Prof. Dr. Jeannette Hübener-Schmid

Molekulargenetik

+49 7121 271 2061

jeannette.huebener-schmid@reutlingen-university.de

Gebäude 2, Raum 118

Nach Vereinbarung

Beauftragte für Stipendien in der Fakultät Life Sciences

Im Bachelor Biomedizinische Wissenschaften

BWB14 - Analytische Methoden und Molekularbiologie (HIER ABER nur: 2SWS: Molekularbiologie und Genetik)
BWB20 - Molekulare Biomedizin
BWB30A - Diagnostik und Pharmakologie (HIER ABER nur: 2 SWS Diagnostik)

Im Master Biomedical Science

BMSW03 - Analytical Methods in Biomedical Science (HIER ABER nur: 2 SWS Analytical Methods)

Labor Bioanalytik
Bachelor- und Masterarbeiten
Praxisphase I und II

Molekularbiologie
(Human)Genetik
Diagnostik
Bioanalytik
Molekularbiologische Methoden
Analytische Methoden

Neurodegenerative Erkrankungen
(Moleklulare) Biomarker
Entwicklung & Validierung ultrasensitiver Messverfahren
Standardisierung in Biomedizinischer Froschung
Aufklärung von Pathogenese-relevanten Pathways
Entwicklung von Gentherapeutischen Ansätzen
Präklinische Modelle und Nutzung dieser in Therapie-relevanten Fragestellungen

