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

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 recepto...

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Autores principales:	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
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2019
Materias:	Science Q
Acceso en línea:	https://doaj.org/article/7bd71eb6cd81404fb55734268f8473e9
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spelling	oai:doaj.org-article:7bd71eb6cd81404fb55734268f8473e92021-12-02T15:35:11ZBi-allelic variants in RNF170 are associated with hereditary spastic paraplegia10.1038/s41467-019-12620-92041-1723https://doaj.org/article/7bd71eb6cd81404fb55734268f8473e92019-10-01T00:00:00Zhttps://doi.org/10.1038/s41467-019-12620-9https://doaj.org/toc/2041-1723Disturbances 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.Matias WagnerDaniel P. S. OsbornIna GehweilerMaike NagelUlrike UlmerSomayeh BakhtiariRim AmouriReza BoostaniFaycal HentatiMaryam M. HockleyBenedikt HölblingThomas SchwarzmayrEhsan Ghayoor KarimianiChristoph KernstockReza MaroofianWolfgang Müller-FelberEge OzkanSergio Padilla-LopezSelina ReichJennifer ReichbauerHossein DarvishNeda ShahmohammadibeniAbbas TafakhoriKatharina VillStephan ZuchnerMichael C. KruerJuliane WinkelmannYalda JamshidiRebecca SchüleNature PortfolioarticleScienceQENNature Communications, Vol 10, Iss 1, Pp 1-13 (2019)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q 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 Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia
description	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.
format	article
author	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
author_facet	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
author_sort	Matias Wagner
title	Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia
title_short	Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia
title_full	Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia
title_fullStr	Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia
title_full_unstemmed	Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia
title_sort	bi-allelic variants in rnf170 are associated with hereditary spastic paraplegia
publisher	Nature Portfolio
publishDate	2019
url	https://doaj.org/article/7bd71eb6cd81404fb55734268f8473e9
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Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia

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