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| Zdroj: |
Health & Medicine Week; 9/20/2024, p5589-5589, 1p |
| Abstrakt: |
A recent report from researchers at Nagoya City University in Japan discusses the role of the PNPLA8 enzyme in various physiological processes and its association with pediatric neurodegenerative disorders. The researchers identified 14 individuals from 12 unrelated families with ultra-rare variants in PNPLA8, leading to a wide range of clinical features. The study found that complete loss of PNPLA8 was associated with congenital microcephaly, and further analysis using cerebral organoids revealed that loss of PNPLA8 led to developmental defects by reducing the number of basal radial glial cells and upper-layer neurons. The research suggests that PNPLA8 is crucial for phospholipid synthesis and the production of basal radial glial cells in human brain development. [Extracted from the article] |
| Databáze: |
Complementary Index |
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