Abnormalities of motor function, transcription and cerebellar structure in mouse models of THAP1 dystonia

DYT6 dystonia is caused by mutations in THAP1 [Thanatos-associated (THAP) domain-containing apoptosis-associated protein] and is autosomal dominant and partially penetrant. Like other genetic primary dystonias, DYT6 patients have no characteristic neuropathology, and mechanisms by which mutations in...

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Publicat a:Hum Mol Genet
Autors principals: Ruiz, Marta, Perez-Garcia, Georgina, Ortiz-Virumbrales, Maitane, Méneret, Aurelie, Morant, Andrika, Kottwitz, Jessica, Fuchs, Tania, Bonet, Justine, Gonzalez-Alegre, Pedro, Hof, Patrick R., Ozelius, Laurie J., Ehrlich, Michelle E.
Format: Artigo
Idioma:Inglês
Publicat: Oxford University Press 2015
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Articles
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4757965/
https://ncbi.nlm.nih.gov/pubmed/26376866
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddv384
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