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A Preventable Congenital Heart Malformation Syndrome Caused by a Mutation in the Glycolytic Gene PFKP
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DOI：10.1016/j.jacbts.2026.101599.png)
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Abstract
En 中文
• Identified PFKP as a key metabolic regulator of embryonic heart development. • Heterozygous PFKP mutations impair ventricular compaction via glycolysis. • Intra-amniotic F-1,6-BP supplementation rescued cardiac developmental defects.
Keywords:
cardiomyocyte proliferation
congenital heart disease
glycolysis
myocardial development
PFKP
CHD
congenital heart disease
F-1,6-BP
fructose-1,6-bisphosphate
hiPSC-CM
human induced pluripotent stem cell–derived cardiomyocyte
PFK1
phosphofructokinase-1
PFKP
platelet isoform of phosphofructokinase-1
WT
wild-type
Journal
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7.2
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1.2K
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