Publications by authors named "Karin Bois"
Article Synopsis
- FILIP1 is a structural protein that plays a role in the function and integrity of neurons and muscles, and mutations in this protein lead to serious health issues, particularly neurological and muscular disorders.
- Researchers studied five patients from unrelated families who had harmful FILIP1 mutations and found they exhibited a range of symptoms, such as brain malformations and muscle weakness.
- The findings indicate that defective FILIP1 causes a recessive disorder with both neurological and muscular effects, highlighting issues like protein dysregulation and muscle damage typical of a new condition known as FILIP1opathy.
