Combined Dendritic and Axonal Deterioration Are Responsible for Motoneuronopathy in Patient-Derived Neuronal Cell Models of Chorea-Acanthocytosis

Combined Dendritic and Axonal Deterioration Are Responsible for Motoneuronopathy in Patient-Derived Neuronal Cell Models of Chorea-Acanthocytosis

Chorea acanthocytosis (ChAc), an ultra-rare devastating neurodegenerative disease, is caused by mutations in the <i>VPS13A</i> gene, which encodes for the protein chorein. Affected patients suffer from chorea, orofacial dyskinesia, epilepsy, parkinsonism as well as peripheral neuropathy....

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Bibliographic Details
Main Authors: Hannes Glaß, Patrick Neumann, Arun Pal, Peter Reinhardt, Alexander Storch, Jared Sterneckert, Andreas Hermann
Format: Article
Language:English
Published: MDPI AG 2020-03-01
Series:International Journal of Molecular Sciences
Subjects:
organelle trafficking
human induced pluripotent stem cells (ipsc)
chorea acanthocytosis (chac)
microfluidic chambers (mfcs)
lysosomes
mitochondria
motoneurons (mn)
Online Access:https://www.mdpi.com/1422-0067/21/5/1797

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https://www.mdpi.com/1422-0067/21/5/1797

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