Hübener-Schmid, Jeannette

2026
Maas, Roderick P.P.W.M.; Garcia-Moreno, Hector; Faber, Jennifer; Gonzalez, Carlos; Schöls, Ludger; de Vries, Jeroen J.; Bushara, Khalaf; Reetz, Kathrin; Onyike, Chiadi U.; Jacobi, Heike; Erdlenbruch, Friedrich; Infante, Jon; Santana, Magda M.; Hübener-Schmid, Jeannette; de Almeida, Luís Pereira; Lima, Manuela; Giunti, Paola; Klockgether, Thomas; van de Warrenburg, Bart P.C.; Timmann, Dagmar; Thieme, Andreas; Öz, Gülin; Povazan, Michal (2026): Cognitive impairment in SCA3: A multi-center cohort study with demographic, imaging, and biomarker correlates. - In: Neurobiology of Disease 220. - Artikelnummer: 107301. - 8 S. - DOI: https://doi.org/10.1016/j.nbd.2026.107301	BibTeX \| RIS DOI URN
Grobe‐Einsler, Marcus; Maas, Vivian; Amin, Arian Taheri; Faber, Jennifer; Schaprian, Tamara; Hill, Katharina; Synofzik, Matthis; Graf, Lisa; Jacobi, Heike; Lima, Manuela; Ferreira, Ana; van de Warrenburg, Bart; Willemse, Ilse; Timmann, Dagmar; Thieme, Andreas; Giunti, Paola; Garcia‐Moreno, Hector; Santana, Magda; Hübener‐Schmid, Jeannette; Davies, Elin; Klockgether, Thomas (2026): Remote assessment of ataxia severity in SCA3 across multiple centers and time points. - In: Annals of clinical and translational neurology (Early view). - Artikelnummer: acn3.70316. - 9 S. - DOI: https://doi.org/10.1002/acn3.70316	BibTeX \| RIS DOI URN
Silva, Patrick; Costa, Marina A.; Gaspar, Laetitia; Durães, João; Cunha, Inês; Ribeiro, Joana A; Januário, Cristina; Oliveiros, Bárbara; Hübener-Schmid, Jeannette; Faber, Jennifer; Raposo, Mafalda; Lima, Manuela; Garcia-Moreno, Hector; Giunti, Paola; Beichert, Lukas; Schöls, Ludger; van de Warrenburg, Bart P.; de Vries, Jeroen; Thieme, Andreas; Reetz, Kathrin; Jacobi, Heike; Infante, Jon; Klockgether, Thomas; Ferreira, Ana; Rosa, Ana; Gonzalez, Carlos; Gonzalez-Robles, Cristina; Timmann, Dagmar; Erdlenbruch, Friedrich; Lemos, João; Vasconcelos, João; Teves, Luís; Pires, Paula; Lopes, Pedro; Coelho, Pedro; Kay, Teresa; de Almeida, Luís Pereira; Santana, Magda M. (2026): The medication patterns of spinocerebellar ataxia type 3 mutation carriers enrolled in the ESMI cohort. - In: CNS Drugs 40. - S. 233-246. - DOI: https://doi.org/10.1007/s40263-025-01237-w	BibTeX \| RIS DOI URN
2025
Lauerer, Marilena; Faber, Jennifer; Casadei, Nicolas; Santana, Magda M.; Auburger, Georg; Pogoda, Michaela; Admard, Jakob; Kaupp, Lea; Kos, Patricia Laura; Raposo, Mafalda; Lima, Manuela; de Almeida, Luis Pereira; Garcia-Moreno, Hector; Giunti, Paola; de Vries, Jeroen; van de Warrenburg, Bart P.; van Gaalen, Judith; Grobe-Einsler, Marcus; Koyak, Berkan; Reetz, Kathrin; Erdlenbruch, Friedrich; Jacobi, Heike; Infante, Jon; Hengel, Holger; Schöls, Ludger; Klockgether, Thomas; Rieß, Olaf; Hübener-Schmid, Jeannette (2025): Influence of ATXN2 intermediate CAG repeats, 9bp duplication and alternative splicing on SCA3 pathogenesis. - In: Acta Neuropathologica Communications 13 (1). - Artikelnummer: 157. - 22 S. - DOI: https://doi.org/10.1186/s40478-025-02074-0	BibTeX \| RIS DOI URN
Berger, Moritz; Garcia-Moreno, Hector; Ferreira, Mónica; Hübener-Schmid, Jeannette; Schaprian, Tamara; Wegner, Philipp; Elter, Tim; Teichmann, Kennet M.; Santana, Magda M.; Grobe-Einsler, Marcus; Oender, Demet; Koyak, Berkan S.C.; Bernsen, Sarah; Pereira de Almeida, Luís; Silva, Patrick; Ribeiro, Joana Afonso; Cunha, Inês; Gonzalez-Robles, Cristina; Khan, Shamsher; Heslegrave, Amanda; Zetterberg, Henrik; Lima, Manuela; Raposo, Mafalda; Ferreira, Ana F.; Vasconcelos, João; van de Warrenburg, Bart P.; van Gaalen, Judith; van Prooije, Teije H.; de Vries, Jeroen; Schols, Ludger; Riess, Olaf; Synofzik, Matthis; Timmann, Dagmar; Thieme, Andreas; Erdlenbruch, Friedrich; Infante, Jon; Pelayo-Negro, Ana L.; Manrique, Leire; Reetz, Kathrin; Dogan, Imis; Oz, Gulin; Joers, James M.; Bushara, Khalafalla; Onyike, Chiadikaobi; Povazan, Michal; Jacobi, Heike; Schmahmann, Jeremy D.; Ratai, Eva-Maria; Schmid, Matthias; Faber, Jennifer; Giunti, Paola; Klockgether, Thomas (2025): Progression of biological markers in spinocerebellar ataxia type 3: longitudinal analysis of prospective data from the ESMI cohort. - In: The Lancet Regional Health Europe 55. - Artikelnummer: 101339. - 11 S. - DOI: https://doi.org/10.1016/j.lanepe.2025.101339	BibTeX \| RIS DOI URN
