Publications by authors named "A Berical"
Article Synopsis
- Primary ciliary dyskinesia (PCD) is a rare genetic disorder linked to chronic respiratory issues, infertility, and problems with body asymmetry, primarily caused by mutations in the CCDC39 and CCDC40 genes.
- Researchers used advanced techniques to investigate how these genetic variants impact cellular functions beyond just causing cilia to stop moving.
- They discovered that the absence of CCDC39/CCDC40 creates a significant loss of over 90 ciliary structural proteins, leading to cilia dysfunction and other cellular issues, suggesting that gene therapy could potentially offer a new treatment strategy for PCD.
Article Synopsis
- Primary ciliary dyskinesia (PCD) is a genetic condition that affects tiny hair-like structures called cilia, making them not work properly.
- Researchers studied cells from patients with PCD, their mothers, and healthy people to understand how these cells are different.
- They found specific genes and proteins that were linked to problems in cilia movement, which could help develop new treatments for PCD in the future.
Motile cilia have essential cellular functions in development, reproduction, and homeostasis. Genetic causes for motile ciliopathies have been identified, but the consequences on cellular functions beyond impaired motility remain unknown. Variants in and cause severe disease not explained by loss of motility.
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