The Guanine nucleotide exchange factor kalirin-7 is a novel synphilin-1 interacting protein and modifies synphilin-1 aggregate transport and formation.

Autor: Yu-Chun Tsai, Olaf Riess, Anne S Soehn, Huu Phuc Nguyen

Publikováno v: PLoS ONE, Vol 7, Iss 12, p e51999 (2012)

Synphilin-1 has been identified as an interaction partner of α-synuclein, a key protein in the pathogenesis of Parkinson disease (PD). To further explore novel binding partners of synphilin-1, a yeast two hybrid screening was performed and kalirin-7

Externí odkaz: https://doaj.org/article/733cddc66a51454a8b755f5aaa2ddbd1

Hypomorphic mutations in POLR_{3}A$ are a frequent cause of sporadic and recessive spastic ataxia

Autor: Ina Schmitt, Oliver Brüstle, Rajech Sharkia, Kristina Rehbach, Stefan Herms, Jennifer Reichbauer, Feifei Tao, Peter De Jonghe, Susanne Greschus, Garth A. Nicholson, Alfredo Ramirez, Stefanie Heilmann-Heimbach, Ludger Schöls, Michael E. Shy, Thomas Klockgether, Paolo Carloni, Holger Wagner, Dagmar Timmann, Claudia Stendel, Delia Kurzwelly, Marina L. Kennerson, Matthis Synofzik, Patrick F. Chinnery, Wolfgang Maier, Stephan Züchner, Peter Bauer, Angela Pyle, Tim W. Rattay, Michael Peitz, Katrin Amunts, Burcu Atasu, Rüdiger Stirnberg, Holger Hengel, Jonathan Baets, Shawna M. E. Feely, Jürgen Kohlhase, Holger Thiele, M. Lennarz, Janine Altmüller, Ilker Karaca, Katherine D. Mathews, Muhammad Mahanjah, Tobias Lindig, Johanna Jung, Alejandro Giorgetti, Rebecca Schüle, Ebba Lohmann, Marc Sturm, Michael Wolf, Rita Horvath, Thomas Klopstock, Michael A. Gonzalez, Martina Minnerop, Peter Nürnberg, Anne S. Soehn, Sandra Roeske

Publikováno v: Brain
Brain 140(6), 1561-1578 (2017). doi:10.1093/brain/awx095

Despite extensive efforts, half of patients with rare movement disorders such as hereditary spastic paraplegias and cerebellar ataxias remain genetically unexplained, implicating novel genes and unrecognized mutations in known genes. Non-coding DNA v

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e5b4967b5395f39db1a93672e9e798b
https://hdl.handle.net/10067/1426480151162165141

Uniparental disomy of chromosome 16 unmasks recessive mutations of FA2H/SPG35 in 4 families

Autor: Montserrat Ruiz, Stephan Züchner, Anne S. Soehn, Tim W. Rattay, Aurora Pujol, David Monk, Konstanze Hörtnagel, Olaf Riess, Marion Döbler-Neumann, Peter Bauer, Stefanie Beck-Wödl, Karin Schäferhoff, Agatha Schlüter, Ludger Schöls, Rebecca Schüle

Publikováno v: Dipòsit Digital de la UB
Universidad de Barcelona
Recercat. Dipósit de la Recerca de Catalunya
instname
Neurology 87(2), 186-191 (2016). doi:10.1212/WNL.0000000000002843

Objective: Identifying an intriguing mechanism for unmasking recessive hereditary spastic paraplegias. Method: Herein, we describe 4 novel homozygous FA2H mutations in 4 nonconsanguineous families detected by whole-exome sequencing or a targeted gene

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b8cb1816590241a1d3d1d62e2ce7633a
http://hdl.handle.net/2445/126828

The proteasomal subunit S6 ATPase is a novel synphilin‐1 interacting protein—implications for Parkinson's disease

Autor: Carola Schiesling, Frank P. Marx, Olaf Riess, Christian Melle, Sabine Kautzmann, Simone Engelender, Anne S. Soehn, Thomas Franck, Daniela Berg, Jörg B. Schulz, Jens Pahnke, Karsten M. Strauss, Rejko Krüger, Simon Dawson, Ferdinand von Eggeling, Mira Lang

Publikováno v: The FASEB Journal. 21:1759-1767

Synphilin-1 is linked to Parkinson's disease (PD), based on its role as an alpha-synuclein (PARK1)-interacting protein and substrate of the ubiquitin E3 ligase Parkin (PARK2) and because of its presence in Lewy bodies (LB) in brains of PD patients. W

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b97cdbdab119d7b4a509bfda9d1874f
https://doi.org/10.1096/fj.06-6734com

Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum

Autor: Friedmar Kreuz, Johannes Schwarz, Janina Gburek-Augustat, Stefan Krüger, Jan Senderek, Martin Schöning, Julia Schicks, Karl-Titus Hoffmann, Sabine Rudnik-Schöneborn, Matthis Synofzik, Kathrin N. Karle, Patrick MacLeod, Peter Bauer, Rebecca Schüle, Saskia Biskup, Tobias B. Haack, Ludger Schöls, Benjamin Bender, Anne S. Soehn

Publikováno v: Orphanet Journal of Rare Diseases
Orphanet journal of rare diseases 8(1), 41 (2013). doi:10.1186/1750-1172-8-41
Orphanet journal of rare diseases 8, 41 (2013). doi:10.1186/1750-1172-8-41

Orphanet journal of rare diseases 8, 41 (2013). doi:10.1186/1750-1172-8-41
Published by BioMed Central, London

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91166a2e3e26225578292f228866ecc2
https://pubmed.ncbi.nlm.nih.gov/23497566