Transcriptional dysregulation and impairment of PHOX2B auto-regulatory mechanism induced by polyalanine expansion mutations associated with congenital central hypoventilation syndrome

Transcriptional dysregulation and impairment of PHOX2B auto-regulatory mechanism induced by polyalanine expansion mutations associated with congenital central hypoventilation syndrome

The PHOX2B transcription factor plays a crucial role in autonomic nervous system development. In humans, heterozygous mutations of the PHOX2B gene lead to congenital central hypoventilation syndrome (CCHS), a rare disorder characterized by a broad variety of symptoms of autonomic nervous system dysf...

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Bibliographic Details
Main Authors: Simona Di Lascio, Tiziana Bachetti, Elena Saba, Isabella Ceccherini, Roberta Benfante, Diego Fornasari
Format: Article
Language:English
Published: Elsevier 2013-02-01
Series:Neurobiology of Disease
Subjects:
Congenital central hypoventilation syndrome
PHOX2B
Polyalanine mutations
Dominant-negative
DNA binding
Online Access:http://www.sciencedirect.com/science/article/pii/S0969996112003476

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