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Organoid models of breathing disorders reveal patterning defect of hindbrain neurons caused by PHOX2B-PARMs.

Stem cell reports - 11 Jul 2023

Lui Kathy Nga-Chu, Li Zhixin, Lai Frank Pui-Ling, Lau Sin-Ting, Ngan Elly Sau-Wai

Abstract excerpt

Retrotrapezoid nucleus (RTN) neurons in the brainstem regulate the ventilatory response to hypercarbia. It is unclear how PHOX2B-polyalanine repeat mutations (PHOX2B-PARMs) alter the function of PHOX2B and perturb the formation of RTN neurons. Here, we generated human brainstem organoids (HBSOs) with RTN-like neurons from human pluripotent stem cells. Single-cell transcriptomics revealed that expression of...

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Identifiers

PMID: 37352849
DOI: 10.1016/j.stemcr.2023.05.020
PMCID: PMC10362500

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