2024
Raposo, Mafalda; Hübener-Schmid, Jeannette; Tagett, Rebecca; Ferreira, Ana F.; Vieira Melo, Ana Rosa; Vasconcelos, João; Pires, Paula; Kay, Teresa; Garcia-Moreno, Hector; Giunti, Paola; Santana, Magda M.; Pereira de Almeida, Luis; Infante, Jon; van de Warrenburg, Bart P.; de Vries, Jeroen J.; Faber, Jennifer; Klockgether, Thomas; Casadei, Nicolas; Admard, Jakob; Schöls, Ludger; Riess, Olaf; Costa, Maria do Carmo; Lima, Manuela (2024): Blood and cerebellar abundance of ATXN3 splice variants in spinocerebellar ataxia type 3/Machado-Joseph disease. - In: Neurobiology of Disease 193. - Artikelnummer: 106456. - 11 S. - DOI: https://doi.org/10.1016/j.nbd.2024.106456	BibTeX \| RIS DOI URN
Weber, Niklas; Buchholz, Maresa; Rädke, Anika; Faber, Jennifer; Schmitz-Hübsch, Tanja; Jacobi, Heike; Klockgether, Thomas; Hoffmann, Wolfgang; Michalowsky, Bernhard; du Montcel, Sophie Tezenas; Bauer, Peter; Giunti, Paola; Cook, Arron; Labrum, Robyn; Parkinson, Michael H.; Durr, Alexandra; Brice, Alexis; Charles, Perrine; Marelli, Cecilia; Mariotti, Caterina; Nanetti, Lorenzo; Panzeri, Marta; Rakowicz, Maria; Sulek, Anna; Sobanska, Anna; Schöls, Ludger; Hengel, Holger; Baliko, Laszlo; Melegh, Bela; Filla, Alessandro; Antenora, Antonella; Infante, Jon; Berciano, José; van de Warrenburg, Bart P.; Timmann, Dagmar; Szymanski, Sandra; Boesch, Sylvia; Kang, Jun-Suk; Pandolfo, Massimo; Schulz, Jörg B.; Molho, Sonia; Diallo, Alhassane; Hübener-Schmid, Jeanette; Santana, Magda; Grobe-Einsler, Marcus; Koyak, Berkan; Raposo, Mafalda; Lima, Manuela; Garcia-Moreno, Hector; Pereira de Almeida, Luís; van Gaalen, Judith; Thieme, Andreas; Reetz, Kathrin; Dogan, Imis; Wilke, Carlo; Riess, Olaf; Synofzik, Matthis; de Vries, Jeroen; Gulin, Oz; Joers, James; Onyike, Chiadikaobi; Povazan, Michal; Ratai, Eva-Maria; Schmahmann, Jeremy (2024): Factors influencing health-related quality of life of patients with spinocerebellar ataxia. - In: The Cerebellum 23 (4). - S. 1466-1477. - DOI: https://doi.org/10.1007/s12311-024-01657-2	BibTeX \| RIS DOI URN
Elter, Tim Lukas; Sturm, Daniel; Santana, Magda M.; Schaprian, Tamara; Raposo, Mafalda; Melo, Ana Rosa Vieira; Lima, Manuela; Koyak, Berkan; Oender, Demet; Grobe-Einsler, Marcus; Lopes, Sara; Silva, Patrick; de Almeida, Luís Pereira; Giunti, Paola; Garcia-Moreno, Hector; Nethisinhe, Suran; de Vries, Jeroen; van de Warrenburg, Bart P.; van Gaalen, Judith; Synofzik, Matthis; Schöls, Ludger; Reetz, Kathrin; Erdlenbruch, Friedrich; Jacobi, Heike; Infante, Jon; Riess, Olaf; Klockgether, Thomas; Timmann, Dagmar; Thieme, Andreas; Faber, Jennifer; Hübener-Schmid, Jeannette (2024): Regional distribution of polymorphisms associated to the disease-causing gene of spinocerebellar ataxia type 3. - In: Journal of Neurology 272 (1). - Artikelnummer: 54. - 12 S. - DOI: https://doi.org/10.1007/s00415-024-12829-9	BibTeX \| RIS DOI URN
2023
Santana, Magda M.; Gaspar, Laetitia S.; Pinto, Maria M.; Silva, Patrick; Adão, Diana; Pereira, Dina; Ribeiro, Joana Afonso; Cunha, Inês; Hübener‐Schmid, Jeannette; Raposo, Mafalda; Ferreira, Ana F.; Faber, Jennifer; Kuhs, Sandra; Garcia‐Moreno, Hector; Reetz, Kathrin; Thieme, Andreas; Infante, Jon; van de Warrenburg, Bart P. C.; Giunti, Paola; Riess, Olaf; Schöls, Ludger; Lima, Manuela; Klockgether, Thomas; Januário, Cristina; Pereira de Almeida, Luís (2023): A standardised protocol for blood and cerebrospinal fluid collection and processing for biomarker research in ataxia. - In: Neuropathology and Applied Neurobiology 49 (2). - Artikelnummer: e12892. - 14 S. - DOI: https://doi.org/10.1111/nan.12892	BibTeX \| RIS DOI URN
