Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia

Alterations of Ca(2+) homeostasis have been implicated in a wide range of neurodegenerative diseases. Ca(2+) efflux from the endoplasmic reticulum into the cytoplasm is controlled by binding of inositol 1,4,5-trisphosphate to its receptor. Activated inositol 1,4,5-trisphosphate receptors are then ra...

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Detalles Bibliográficos
Autores principales: Wagner, Matias, Osborn, Daniel P. S., Gehweiler, Ina, Nagel, Maike, Ulmer, Ulrike, Bakhtiari, Somayeh, Amouri, Rim, Boostani, Reza, Hentati, Faycal, Hockley, Maryam M., Hölbling, Benedikt, Schwarzmayr, Thomas, Karimiani, Ehsan Ghayoor, Kernstock, Christoph, Maroofian, Reza, Müller-Felber, Wolfgang, Ozkan, Ege, Padilla-Lopez, Sergio, Reich, Selina, Reichbauer, Jennifer, Darvish, Hossein, Shahmohammadibeni, Neda, Tafakhori, Abbas, Vill, Katharina, Zuchner, Stephan, Kruer, Michael C., Winkelmann, Juliane, Jamshidi, Yalda, Schüle, Rebecca
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6803694/
https://www.ncbi.nlm.nih.gov/pubmed/31636353
http://dx.doi.org/10.1038/s41467-019-12620-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6803694/
https://www.ncbi.nlm.nih.gov/pubmed/31636353
http://dx.doi.org/10.1038/s41467-019-12620-9

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