Please use this identifier to cite or link to this item:
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
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
Transcription Factors
Severity of Illness Index
Cognition Disorders
Trinucleotide Repeat Expansion
Genetic Association Studies
DOI: 10.1007/978-1-4614-5434-2_12
Description (link):
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.