Publications by authors named "Elizabeth A Ferrer"
Article Synopsis
- The study focuses on the significance of phosphatidylinositol 4-phosphate (PI4P) as a crucial lipid in organelle membranes, impacting various cellular processes, and highlights the role of four phosphatidylinositol 4-kinases (PI4K) in mammalian cells, particularly PI4KA and PI4K2A.
- Researchers identified two patients with PI4K2A deficiency, linked to neurodevelopmental disorders (NDD) and severe brain malformations, using exome sequencing, and discovered a high mortality rate in affected individuals.
- Cellular assays confirmed that mutations in PI4K2A negatively impact its function, establishing a connection between deficiencies in
Palaeontologists characterize mass extinctions as times when the Earth loses more than three-quarters of its species in a geologically short interval, as has happened only five times in the past 540 million years or so. Biologists now suggest that a sixth mass extinction may be under way, given the known species losses over the past few centuries and millennia. Here we review how differences between fossil and modern data and the addition of recently available palaeontological information influence our understanding of the current extinction crisis.
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