Article

Disease modeling with human neurons reveals LMNB1 dysregulation underlying DYT1 dystonia

2020-08-12

Abstract excerpt

DYT1 dystonia is a hereditary neurological disease caused by a heterozygous mutation in torsin A ( TOR1A ). While animal models provide insights into disease mechanisms, significant species-dependent differences exist since mice with the identical heterozygous mutation fail to show pathology. Here, we model DYT1 by using human patient-derived motor neurons. These neurons with the heterozygous TOR1A mutation sho...

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Literature Corpus work: dd0a6b06-c9a2-5043-8d9f-26e8d5950891
DOI: 10.1101/2020.08.11.246371

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Disease modeling with human neurons reveals LMNB1 dysregulation underlying DYT1 dystoniaDOI 10.1101/2020.08.11.246371Read

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