Raposo, Mafalda; Hübener-Schmid, Jeannette; Ferreira, Ana F; Vieira Melo, Ana Rosa; Vasconcelos, João; Pires, Paula; Kay, Teresa; Garcia-Moreno, Hector; Giunti, Paola; Santana, Magda M; Pereira de Almeida, Luis; Infante, Jon; van de Warrenburg, Bart P; de Vries, Jeroen J; Faber, Jennifer; Klockgether, Thomas; Casadei, Nicolas; Admard, Jakob; Schöls, Ludger; Krahe, Janna; Reetz, Kathrin; González, José; Gonzalez, Carlos; Baptista, Carlos; Lemos, João; Giordano, Ilaria; Grobe-Einsler, Marcus; Önder, Demet; Silva, Patrick; Januário, Cristina; Ribeiro, Joana; Cunha, Inês; Lemos, João; Pinto, Maria M; Timmann, Dagmar; Steiner, Katharina M; Thieme, Andreas; Ernst, Thomas M; Jacobi, Heike; Solanky, Nita; Gonzalez-Robles, Cristina; Van Gaalen, Judith; Pelayo-Negro, Ana Lara; Manrique, Leire; Hengel, Holger; Synofzik, Matthis; Ilg, Winfried; Riess, Olaf; Lima, Manuela (2023): Blood transcriptome sequencing identifies biomarkers able to track disease stages in spinocerebellar ataxia type 3. - In: Brain 146 (10). - S. 4132-4143. - DOI: https://doi.org/10.1093/brain/awad128	BibTeX \| RIS DOI
Hengel, Holger; Martus, Peter; Faber, Jennifer; Giunti, Paola; Garcia-Moreno, Hector; Solanky, Nita; Klockgether, Thomas; Reetz, Kathrin; van de Warrenburg, Bart P.; Santana, Magda M.; Silva, Patrick; Cunha, Inês; de Almeida, Luís Pereira; Timmann, Dagmar; Infante, Jon; de Vries, Jeroen; Lima, Manuela; Pires, Paula; Bushara, Khalaf; Jacobi, Heike; Onyike, Chiadi; Schmahmann, Jeremy D.; Hübener-Schmid, Jeannette; Synofzik, Matthis; Schöls, Ludger (2023): Correction to: The frequency of non‑motor symptoms in SCA3 and their association with disease severity and lifestyle factors. - In: Journal of Neurology 271 (1). - S. 628-629. - DOI: https://doi.org/10.1007/s00415-023-12064-8	BibTeX \| RIS DOI URN
Buchholz, Maresa; Weber, Niklas; Rädke, Anika; Faber, Jennifer; Schmitz-Hübsch, Tanja; Jacobi, Heike; Xie, Feng; Klockgether, Thomas; Michalowsky, Bernhard; du Montcel, Sophie Tezenas; Bauer, Peter; Giunti, Paola; Cook, Arron; Labrum, Robyn; Parkinson, Michael H.; Durr, Alexandra; Brice, Alexis; Charles, Perrine; Marelli, Cecilia; Mariotti, Caterina; Nanetti, Lorenzo; Panzeri, Marta; Rakowicz, Maria; Sulek, Anna; Sobanska, Anna; Schöls, Ludger; Hengel, Holger; Baliko, Laszlo; Melegh, Bela; Filla, Alessandro; Antenora, Antonella; Infante, Jon; Berciano, José; van de Warrenburg, Bart P.; Timmann, Dagmar; Szymanski, Sandra; Boesch, Sylvia; Kang, Jun-Suk; Pandolfo, Massimo; Schulz, Jörg B.; Molho, Sonia; Diallo, Alhassane; Hübener-Schmid, Jeanette; Santana, Magda; Grobe-Einsler, Marcus; Koyak, Berkan; Raposo, Mafalda; Lima, Manuela; Garcia-Moreno, Hector; Pereira de Almeida, Luís; van Gaalen, Judith; Thieme, Andreas; Reetz, Kathrin; Dogan, Imis; Wilke, Carlo; Riess, Olaf; Synofzik, Matthis; de Vries, Jeroen; Gulin, Oz; Joers, James; Onyike, Chiadikaobi; Povazan, Michal; Ratai, Eva-Maria; Schmahmann, Jeremy (2023): Health-related quality of life in patients with spinocerebellar ataxia: a validation study of the EQ-5D-3L. - In: The Cerebellum 23 (3). - S. 1020-1030. - DOI: https://doi.org/10.1007/s12311-023-01597-3	BibTeX \| RIS DOI URN
Uebachs, Mischa; Wegner, Philipp; Schaaf, Sebastian; Kugai, Simon; Jacobi, Heike; Kuo, Sheng-Han; Ashizawa, Tetsuo; Fluck, Juliane; du Montcel, Sophie Tezenas; Bauer, Peter; Giunti, Paola; Cook, Arron; Labrum, Robyn; Parkinson, Michael H.; Durr, Alexandra; Brice, Alexis; Charles, Perrine; Marelli, Cecilia; Mariotti, Caterina; Nanetti, Lorenzo; Panzeri, Marta; Rakowicz, Maria; Sulek, Anna; Sobanska, Anna; Schmitz-Hübsch, Tanja; Schöls, Ludger; Hengel, Holger; Baliko, Laszlo; Melegh, Bela; Filla, Alessandro; Antenora, Antonella; Infante, Jon; Berciano, José; van de Warrenburg, Bart P.; Timmann, Dagmar; Szymanski, Sandra; Boesch, Sylvia; Kang, Jun-Suk; Pandolfo, Massimo; Schulz, Jörg B.; Molho, Sonia; Diallo, Alhassane; Klockgether, Thomas; Grobe-Einsler, Marcus; Önder, Demet; Raposo, Mafalda; Vasconcelos, João; Lima, Manuela; Pereira