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Hum Mol Genet ; 28(6): 961-971, 2019 03 15.
Artigo em Inglês | MEDLINE | ID: mdl-30476097

RESUMO

Spastic paraplegia gene 11(SPG11)-linked hereditary spastic paraplegia is a complex monogenic neurodegenerative disease that in addition to spastic paraplegia is characterized by childhood onset cognitive impairment, thin corpus callosum and enlarged ventricles. We have previously shown impaired proliferation of SPG11 neural progenitor cells (NPCs). For the delineation of potential defect in SPG11 brain development we employ 2D culture systems and 3D human brain organoids derived from SPG11 patients' iPSC and controls. We reveal that an increased rate of asymmetric divisions of NPCs leads to proliferation defect, causing premature neurogenesis. Correspondingly, SPG11 organoids appeared smaller than controls and had larger ventricles as well as thinner germinal wall. Premature neurogenesis and organoid size were rescued by GSK3 inhibititors including the Food and Drug Administration-approved tideglusib. These findings shed light on the neurodevelopmental mechanisms underlying disease pathology.


Assuntos
Córtex Cerebral/embriologia , Córtex Cerebral/metabolismo , Neurogênese/genética , Proteínas/genética , Alelos , Biomarcadores , Córtex Cerebral/fisiopatologia , Transtornos Cognitivos/genética , Transtornos Cognitivos/fisiopatologia , Suscetibilidade a Doenças , Imunofluorescência , Genótipo , Quinase 3 da Glicogênio Sintase/metabolismo , Humanos , Mutação , Organoides , Fenótipo , beta Catenina
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