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dc.contributor.authorRichter, Joel D.
dc.contributor.authorZhao, Xinyu
dc.date2022-08-11T08:10:00.000
dc.date.accessioned2022-08-23T16:51:38Z
dc.date.available2022-08-23T16:51:38Z
dc.date.issued2021-04-01
dc.date.submitted2021-08-10
dc.identifier.citation<p>Richter JD, Zhao X. The molecular biology of FMRP: new insights into fragile X syndrome. Nat Rev Neurosci. 2021 Apr;22(4):209-222. doi: 10.1038/s41583-021-00432-0. Epub 2021 Feb 19. PMID: 33608673; PMCID: PMC8094212. <a href="https://doi.org/10.1038/s41583-021-00432-0">Link to article on publisher's site</a></p>
dc.identifier.issn1471-003X (Linking)
dc.identifier.doi10.1038/s41583-021-00432-0
dc.identifier.pmid33608673
dc.identifier.urihttp://hdl.handle.net/20.500.14038/41895
dc.description.abstractFragile X mental retardation protein (FMRP) is the product of the fragile X mental retardation 1 gene (FMR1), a gene that - when epigenetically inactivated by a triplet nucleotide repeat expansion - causes the neurodevelopmental disorder fragile X syndrome (FXS). FMRP is a widely expressed RNA-binding protein with activity that is essential for proper synaptic plasticity and architecture, aspects of neural function that are known to go awry in FXS. Although the neurophysiology of FXS has been described in remarkable detail, research focusing on the molecular biology of FMRP has only scratched the surface. For more than two decades, FMRP has been well established as a translational repressor; however, recent whole transcriptome and translatome analyses in mouse and human models of FXS have shown that FMRP is involved in the regulation of nearly all aspects of gene expression. The emerging mechanistic details of the mechanisms by which FMRP regulates gene expression may offer ways to design new therapies for FXS.
dc.language.isoen_US
dc.relation<p><a href="http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=pubmed&cmd=Retrieve&list_uids=33608673&dopt=Abstract">Link to Article in PubMed</a></p>
dc.relation.urlhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC8094212/
dc.subjectFMRP
dc.subjectFragile X Syndrome
dc.subjectNeurodevelopmental disorder
dc.subjectRNA binding protein
dc.subjectAmino Acids, Peptides, and Proteins
dc.subjectCongenital, Hereditary, and Neonatal Diseases and Abnormalities
dc.subjectMolecular and Cellular Neuroscience
dc.subjectMolecular Biology
dc.subjectNervous System Diseases
dc.subjectNeuroscience and Neurobiology
dc.titleThe molecular biology of FMRP: new insights into fragile X syndrome
dc.typeJournal Article
dc.source.journaltitleNature reviews. Neuroscience
dc.source.volume22
dc.source.issue4
dc.identifier.legacycoverpagehttps://escholarship.umassmed.edu/oapubs/4701
dc.identifier.contextkey24268465
html.description.abstract<p>Fragile X mental retardation protein (FMRP) is the product of the fragile X mental retardation 1 gene (FMR1), a gene that - when epigenetically inactivated by a triplet nucleotide repeat expansion - causes the neurodevelopmental disorder fragile X syndrome (FXS). FMRP is a widely expressed RNA-binding protein with activity that is essential for proper synaptic plasticity and architecture, aspects of neural function that are known to go awry in FXS. Although the neurophysiology of FXS has been described in remarkable detail, research focusing on the molecular biology of FMRP has only scratched the surface. For more than two decades, FMRP has been well established as a translational repressor; however, recent whole transcriptome and translatome analyses in mouse and human models of FXS have shown that FMRP is involved in the regulation of nearly all aspects of gene expression. The emerging mechanistic details of the mechanisms by which FMRP regulates gene expression may offer ways to design new therapies for FXS.</p>
dc.identifier.submissionpathoapubs/4701
dc.contributor.departmentProgram in Molecular Medicine
dc.source.pages209-222


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