de Almeida, Luís; Silva, Patrick; Hübener-Schmid, Jeannette; Faber, Jennifer; Cunha, Inês; Garcia-Moreno, Hector; Manso, Katarina; Synofzik, Matthis; Traschütz, Andreas; van Gaalen, Judith; Perbolt, Tessa; Bushara, Khalash; Hutter, Diane; Manrique, Leire; Thieme, Andreas; Erdlenbruch, Friedrich; Onyike, Chiadi; Fishman, Ann; Reetz, Kathrin; Dogan, Imis; Ratai, Eva; Schmahmann, Jeremy; Santana, Magda; Figueroa, Karla P.; Perlman, Susan L.; Gomez, Christopher M.; Wilmot, George R.; Ying, Sarah H.; Zesiewicz, Theresa A.; Paulson, Henry L.; Shakkottai, Vikram G.; Geschwind, Michael D.; Xia, Guangbin; Pulst, Stefan M.; Subramnoy, Sub H.; Romanzetti, Sandro; Harmuth, Florian; Makowicz, Grzegorz; Roca, Alessandro; Casalo, Carlo; Masciullo, Marcella; Nachbauer, Wolfgang; Bürk-Gergs, Katrin; Riess, Olaf; Koyak, Berkan (2023): SCAview: an intuitive visual approach to the integrative analysis of clinical data in spinocerebellar ataxias. - In: The Cerebellum 23 (3). - S. 887-895. - DOI: https://doi.org/10.1007/s12311-023-01546-0	BibTeX \| RIS DOI URN
Faber, Jennifer; Berger, Moritz; Wilke, Carlo; Hübener‐Schmid, Jeannette; Schaprian, Tamara; Santana, Magda M.; Grobe‐Einsler, Marcus; Onder, Demet; Koyak, Berkan; Giunti, Paola; Garcia‐Moreno, Hector; Gonzalez‐Robles, Cristina; Lima, Manuela; Raposo, Mafalda; Melo, Ana Rosa Vieira; de Almeida, Luís Pereira; Silva, Patrick; Pinto, Maria M.; van de Warrenburg, Bart P.; van Gaalen, Judith; de Vries, Jeroen; Oz, Gulin; Joers, James M.; Synofzik, Matthis; Schols, Ludger; Riess, Olaf; Infante, Jon; Manrique, Leire; Timmann, Dagmar; Thieme, Andreas; Jacobi, Heike; Reetz, Kathrin; Dogan, Imis; Onyike, Chiadikaobi; Povazan, Michal; Schmahmann, Jeremy; Ratai, Eva‐Maria; Schmid, Matthias; Klockgether, Thomas (2023): Stage-dependent biomarker changes in spinocerebellar ataxia type 3. - In: Annals of Neurology 95 (2). - S. 400-406. - DOI: https://doi.org/10.1002/ana.26824	BibTeX \| RIS DOI URN
Santorelli, Filippo M.; McLoughlin, Hayley S.; Wolter, Justin M.; Galatolo, Daniele; Synofzik, Matthis; Mengel, David; Opal, Puneet; Antonijevic, Irina; Auburger, Georg; Bataller, Luis; Bertini, Enrico; Boesch, Sylvia; Boeshore, Samantha; Buijsen, Ronald; Chan, Edwin; Coarelli, Giulia; Dupré, Nicolas; Durr, Alexandra; Eigentler, Andreas; Elert-Dobkowska, Ewelina; Espinos, Carmen; Faruq, Mohammed; Fichera, Mario; Fogel, Brent; Garces, Pilar; Graessner, Holm; Heidari, Morteza; Houlden, Henry; Hübener-Schmid, Jeannette; Jardim, Laura; Onodera, Osamu; Pereira de Almeida, Luis; Primiano, Guido; Puccio, Hélène; Rosenthal, Liana; Saccà, Francesco; Saraiva-Pereira, Maria Luiza; Schmidt, Thorsten; Schöls, Ludger; Silvestri, Gabriella; Zach, Neta (2023): Standards of fluid biomarker collection and pre-analytical processes in humans and mice: recommendations by the ataxia global initiative working group on biomarkers. - In: The Cerebellum 23 (3). - S. 881-886. - DOI: https://doi.org/10.1007/s12311-023-01561-1	BibTeX \| RIS DOI
Bux, Jessica; Sen, Nesli Ece; Klink, Isa-Maria; Hauser, Stefan; Synofzik, Matthis; Schöls, Ludger; Auburger, Georg; Riess, Olaf; Hübener-Schmid, Jeannette (2023): TR-FRET-based immunoassay to measure Ataxin-2 as a target engagement marker in spinocerebellar ataxia type 2. - In: Molecular Neurobiology 60 (6). - S. 3553-3567. - DOI: https://doi.org/10.1007/s12035-023-03294-y	BibTeX \| RIS DOI URN
2022
Sowa, Anna S.; Haas, Eva; Hübener-Schmid, Jeannette; Lorentz, Axel (2022): Ataxin-3, the spinocerebellar ataxia type 3 neurodegenerative disorder protein, affects mast cell functions. - In: Frontiers in Immunology 13. - Artikelnummer: 870966. - 10 S. - DOI: https://doi.org/10.3389/fimmu.2022.870966	BibTeX \| RIS DOI URN
