038/sj.npp.1301610
State	Published - Jan 2008

Keywords

Autism
Cerebral protein synthesis
Developmental disorder
Fragile x
Metabotropic glutamate receptor
Synaptic plasticity

ASJC Scopus subject areas

Pharmacology
Psychiatry and Mental health

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10.1038/sj.npp.1301610

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title = "Fragile X: Translation in action",

abstract = "Fragile X is a synapsopathy - a disorder of synaptic function and plasticity. Recent studies using mouse models of the disease suggest that the critical defect is altered regulation of synaptic protein synthesis. Various strategies to restore balanced synaptic protein synthesis have been remarkably successful in correcting widely varied mutant phenotypes in mice. Insights gained by the study of synaptic plasticity in animal models of fragile X have suggested novel therapeutic approaches, not only for human fragile X but also for autism and mental retardation of unknown etiology.",

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AU - Bear, Mark F.

AU - Dölen, Gül

AU - Osterweil, Emily

AU - Nagarajan, Naveen

N1 - Funding Information: This article summarizes research supported by grants from the NIMH, NICHD, NEI, FRAXA, and the Simons Foundation.

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AB - Fragile X is a synapsopathy - a disorder of synaptic function and plasticity. Recent studies using mouse models of the disease suggest that the critical defect is altered regulation of synaptic protein synthesis. Various strategies to restore balanced synaptic protein synthesis have been remarkably successful in correcting widely varied mutant phenotypes in mice. Insights gained by the study of synaptic plasticity in animal models of fragile X have suggested novel therapeutic approaches, not only for human fragile X but also for autism and mental retardation of unknown etiology.

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KW - Cerebral protein synthesis

KW - Developmental disorder

KW - Fragile x

KW - Metabotropic glutamate receptor

KW - Synaptic plasticity

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Fragile X: Translation in action

Abstract

Keywords

ASJC Scopus subject areas

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