Article
Transcriptional dysregulation and impairment of PHOX2B auto-regulatory mechanism induced by polyalanine expansion mutations associated with congenital central hypoventilation syndrome.
Neurobiology of disease - 1 Feb 2013
Di Lascio Simona, Bachetti Tiziana, Saba Elena, Ceccherini Isabella, Benfante Roberta, Fornasari Diego
Abstract excerpt
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 dysfunction including inadequate control of breathing. The vast majority of patients with CCHS are heterozygous for a...
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