{"PubmedArticle":{"MedlineCitation":{"@attributes":{"Status":"MEDLINE","Owner":"NLM","IndexingMethod":"Manual"},"PMID":{"@attributes":{"Version":"1"},"@text":"23473314"},"DateCompleted":{"Year":"2013","Month":"04","Day":"22"},"DateRevised":{"Year":"2024","Month":"06","Day":"10"},"Article":{"@attributes":{"PubModel":"Print"},"Journal":{"ISSN":{"@attributes":{"IssnType":"Electronic"},"@text":"1097-4199"},"JournalIssue":{"@attributes":{"CitedMedium":"Internet"},"Volume":"77","Issue":"5","PubDate":{"Year":"2013","Month":"Mar","Day":"06"}},"Title":"Neuron","ISOAbbreviation":"Neuron"},"ArticleTitle":"The unstable repeats--three evolving faces of neurological disease.","Pagination":{"StartPage":"825","EndPage":"843","MedlinePgn":"825-43"},"ELocationID":[{"@attributes":{"EIdType":"doi","ValidYN":"Y"},"@text":"10.1016\/j.neuron.2013.02.022"},{"@attributes":{"EIdType":"pii","ValidYN":"Y"},"@text":"S0896-6273(13)00180-3"}],"Abstract":{"AbstractText":["Disorders characterized by expansion of an unstable nucleotide repeat account for a number of inherited neurological diseases. Here, we review examples of unstable repeat disorders that nicely illustrate three of the major pathogenic mechanisms associated with these diseases: loss of function typically by disrupting transcription of the mutated gene, RNA toxic gain of function, and protein toxic gain of function. In addition to providing insight into the mechanisms underlying these devastating neurological disorders, the study of these unstable microsatellite repeat disorders has provided insight into very basic aspects of neuroscience."],"CopyrightInformation":"Copyright \u00a9 2013 Elsevier Inc. All rights reserved."},"AuthorList":{"@attributes":{"CompleteYN":"Y"},"Author":[{"@attributes":{"ValidYN":"Y"},"LastName":"Nelson","ForeName":"David L","Initials":"DL","AffiliationInfo":[{"Affiliation":"Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA. nelson@bcm.edu"}]},{"@attributes":{"ValidYN":"Y"},"LastName":"Orr","ForeName":"Harry T","Initials":"HT"},{"@attributes":{"ValidYN":"Y"},"LastName":"Warren","ForeName":"Stephen T","Initials":"ST"}]},"Language":["eng"],"GrantList":{"@attributes":{"CompleteYN":"Y"},"Grant":[{"GrantID":"R37 HD020521","Acronym":"HD","Agency":"NICHD NIH HHS","Country":"United States"},{"GrantID":"NS022920","Acronym":"NS","Agency":"NINDS NIH HHS","Country":"United States"},{"GrantID":"HD024064","Acronym":"HD","Agency":"NICHD NIH HHS","Country":"United States"},{"GrantID":"R01 NS022920","Acronym":"NS","Agency":"NINDS NIH HHS","Country":"United States"},{"GrantID":"NS051630","Acronym":"NS","Agency":"NINDS NIH HHS","Country":"United States"},{"GrantID":"P30 HD024064","Acronym":"HD","Agency":"NICHD NIH HHS","Country":"United States"},{"GrantID":"R37 NS022920","Acronym":"NS","Agency":"NINDS NIH HHS","Country":"United States"},{"GrantID":"NS045667","Acronym":"NS","Agency":"NINDS NIH HHS","Country":"United States"},{"GrantID":"R01 NS051630","Acronym":"NS","Agency":"NINDS NIH HHS","Country":"United States"},{"GrantID":"HD020521","Acronym":"HD","Agency":"NICHD NIH HHS","Country":"United States"},{"GrantID":"R01 NS045667","Acronym":"NS","Agency":"NINDS NIH HHS","Country":"United