Please use this identifier to cite or link to this item:
Scopus Web of ScienceĀ® Altmetric
Full metadata record
DC FieldValueLanguage
dc.contributor.authorShoubridge, C.-
dc.contributor.authorGecz, J.-
dc.contributor.editorHannan, A.-
dc.identifier.citationTandem Repeat Polymorphisms: Genetic Plasticity, Neural Diversity and Disease, 2012 / Hannan, A. (ed./s), vol.769, pp.185-203-
dc.description.abstractExpansion of polyalanine tracts cause at least 9 inherited human diseases. Eight of these nine diseases are due to expansions in transcription factors and give rise to congenital disorders, many with neurocognitive phenotypes. Disease causing expansions vary in length depending upon the gene in question, with the severity of the associated clinical phenotype generally increasing with length of the polyalanine tract. The past decade has seen considerable progress in the understanding on how these mutations may arise and the functional effect of expanded polyalanine tracts on the resulting protein. Despite this progress, the pathogenic mechanism of expanded polyalanine tracts contributing to the associated disease states remains poorly understood. Gaining insights into the mechanisms that underlie the pathogenesis of different expanded polyalanine tract mutations will be a necessary step on the path to the design of potential treatment strategies for the associated diseases.-
dc.description.statementofresponsibilityCheryl Shoubridge and Jozef Gecz-
dc.relation.ispartofseriesAdvances in Experimental Medicine and Biology; 769-
dc.subjectGenetic Diseases, Inborn-
dc.subjectTranscription Factors-
dc.subjectSeverity of Illness Index-
dc.subjectCognition Disorders-
dc.subjectTrinucleotide Repeat Expansion-
dc.subjectGenetic Association Studies-
dc.titlePolyalanine tract disorders and neurocognitive phenotypes-
dc.typeBook chapter-
dc.publisher.placeUnited States-
dc.identifier.orcidShoubridge, C. [0000-0002-0157-3084]-
dc.identifier.orcidGecz, J. [0000-0002-7884-6861]-
Appears in Collections:Aurora harvest 4
Paediatrics publications

Files in This Item:
There are no files associated with this item.

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.