Maas, Roderick P.P.W.M.; Teerenstra, Steven; Lima, Manuela; Pires, Paula; Pereira de Almeida, Luís; van Gaalen, Judith; Timmann, Dagmar; Infante, Jon; Onyike, Chiadi; Bushara, Khalaf; Jacobi, Heike; Reetz, Kathrin; Santana, Magda M.; Afonso Ribeiro, Joana; Hübener‐Schmid, Jeannette; de Vries, Jeroen J.; Synofzik, Matthis; Schöls, Ludger; Garcia‐Moreno, Hector; Giunti, Paola; Faber, Jennifer; Klockgether, Thomas; van de Warrenburg, Bart P.C. (2022): Differential temporal dynamics of axial and appendicular ataxia in SCA3. - In: Movement Disorders 37 (9). - S. 1850-1860. - DOI: https://doi.org/10.1002/mds.29135	BibTeX \| RIS DOI URN
Cheng, Fubo; Zheng, Wenxu; Liu, Chang; Barbuti, Peter Antony; Yu-Taeger, Libo; Casadei, Nicolas; Hübener-Schmid, Jeannette; Admard, Jakob; Boldt, Karsten; Junger, Katrin; Ueffing, Marius; Houlden, Henry; Sharma, Manu; Kruger, Rejko; Grundmann-Hauser, Kathrin; Ott, Thomas; Riess, Olaf (2022): Intronic enhancers of the human SNCA gene predominantly regulate its expression in brain in vivo. - In: Science Advances 8 (47). - Artikelnummer: eabq6324. - 15 S. - DOI: https://doi.org/10.1126/sciadv.abq6324	BibTeX \| RIS DOI URN
Abeditashi, Mahkameh; Weber, Jonasz Jeremiasz; Pereira Sena, Priscila; Velic, Ana; Kalimeri, Maria; Incebacak Eltemur, Rana Dilara; Schmidt, Jana; Hübener-Schmid, Jeannette; Hauser, Stefan; Macek, Boris; Riess, Olaf; Schmidt, Thorsten (2022): KPNB1 modulates the Machado–Joseph disease protein ataxin-3 through activation of the mitochondrial protease CLPP. - In: Cellular and Molecular Life Sciences 79 (8). - Artikelnummer: 401. - 21 S. - DOI: https://doi.org/10.1007/s00018-022-04372-5	BibTeX \| RIS DOI URN
Harmuth, Tina; Weber, Jonasz J.; Zimmer, Anna J.; Sowa, Anna S.; Schmidt, Jana; Fitzgerald, Julia C.; Schöls, Ludger; Riess, Olaf; Hübener-Schmid, Jeannette (2022): Mitochondrial dysfunction in spinocerebellar ataxia type 3 is linked to VDAC1 deubiquitination. - In: International Journal of Molecular Sciences 23 (11). - Artikelnummer: 5933. - 20 S. - DOI: https://doi.org/10.3390/ijms23115933	BibTeX \| RIS DOI URN
Hübener‐Schmid, Jeannette; Kuhlbrodt, Kirsten; Peladan, Julien; Rieß, Olaf (2022): Reply to: “Comment on: polyglutamine-expanded Ataxin-3: a target engagement marker for spinocerebellar ataxia type 3 in peripheral blood”. - In: Movement Disorders 37 (5). - S. 1121-1122. - DOI: https://doi.org/10.1002/mds.29003	BibTeX \| RIS DOI URN
Hengel, Holger; Martus, Peter; Faber, Jennifer; Giunti, Paola; Garcia-Moreno, Hector; Solanky, Nita; Klockgether, Thomas; Reetz, Kathrin; van de Warrenburg, Bart P.; Santana, Magda M.; Silva, Patrick; Cunha, Inês; Pereira de Almeida, Luís; Timmann, Dagmar; Infante, Jon; de Vries, Jeroen; Lima, Manuela; Pires, Paula; Bushara, Khalaf; Jacobi, Heike; Onyike, Chiadi; Schmahmann, Jeremy D.; Hübener-Schmid, Jeannette; Synofzik, Matthis; Schöls, Ludger (2022): The frequency of non-motor symptoms in SCA3 and their association with disease severity and lifestyle factors. - In: Journal of Neurology 270 (2). - S. 944-952. - DOI: https://doi.org/10.1007/s00415-022-11441-z	BibTeX \| RIS DOI URN
2021
Sowa, Anna S.; Popova, Taissia G.; Harmuth, Tina; Weber, Jonasz J.; Pereira Sena, Priscila; Schmidt, Jana; Hübener-Schmid, Jeannette; Schmidt, Thorsten (2021): Neurodegenerative phosphoprotein signaling landscape in models of SCA3. - In: Molecular Brain 14 (1). - Artikelnummer: 57. - 10 S. - DOI: https://doi.org/10.1186/s13041-020-00723-0	BibTeX \| RIS DOI URN
Hübener‐Schmid, Jeannette; Kuhlbrodt, Kirsten; Peladan, Julien; Faber, Jennifer; Santana, Magda M.; Hengel, Holger; Jacobi, Heike; Reetz, Kathrin; Garcia‐Moreno, Hector; Raposo, Mafalda; van Gaalen, Judith; Infante, Jon; Steiner, Katharina M.; de Vries, Jeroen; Verbeek, Marcel M.; Giunti, Paola; Pereira de Almeida, Luis; Lima, Manuela; van de Warrenburg, Bart; Schöls, Ludger; Klockgether, Thomas; Synofzik, Matthis; Riess, Olaf (2021): Polyglutamine-expanded Ataxin-3: a target engagement marker for spinocerebellar ataxia type 3 in peripheral blood. - In: Movement Disorders 36 (11). - S. 2675-2681. - DOI: https://doi.org/10.1002/mds.28749	BibTeX \| RIS DOI URN
2020
