Article
Synapse alterations precede neuronal damage and storage pathology in a human cerebral organoid model of CLN3-juvenile neuronal ceroid lipofuscinosis.
Acta neuropathologica communications - 30 Dec 2019
Gomez-Giro Gemma, Arias-Fuenzalida Jonathan, Jarazo Javier, Zeuschner Dagmar, Ali Muhammad, Possemis Nina, Bolognin Silvia, Halder Rashi, Jäger Christian, Kuper Willemijn F E, van Hasselt Peter M, Zaehres Holm, Del Sol Antonio, van der Putten Herman, Schöler Hans R, Schwamborn Jens C
Abstract excerpt
The juvenile form of neuronal ceroid Lipofuscinosis (JNCL) is the most common form within this group of rare lysosomal storage disorders, causing pediatric neurodegeneration. The genetic disorder, which is caused by recessive mutations affecting the CLN3 gene, features progressive vision loss, cognitive and motor decline and other psychiatric conditions, seizure episodes, leading to premature death. Animal models...
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