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PubMed · 15358730

Polyalanine expansions in human.

Jeanne Amiel·Delphine Trochet·Mathieu Clément-Ziza·Arnold Munnich·Stanislas Lyonnet
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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.

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AnimalsCongenital AbnormalitiesHeredodegenerative Disorders, Nervous SystemHumansPeptidesTrinucleotide Repeat ExpansionJournal ArticleReview

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Jeanne Amiel, Delphine Trochet, Mathieu Clément-Ziza, Arnold Munnich, Stanislas Lyonnet. 2004-10-01. Polyalanine expansions in human.. https://doi.org/10.1093/hmg%2Fddh251

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