@inbook{a7f1a27064bb40d58a0328a69a4d08ee,
title = "Polyalanine tract disorders and neurocognitive phenotypes",
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.",
author = "Cheryl Shoubridge and Jozef Gecz",
year = "2012",
month = jan,
day = "1",
doi = "10.1007/978-1-4614-5434-2_12",
language = "English",
isbn = "9781461454335",
series = "Advances in Experimental Medicine and Biology",
publisher = "Springer New York LLC",
pages = "185--203",
booktitle = "Tandem Repeat Polymorphisms",
}