Weber, Jonasz J; Haas, Eva; Maringer, Yacine; Hauser, Stefan; Casadei, Nicolas L. P.; Chishti, Athar H.; Riess, Olaf; Hübener-Schmid, Jeannette (2020): Calpain-1 ablation partially rescues disease-associated hallmarks in models of Machado-Joseph disease. - In: Human Molecular Genetics 29 (6). - S. 892-906. - DOI: https://doi.org/10.1093/hmg/ddaa010	BibTeX \| RIS DOI
Lang, Jana; Haas, Eva; Hübener-Schmid, Jeannette; Anderson, Collin J.; Pulst, Stefan M.; Giese, Martin A.; Ilg, Winfried (2020): Detecting and quantifying ataxia-related motor impairments in rodents using markerless motion tracking with deep neural networks. - In: 2020 42nd Annual International Conference of the IEEE Engineering in Medicine & Biology Society (EMBC). - Piscataway, New Jersey : Institute of Electrical and Electronics Engineers. - S. 3642-3648. - DOI: https://doi.org/10.1109/EMBC44109.2020.9176701	BibTeX \| RIS DOI
Hentrich, Thomas; Wassouf, Zinah; Ehrhardt, Christine; Haas, Eva; Mills, James D.; Aronica, Eleonora; Outeiro, Tiago Fleming; Hübener-Schmid, Jeannette; Riess, Olaf; Casadei, Nicolas; Schulze-Hentrich, Julia M. (2020): Increased expression of myelin-associated genes in frontal cortex of SNCA overexpressing rats and Parkinson’s disease patients. - In: Aging 12 (19). - S. 18889-18906. - DOI: https://doi.org/10.18632/aging.103935	BibTeX \| RIS DOI URN
Wilke, Carlo; Haas, Eva; Reetz, Kathrin; Faber, Jennifer; Garcia‐Moreno, Hector; Santana, Magda M; van de Warrenburg, Bart; Hengel, Holger; Lima, Manuela; Filla, Alessandro; Durr, Alexandra; Melegh, Bela; Masciullo, Marcella; Infante, Jon; Giunti, Paola; Neumann, Manuela; de Vries, Jeroen; Pereira de Almeida, Luis; Rakowicz, Maria; Jacobi, Heike; Schüle, Rebecca; Kaeser, Stephan A.; Kuhle, Jens; Klockgether, Thomas; Schöls, Ludger; Barro, Christian; Hübener‐Schmid, Jeannette; Synofzik, Matthis; Deuschle, Christian; Stransky, Elke; Brockmann, Kathrin; Schulz, Jörg B; Baliko, Laszlo; van Gaalen, Judith; Raposo, Mafalda; Jeromin, Andreas (2020): Neurofilaments in spinocerebellar ataxia type 3: blood biomarkers at the preataxic and ataxic stage in humans and mice. - In: EMBO Molecular Medicine 12 (7). - Artikelnummer: e11803. - 19 S. - DOI: https://doi.org/10.15252/emmm.201911803	BibTeX \| RIS DOI URN
Gonsior, Kathrin; Kaucher, Gabriele Anna; Pelz, Patrik; Schumann, Dorothea; Gansel, Melanie; Kuhs, Sandra; Klockgether, Thomas; Forlani, Sylvie; Durr, Alexandra; Hauser, Stefan; Rattay, Tim W.; Synofzik, Matthis; Hengel, Holger; Schöls, Ludger; Rieß, Olaf H.; Hübener-Schmid, Jeannette (2020): PolyQ-expanded ataxin-3 protein levels in peripheral blood mononuclear cells correlate with clinical parameters in SCA3: a pilot study. - In: Journal of Neurology 268 (4). - S. 1304-1315. - DOI: https://doi.org/10.1007/s00415-020-10274-y	BibTeX \| RIS DOI URN
2019
Martier, Raygene; Sogorb-Gonzalez, Marina; Stricker-Shaver, Janice; Hübener-Schmid, Jeannette; Keskin, Sonay; Klima, Jiri; Toonen, Lodewijk J.; Juhas, Stefan; Juhasova, Jana; Ellederova, Zdenka; Motlik, Jan; Haas, Eva; van Deventer, Sander; Konstantinova, Pavlina; Nguyen, Huu Phuc; Evers, Melvin M. (2019): Development of an AAV-based microRNA gene therapy to treat Machado-Joseph Disease. - In: Molecular Therapy. Methods & Clinical Development 15. - S. 343-358. - DOI: https://doi.org/10.1016/j.omtm.2019.10.008	BibTeX \| RIS DOI URN
Hauser, Stefan; Poenisch, Marion; Schelling, Yvonne; Höflinger, Philip; Schuster, Stefanie; Teegler, Axel; Betten, Rabea; Gustafsson, Jan-Åke; Hübener-Schmid, Jeannette; Schlake, Thomas; Chevessier-Tünnesen, Frédéric; Horscroft, Nigel; Björkhem, Ingemar; Schöls, Ludger (2019): mRNA as a novel treatment strategy for hereditary spastic paraplegia type 5. - In: Molecular Therapy. Methods & Clinical Development 15. - S. 359-370. - DOI: https://doi.org/10.1016/j.omtm.2019.10.011	BibTeX \| RIS DOI URN
2018
