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ISSN 1729-6935 (Digital)
16 de abril

2015, Número 259

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16 de abril 2015; 54 (259)


Ciliopatías: bases moleculares y celulares en enfermedades del sistema nervioso

Francis ZD, Ramírez CZ, González NL

Idioma: Español
Referencias bibliográficas: 60
Paginas: 61-74
Archivo PDF: 114.48 Kb.


RESUMEN

Durante mucho tiempo se descartó la importancia estructural y funcional del cilio primario. El avance tecnológico a inicios del presente siglo ha propiciado la comprensión de su relevancia. Debido a su amplia distribución celular, su papel emergente en la transducción de importantes vías de señalización y sus disfunciones, se ha visto implicada en un amplio espectro de enfermedades humanas denominadas ciliopatías, en la que son hallazgos comunes los defectos neurológicos. Reconocer cómo están involucrados los genes asociados a los cilios en diversos síndromes neurológicos ha mejorado el entendimiento de las funciones del cilio primario en el SNC. De acuerdo con lo que se viene diciendo, luego de la revisión de 61 referencias bibliográficas, este análisis pretende describir la relación molecular y morfofuncional de las ciliopatías en el organismo. El conocimiento del cilio primario y del desempeño que se le ha adscrito, permitirá la elucidación de un número importante de enfermedades genéticas asociadas a su disfunción.


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