In vitro drug treatments reduce the deleterious effects of aggregates containing polyAla expanded PHOX2B proteins

In vitro drug treatments reduce the deleterious effects of aggregates containing polyAla expanded PHOX2B proteins

Heterozygous in frame duplications of the PHOX2B gene, leading to polyalanine (polyAla) expansions ranging from +5 to +13 residues of a 20-alanine stretch, have been identified in the vast majority of patients affected with Congenital Central Hypoventilation Syndrome (CCHS), a rare neurocristopathy...

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Bibliographic Details
Main Authors: Eleonora Di Zanni, Tiziana Bachetti, Sara Parodi, Paola Bocca, Ignazia Prigione, Simona Di Lascio, Diego Fornasari, Roberto Ravazzolo, Isabella Ceccherini
Format: Article
Language:English
Published: Elsevier 2012-01-01
Series:Neurobiology of Disease
Subjects:
Congenital Central Hypoventilation Syndrome
PHOX2B
Polyalanine expansions
Intracytoplasmic aggregates
Drug treatment
17-AAG
Online Access:http://www.sciencedirect.com/science/article/pii/S0969996111003172

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http://www.sciencedirect.com/science/article/pii/S0969996111003172

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