Unveiling a New Link: Cholesterol Deficiency in Smith-Lemli-Opitz and Niemann-Pick C as a Driver of Ciliopathies.

Abstract excerpt

The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia-associated proteins. Recently, it has become apparent that the composition of the ciliary membrane influences its function. For instance, the ciliary...

Topics

• Humans
• Cholesterol
• Smith-Lemli-Opitz Syndrome
• Cilia
• Signal Transduction
• Ciliopathies
• Hedgehog Proteins
• Niemann-Pick Disease, Type C
• Animals
• Mutation