Mouse model of rare TOR1A variant found in sporadic focal dystonia impairs domains affected in DYT1 dystonia patients and animal models

Rare de novo mutations in genes associated with inherited Mendelian disorders are potential contributors to sporadic disease. DYT1 dystonia is an autosomal dominant, early-onset, generalized dystonia associated with an in-frame, trinucleotide deletion (n. delGAG, p. ΔE 302/303) in the Tor1a gene. He...

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Publicado en:Neurobiol Dis
Main Authors: Bhagat, Srishti L., Qiu, Sunny, Caffall, Zachary F., Wan, Yehong, Pan, Yuanji, Rodriquiz, Ramona M., Wetsel, William C., Badea, Alexandra, Hochgeschwender, Ute, Calakos, Nicole
Formato: Artigo
Idioma:Inglês
Publicado: 2016
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC4939622/
https://ncbi.nlm.nih.gov/pubmed/27168150
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nbd.2016.05.003
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