Please use this identifier to cite or link to this item:
https://hdl.handle.net/2440/75995
Citations | ||
Scopus | Web of ScienceĀ® | Altmetric |
---|---|---|
?
|
?
|
Type: | Book chapter |
Title: | Polyalanine tract disorders and neurocognitive phenotypes |
Author: | Shoubridge, C. Gecz, J. |
Citation: | Tandem Repeat Polymorphisms: Genetic Plasticity, Neural Diversity and Disease, 2012 / Hannan, A. (ed./s), vol.769, pp.185-203 |
Publisher: | Springer |
Publisher Place: | United States |
Issue Date: | 2012 |
Series/Report no.: | Advances in Experimental Medicine and Biology; 769 |
ISBN: | 9781461454335 |
Editor: | Hannan, A. |
Statement of Responsibility: | Cheryl Shoubridge and Jozef Gecz |
Abstract: | Expansion 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. |
Keywords: | Humans Genetic Diseases, Inborn Peptides Transcription Factors Severity of Illness Index Cognition Disorders Trinucleotide Repeat Expansion Phenotype Genetic Association Studies |
DOI: | 10.1007/978-1-4614-5434-2_12 |
Description (link): | http://www.landesbioscience.com/books/special/id/3667/ |
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.