ID 18. INPP5E-dependent ciliary signaling in Joubert syndrome
- Línea de investigación
- Molecular Mechanisms of Ciliopathies.
- Título
- INPP5E-dependent ciliary signaling in Joubert syndrome.
- Descripción
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Primary cilia are cell type-specific antennae whose transduction of chemical, mechanical or optical signals is essential for human embryonic development and postnatal life. Cilia-dependent processes in our bodies include neural, skeletal and heart development, vision, hearing, cognition, motor control, kidney function, food intake and smell, among others.
Ciliopathies are genetic diseases caused by cilia malfunction. Most ciliopathies are rare diseases affecting multiple organs. This is the case of Joubert-Boltshauser syndrome (JBTS), which affects 1 in 100.000 people and is associated with motor and cognitive deficits, kidney disease, retinal degeneration, and polydactyly.
Mutations in INPP5E, a phosphoinositide phosphatase of the ciliary membrane, cause JBTS. In the lab we use mammalian cell culture models to study how INPP5E regulates growth factor signaling and microtubule dynamics in primary cilia, and how these processes are perturbed in JBTS.
If you are interested, please contact us: francesc.garcia@uam.es
- Tutor
- Francesc Garcia Gonzalo .
- Centro
- Instituto de Investigaciones Biomédicas Sols-Morreale (IIBM).
- Número de plazas ofertadas
- 1.