Abstract:
:Beside the well-known polyglutamine expansions involved in several neurodegenerative disorders, convergent recent findings pointed to the expansion of polyalanine stretches as a disease mechanism in congenital malformations, skeletal dysplasia and nervous system anomalies. Polyalanine stretches have been predicted in roughly 500 human proteins among which nine have been ascribed to disease phenotype by expansion of polyalanines. The function of polyalanine stretches is largely unknown. This paper aims to review the rapidly growing evidences for a disease-causing mechanism common to expansion of homopolymeric tracts whatever the amino acid involved is.
journal_name
Hum Mol Genetjournal_title
Human molecular geneticsauthors
Amiel J,Trochet D,Clément-Ziza M,Munnich A,Lyonnet Sdoi
10.1093/hmg/ddh251subject
Has Abstractpub_date
2004-10-01 00:00:00pages
R235-43eissn
0964-6906issn
1460-2083pii
13/suppl_2/R235journal_volume
13 Spec No 2pub_type
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