What question did this study set out to answer?

To review the biological function of the cilium and examine how its dysfunction leads to single-gene disorders known as ciliopathies.

April 20, 2011New England Journal of MedicineOpen Access

Ciliopathies

View Full Paper

Ask AI

Bookmark

To review the biological function of the cilium and examine how its dysfunction leads to single-gene disorders known as ciliopathies.
Synthesized literature on the molecular structure, protein composition, and disease mechanisms associated with the cilium–centrosome complex.
Dysfunction of the cilium, a hairlike cellular organelle, drives the pathogenesis of diverse single-gene ciliopathies.
Most disease-causing proteins identified in ciliopathies specifically localize to and operate within the cilium–centrosome complex.

Discussion

No takes yet. Share an insight, caveat, or question.

Implication

Review uncovers the cellular mechanisms of dysfunctional cilia in single-gene disorders, highlighting the organelle's fundamental role in human disease.

Cite This Study

Hildebrandt et al. (2011) studied this question.

synapsesocial.com/papers/69d80fe1617ce96c42ae2c00 https://doi.org/10.1056/nejmra1010172

View Full Paper

Ask AI

Bookmark

Implication

Review uncovers the cellular mechanisms of dysfunctional cilia in single-gene disorders, highlighting the organelle's fundamental role in human disease.

Ciliopathies

Key Points

Discussion

Implication

Cite This Study

Ciliopathies

Key Points

Discussion

Implication

Cite This Study

Also Consider

Also Consider