States"},{"GrantID":"R01 HD020521","Acronym":"HD","Agency":"NICHD NIH HHS","Country":"United States"}]},"PublicationTypeList":{"PublicationType":[{"@attributes":{"UI":"D016428"},"@text":"Journal Article"},{"@attributes":{"UI":"D052061"},"@text":"Research Support, N.I.H., Extramural"},{"@attributes":{"UI":"D016454"},"@text":"Review"}]}},"MedlineJournalInfo":{"Country":"United States","MedlineTA":"Neuron","NlmUniqueID":"8809320","ISSNLinking":"0896-6273"},"CitationSubset":["IM"],"MeshHeadingList":{"MeshHeading":[{"DescriptorName":{"@attributes":{"UI":"D000818","MajorTopicYN":"N"},"@text":"Animals"}},{"DescriptorName":{"@attributes":{"UI":"D055534","MajorTopicYN":"N"},"@text":"Bulbo-Spinal Atrophy, X-Linked"},"QualifierName":[{"@attributes":{"UI":"Q000235","MajorTopicYN":"N"},"@text":"genetics"}]},{"DescriptorName":{"@attributes":{"UI":"D005600","MajorTopicYN":"N"},"@text":"Fragile X Syndrome"},"QualifierName":[{"@attributes":{"UI":"Q000235","MajorTopicYN":"N"},"@text":"genetics"}]},{"DescriptorName":{"@attributes":{"UI":"D006801","MajorTopicYN":"N"},"@text":"Humans"}},{"DescriptorName":{"@attributes":{"UI":"D018895","MajorTopicYN":"N"},"@text":"Microsatellite Repeats"},"QualifierName":[{"@attributes":{"UI":"Q000235","MajorTopicYN":"Y"},"@text":"genetics"}]},{"DescriptorName":{"@attributes":{"UI":"D009223","MajorTopicYN":"N"},"@text":"Myotonic Dystrophy"},"QualifierName":[{"@attributes":{"UI":"Q000235","MajorTopicYN":"N"},"@text":"genetics"}]},{"DescriptorName":{"@attributes":{"UI":"D009422","MajorTopicYN":"N"},"@text":"Nervous System Diseases"},"QualifierName":[{"@attributes":{"UI":"Q000235","MajorTopicYN":"Y"},"@text":"genetics"}]},{"DescriptorName":{"@attributes":{"UI":"D020754","MajorTopicYN":"N"},"@text":"Spinocerebellar Ataxias"},"QualifierName":[{"@attributes":{"UI":"Q000235","MajorTopicYN":"N"},"@text":"genetics"}]},{"DescriptorName":{"@attributes":{"UI":"D019680","MajorTopicYN":"N"},"@text":"Trinucleotide Repeat Expansion"},"QualifierName":[{"@attributes":{"UI":"Q000235","MajorTopicYN":"N"},"@text":"genetics"}]},{"DescriptorName":{"@attributes":{"UI":"D018911","MajorTopicYN":"N"},"@text":"Trinucleotide Repeats"}}]}},"PubmedData":{"History":{"PubMedPubDate":[{"@attributes":{"PubStatus":"accepted"},"Year":"2013","Month":"2","Day":"20"},{"@attributes":{"PubStatus":"entrez"},"Year":"2013","Month":"3","Day":"12","Hour":"6","Minute":"0"},{"@attributes":{"PubStatus":"pubmed"},"Year":"2013","Month":"3","Day":"12","Hour":"6","Minute":"0"},{"@attributes":{"PubStatus":"medline"},"Year":"2013","Month":"4","Day":"23","Hour":"6","Minute":"0"},{"@attributes":{"PubStatus":"pmc-release"},"Year":"2014","Month":"3","Day":"6"}]},"PublicationStatus":"ppublish","ArticleIdList":{"ArticleId":[{"@attributes":{"IdType":"pubmed"},"@text":"23473314"},{"@attributes":{"IdType":"mid"},"@text":"NIHMS449629"},{"@attributes":{"IdType":"pmc"},"@text":"PMC3608403"},{"@attributes":{"IdType":"doi"},"@text":"10.1016\/j.neuron.2013.02.022"},{"@attributes":{"IdType":"pii"},"@text":"S0896-6273(13)00180-3"}]},"ReferenceList":[{"Reference":[{"Citation":"Antar LN, Afroz R, Dictenberg JB, Carroll RC, Bassell GJ. 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