Nature Communications (Oct 2019)
Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia
- Matias Wagner,
- Daniel P. S. Osborn,
- Ina Gehweiler,
- Maike Nagel,
- Ulrike Ulmer,
- Somayeh Bakhtiari,
- Rim Amouri,
- Reza Boostani,
- Faycal Hentati,
- Maryam M. Hockley,
- Benedikt Hölbling,
- Thomas Schwarzmayr,
- Ehsan Ghayoor Karimiani,
- Christoph Kernstock,
- Reza Maroofian,
- Wolfgang Müller-Felber,
- Ege Ozkan,
- Sergio Padilla-Lopez,
- Selina Reich,
- Jennifer Reichbauer,
- Hossein Darvish,
- Neda Shahmohammadibeni,
- Abbas Tafakhori,
- Katharina Vill,
- Stephan Zuchner,
- Michael C. Kruer,
- Juliane Winkelmann,
- Yalda Jamshidi,
- Rebecca Schüle
Affiliations
- Matias Wagner
- Institute of Human Genetics, Technische Universität München
- Daniel P. S. Osborn
- Genetics Centre, Molecular and Clinical Sciences Institute, St George’s University of London
- Ina Gehweiler
- Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen
- Maike Nagel
- Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen
- Ulrike Ulmer
- Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen
- Somayeh Bakhtiari
- Barrow Neurological Institute, Phoenix Children’s Hospital
- Rim Amouri
- Neurology Department, Mongi Ben Hmida National Institute of Neurology
- Reza Boostani
- Department of Neurology
- Faycal Hentati
- Neurology Department, Mongi Ben Hmida National Institute of Neurology
- Maryam M. Hockley
- Departments of Child Health, Cellular & Molecular Medicine, Genetics, and Neurology, University of Arizona College of Medicine
- Benedikt Hölbling
- Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen
- Thomas Schwarzmayr
- Institut für Neurogenomik, Helmholtz Zentrum München
- Ehsan Ghayoor Karimiani
- Genetics Centre, Molecular and Clinical Sciences Institute, St George’s University of London
- Christoph Kernstock
- Centre for Ophthalmology, Institute for Ophthalmic Research, University of Tübingen
- Reza Maroofian
- Genetics Centre, Molecular and Clinical Sciences Institute, St George’s University of London
- Wolfgang Müller-Felber
- Department of Pediatric Neurology and Developmental Medicine, Ludwig-Maximilians-University of Munich
- Ege Ozkan
- Genetics Centre, Molecular and Clinical Sciences Institute, St George’s University of London
- Sergio Padilla-Lopez
- Barrow Neurological Institute, Phoenix Children’s Hospital
- Selina Reich
- Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen
- Jennifer Reichbauer
- Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen
- Hossein Darvish
- Cancer Research Center, Semnan University of Medical Sciences
- Neda Shahmohammadibeni
- Cancer Research Center, Semnan University of Medical Sciences
- Abbas Tafakhori
- Iranian Center of Neurological Research, Neuroscience Institute, Tehran University of Medical Sciences
- Katharina Vill
- Department of Pediatric Neurology and Developmental Medicine, Ludwig-Maximilians-University of Munich
- Stephan Zuchner
- Dr. John T. Macdonald Foundation, Department of Human Genetics
- Michael C. Kruer
- Barrow Neurological Institute, Phoenix Children’s Hospital
- Juliane Winkelmann
- Institute of Human Genetics, Technische Universität München
- Yalda Jamshidi
- Genetics Centre, Molecular and Clinical Sciences Institute, St George’s University of London
- Rebecca Schüle
- Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen
- DOI
- https://doi.org/10.1038/s41467-019-12620-9
- Journal volume & issue
-
Vol. 10,
no. 1
pp. 1 – 13
Abstract
Disturbances in IP3 receptor-mediated release of Ca2+ from the endoplasmatic reticulum are associated with neurodegenerative disease. Here, the authors identify in four families with hereditary spastic paraplegia biallelic mutations in RNF170 that associate with increased basal levels of IP3 receptors.
