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Article

NH2-terminal deletion of specific phosphorylation sites on PHOX2B disrupts the formation of enteric neurons in vivo.

American journal of physiology. Gastrointestinal and liver physiology - 1 Jun 2021

Chang David F, Gilliam Elizabeth A, Nucho Laura-Marie A, Garcia Jazmin, Shevchenko Yevheniya, Zuber Samuel M, Squillaro Anthony I, Maselli Kathryn M, Huang Sha, Spence Jason R, Grikscheit Tracy C

Abstract excerpt

Mutations in the paired-like homeobox 2 b (PHOX2B) gene are associated with congenital central hypoventilation syndrome (CCHS), which is a rare condition in which both autonomic dysregulation with hypoventilation and an enteric neuropathy may occur. The majority of patients with CCHS have a polyalanine repeat mutation (PARM) in PHOX2B, but a minority of patients have nonpolyalanine repeat mutations (NPARMs), some...

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PMID: 33881351
DOI: 10.1152/ajpgi.00073.2021

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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NH2-terminal deletion of specific phosphorylation sites on PHOX2B disrupts the formation of enteric neurons in vivo.PMID 33881351Read ↗

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