ArticleNature communications2023
Transcriptomics of Hirschsprung disease patient-derived enteric neural crest cells reveals a role for oxidative phosphorylation.
Article in Nature communications, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 20 citations in OpenAlex.
- Combinatorial multiomic analysis from a pedigree of Sox10Dom Hirschsprung mice identifies multiple high confidence candidate modifiers of Enteric Nervous System development.PLoS computational biology · 2026Article
- The impactful role of the HDACs in the regulation of gene expression and as targets for disease therapy.Science advances · 2026Review
- TNF alpha unmasks enteric malate aspartate shuttle dysfunction bridging Parkinson disease and intestinal inflammation.Nature communications · 2026Article
- Vinculin influences essential processes in enteric nervous system development and Hirschsprung disease pathogenesis.The Journal of clinical investigation · 2026Article
- Combinatorial multiomic analysis from a pedigree of Sox10bioRxiv : the preprint server for biology · 2025Article
- FGL2-induced metabolic dysregulation in enteric neural crest cells provides insight into Hirschsprung disease pathogenesis.iScience · 2025Article
- MRAS: Master Regulator Analysis of Alternative Splicing.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Article
- Integrated quantitative proteomics and phosphoproteomics analysis reveals USP46-POU4F1-HPSE signaling axis in the pathogenesis of Hirschsprung disease.Acta biochimica et biophysica Sinica · 2025Article
- Article
- Three distinct classes of myenteric ganglia in mice and humans: insights from quantitative analyses.PeerJ · 2025Article
- Decreasing Proprotein Convertase 5 Causes Hirschsprung's Disease by Disrupting Neural Crest Cell Migration.Cellular and molecular gastroenterology and hepatology · 2025Article
- The roles of non-coding RNAs in Hirschsprung's disease.Non-coding RNA research · 2024Review
- Depletion of muscularis macrophages ameliorates inflammation-driven dysmotility in murine colitis model.Scientific reports · 2023Article
- Transcriptomics of Hirschsprung disease patient-derived enteric neural crest cells reveals a role for oxidative phosphorylation.Nature communications · 2023Article
- Suppression of SRC protein kinase activity alleviates the severity of aganglionosis by impairing CAV1/FLNA expression.Science progressArticle
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Authors and funding
12 authors at 4 institutions in 3 countries.
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No grant is acknowledged in the PubMed record.
Abstract
Hirschsprung disease is characterized by the absence of enteric neurons caused by the defects of enteric neural crest cells, leading to intestinal obstruction. Here, using induced pluripotent stem cell-based models of Hirschsprung and single-cell transcriptomic analysis, we identify a gene set of 118 genes commonly dysregulated in all patient enteric neural crest cells, and suggest HDAC1 may be a key regulator of these genes. Furthermore, upregulation of RNA splicing mediators and enhanced alternative splicing events are associated with severe form of Hirschsprung. In particular, the higher inclusion rate of exon 9 in PTBP1 and the perturbed expression of a PTBP1-target, PKM, are significantly enriched in these patient cells, and associated with the defective oxidative phosphorylation and impaired neurogenesis. Hedgehog-induced oxidative phosphorylation significantly enhances the survival and differentiation capacity of patient cells. In sum, we define various factors associated with Hirschsprung pathogenesis and demonstrate the implications of oxidative phosphorylation in enteric neural crest development and HSCR pathogenesis.
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