I
Ina Gehweiler
Researcher at German Center for Neurodegenerative Diseases
Publications - 3
Citations - 80
Ina Gehweiler is an academic researcher from German Center for Neurodegenerative Diseases. The author has contributed to research in topics: Hereditary spastic paraplegia & Ubiquitin ligase. The author has an hindex of 2, co-authored 3 publications receiving 39 citations. Previous affiliations of Ina Gehweiler include University of Tübingen.
Papers
More filters
Journal ArticleDOI
Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia
Matias Wagner,Daniel P. S. Osborn,Ina Gehweiler,Ina Gehweiler,Maike Nagel,Maike Nagel,Ulrike Ulmer,Ulrike Ulmer,Somayeh Bakhtiari,Somayeh Bakhtiari,Rim Amouri,Reza Boostani,Fayçal Hentati,Maryam M. Hockley,Benedikt Hölbling,Benedikt Hölbling,Thomas Schwarzmayr,Ehsan Ghayoor Karimiani,Christoph Kernstock,Reza Maroofian,Wolfgang Müller-Felber,Ege Ozkan,Sergio Padilla-Lopez,Sergio Padilla-Lopez,Selina Reich,Selina Reich,Jennifer Reichbauer,Jennifer Reichbauer,Hossein Darvish,Neda Shahmohammadibeni,Abbas Tafakhori,Katharina Vill,Stephan Züchner,Michael C. Kruer,Michael C. Kruer,Juliane Winkelmann,Yalda Jamshidi,Rebecca Schüle,Rebecca Schüle +38 more
TL;DR: These findings highlight inositol 1,4,5-trisphosphate signaling as a candidate key pathway for hereditary spastic paraplegias and cerebellar ataxias and thus prioritize this pathway for therapeutic interventions.
Journal ArticleDOI
Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia.
Mohammad Ali Farazi Fard,Adriana P. Rebelo,Elena Buglo,Hamid Nemati,Hassan Dastsooz,Ina Gehweiler,Ina Gehweiler,Selina Reich,Selina Reich,Jennifer Reichbauer,Jennifer Reichbauer,Beatriz Quintáns,Andrés Ordóñez-Ugalde,Andrea Cortese,Steve Courel,Lisa Abreu,Eric Powell,Matt C. Danzi,Nicole B. Martuscelli,Dana M. Bis-Brewer,Feifei Tao,Fariba Zarei,Parham Habibzadeh,Majid Yavarian,Farzaneh Modarresi,Mohammad Silawi,Zahra Tabatabaei,Masoume Yousefi,Hamid Reza Farpour,Christoph Kessler,Christoph Kessler,Elisabeth Mangold,Xenia Kobeleva,Ivailo Tournev,Ivailo Tournev,Teodora Chamova,Amelie J. Mueller,Tobias B. Haack,Mark A. Tarnopolsky,Ziv Gan-Or,Ziv Gan-Or,Guy A. Rouleau,Guy A. Rouleau,Matthis Synofzik,Matthis Synofzik,María-Jesús Sobrido,Albena Jordanova,Albena Jordanova,Rebecca Schüle,Rebecca Schüle,Stephan Züchner,Mohammad Ali Faghihi +51 more
TL;DR: It is shown that mRNA in the fibroblasts of affected individuals escapes nonsense-mediated decay and thus leads to the expression of truncated proteins, and UBAP1 provides a bridge toward a more unified pathophysiology.
Journal ArticleDOI
Erratum: Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia (The American Journal of Human Genetics (2019) 104(4) (767–773), (S0002929719300977), (10.1016/j.ajhg.2019.03.001))
Mohammad Ali Farazi Fard,Adriana P. Rebelo,Elena Buglo,Hamid Nemati,Hassan Dastsooz,Ina Gehweiler,Selina Reich,Jennifer Reichbauer,Beatriz Quintáns,Andrés Ordóñez-Ugalde,Andrea Cortese,Steve Courel,Lisa Abreu,Eric Powell,Matt C. Danzi,Nicole B. Martuscelli,Dana M. Bis-Brewer,Feifei Tao,Fariba Zarei,Parham Habibzadeh,Majid Yavarian,Farzaneh Modarresi,Mohammad Silawi,Zahra Tabatabaei,Masoume Yousefi,Hamid Reza Farpour,Christoph Kessler,Elisabeth Mangold,Xenia Kobeleva,Ivailo Tournev,Teodora Chamova,Amelie J. Mueller,Tobias B. Haack,Mark A. Tarnopolsky,Ziv Gan-Or,Guy A. Rouleau,Matthis Synofzik,María Jesús Sobrido,Albena Jordanova,Rebecca Schüle,Stephan Züchner,Mohammad Ali Faghihi +41 more