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Proc Natl Acad Sci U S A ; 115(4): E762-E771, 2018 01 23.
Artículo en Inglés | MEDLINE | ID: mdl-29311338

RESUMEN

Increasing evidence suggests that early neurodevelopmental defects in Huntington's disease (HD) patients could contribute to the later adult neurodegenerative phenotype. Here, by using HD-derived induced pluripotent stem cell lines, we report that early telencephalic induction and late neural identity are affected in cortical and striatal populations. We show that a large CAG expansion causes complete failure of the neuro-ectodermal acquisition, while cells carrying shorter CAGs repeats show gross abnormalities in neural rosette formation as well as disrupted cytoarchitecture in cortical organoids. Gene-expression analysis showed that control organoid overlapped with mature human fetal cortical areas, while HD organoids correlated with the immature ventricular zone/subventricular zone. We also report that defects in neuroectoderm and rosette formation could be rescued by molecular and pharmacological approaches leading to a recovery of striatal identity. These results show that mutant huntingtin precludes normal neuronal fate acquisition and highlights a possible connection between mutant huntingtin and abnormal neural development in HD.


Asunto(s)
Enfermedad de Huntington/fisiopatología , Neurogénesis , Línea Celular , Polaridad Celular , Humanos , Enfermedad de Huntington/genética , Células Madre Pluripotentes Inducidas , Telencéfalo/citología
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