Gain of function of TMEM16E/ANO5 scrambling activity caused by a mutation associated with gnathodiaphyseal dysplasia

Mutations in the human TMEM16E (ANO5) gene are associated both with the bone disease gnathodiaphyseal dysplasia (GDD; OMIM: 166260) and muscle dystrophies (OMIM: 611307, 613319). However, the physiological function of TMEM16E has remained unclear. We show here that human TMEM16E, when overexpressed...

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Detalles Bibliográficos
Autores principales: Di Zanni, Eleonora, Gradogna, Antonella, Scholz-Starke, Joachim, Boccaccio, Anna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2017
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5897490/
https://www.ncbi.nlm.nih.gov/pubmed/29124309
http://dx.doi.org/10.1007/s00018-017-2704-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5897490/
https://www.ncbi.nlm.nih.gov/pubmed/29124309
http://dx.doi.org/10.1007/s00018-017-2704-9

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