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Updated: May 17, 2026
08:51
Cerebellar Regional Dissection for Molecular Analysis
Published on: December 5, 2020
TTBK2 quinasa: vincula los cilios primarios y las ataxias cerebelares
1Genentech Inc., 1 DNA Way, South San Francisco, CA 94070, USA.
Cell
|November 13, 2012
Resumen
Las mutaciones en la quinasa TTBK2 interrumpen la formación de cilios primarios, lo que lleva a defectos del tubo neural y a una mala regulación de la señalización Sonic hedgehog. Esto sugiere que los cilios son cruciales para prevenir la neurodegeneración, como se ve en la ataxia espinocerebelosa.
Área de la Ciencia:
- Biología celular Biología celular.
- La neurociencia es la neurociencia.
- Genética La genética.
Sus antecedentes:
- Los cilios primarios son orgánulos celulares esenciales involucrados en las vías de señalización, incluido el Sonic hedgehog (Shh).
- Las alteraciones en los cilios primarios conducen a diversos defectos del desarrollo que afectan a órganos como la retina, el riñón y el cerebelo.
- La señalización Shh es crítica para el desarrollo embrionario y a menudo está desregulada en las ciliopatías.
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