Hayer, Stefanie; Schelling, Yvonne; Huebener-Schmid, Jeannette; Weber, Jonasz; Hauser, Stefan; Schöls, Ludger (2018): Generation of an induced pluripotent stem cell line from a patient with spinocerebellar ataxia type 3 (SCA3): HIHCNi002-A. - In: Stem cell research 30. - S. 171-174. - DOI: https://doi.org/10.1016/j.scr.2018.06.006	BibTeX \| RIS DOI URN
Harmuth, Tina; Prell-Schicker, Caroline; Weber, Jonasz J.; Gellerich, Frank; Funke, Claudia; Drießen, Stefan; Magg, Janine C. D.; Krebiehl, Guido; Wolburg, Hartwig; Hayer, Stefanie N.; Hauser, Stefan; Krüger, Rejko; Schöls, Ludger; Riess, Olaf; Hübener-Schmid, Jeannette (2018): Mitochondrial morphology, function and homeostasis are impaired by expression of an N-terminal calpain cleavage fragment of Ataxin-3. - In: Frontiers in Molecular Neuroscience 11. - Artikelnummer: 368. - 18 S. - DOI: https://doi.org/10.3389/fnmol.2018.00368	BibTeX \| RIS DOI URN
2017
Weber, Jonasz J.; Golla, Matthias; Guaitoli, Giambattista; Wanichawan, Pimthanya; Hayer, Stefanie N.; Hauser, Stefan; Krahl, Ann-Christin; Nagel, Maike; Samer, Sebastian; Aronica, Eleonora; Carlson, Cathrine R.; Schöls, Ludger; Riess, Olaf; Gloeckner, Christian J.; Nguyen, Huu P.; Hübener-Schmid, Jeannette (2017): A combinatorial approach to identify calpain cleavage sites in the Machado-Joseph disease protein ataxin-3. - In: Brain 140 (5). - S. 1280-1299. - DOI: https://doi.org/10.1093/brain/awx039	BibTeX \| RIS DOI
2016
Schmidt, Jana; Schmidt, Thorsten; Golla, Matthias; Lehmann, Lisa; Weber, Jonasz Jeremiasz; Hübener‐Schmid, Jeannette; Riess, Olaf (2016): In vivo assessment of riluzole as a potential therapeutic drug for spinocerebellar ataxia type 3. - In: Journal of Neurochemistry 138 (1). - S. 150-162. - DOI: https://doi.org/10.1111/jnc.13606	BibTeX \| RIS DOI
2014
Weber, Jonasz Jeremiasz; Sowa, Anna Sergeevna; Binder, Tina; Hübener-Schmid, Jeannette (2014): From pathways to targets: understanding the mechanisms behind polyglutamine disease. - In: BioMed Research International 2014. - Artikelnummer: 701758. - 22 S. - DOI: https://doi.org/10.1155/2014/701758	BibTeX \| RIS DOI URN
2013
Hübener, Jeannette; Weber, Jonasz; Richter, Claudia; Honold, Lisa; Weiss, Andreas; Murad, Fabronia; Breuer, Peter; Wullner, Ullrich; Bellstedt, Peter; Paquet-Durand, Francois; Takano, Jiro; Saido, Takaomi; Riess, Olaf; Nguyen, Huu (2013): Calpain-mediated ataxin-3 cleavage in the molecular pathogenesis of spinocerebellar ataxia type 3 (SCA3). - In: Human molecular genetics 22 (3). - S. 508-518. - DOI: https://doi.org/10.1093/hmg/dds449	BibTeX \| RIS DOI
Nguyen, Huu; Hübener, Jeannette; Weber, Jonasz; Grueninger, Stephan; Riess, Olaf; Weiss, Andreas (2013): Cerebellar soluble mutant Ataxin-3 level decreases during disease progression in Spinocerebellar Ataxia type 3 mice. - In: PLoS ONE 8 (4). - Artikelnummer: e62043. - 9 S. - DOI: https://doi.org/10.1371/journal.pone.0062043	BibTeX \| RIS DOI URN
2012
Hübener-Schmid, Jeannette; Casadei, Nicolas; Teismann, Peter; Seeliger, Mathias W.; Björkqvist, Maria; von Hörsten, Stephan; Riess, Olaf; Nguyen, Huu Phuc (2012): Automated behavioral phenotyping reveals presymptomatic alterations in a SCA3 genetrap mouse model. - In: Journal of Genetics and Genomics 39 (6). - S. 287-299. - DOI: https://doi.org/10.1016/j.jgg.2012.04.009	BibTeX \| RIS DOI
2011
Hübener-Schmid, Jeannette; Vauti, Franz; Funke, Claudia; Wolburg, Hartwig; Ye, Yihong; Schmidt, Thorsten; Wolburg-Buchholz, Karen; Schmitt, Ina; Gardyan, Adriane; Drießen, Stefan; Arnold, Hans-Henning; Nguyen, Huu Phuc; Riess, Olaf (2011): N-terminal ataxin-3 causes neurological symptoms with inclusions, endoplasmic reticulum stress and ribosomal dislocation. - In: Brain 134 (7). - S. 1925-1942. - DOI: https://doi.org/10.1093/brain/awr118	BibTeX \| RIS DOI
2010
Hübener-Schmid, Jeannette; Riess, Olaf (2010): Polyglutamine-induced neurodegeneration in SCA3 is not mitigated by non-expanded ataxin-3: Conclusions from double-transgenic mouse models. - In: Neurobiology of Disease 38 (1). - S. 116-124. - DOI: https://doi.org/10.1016/j.nbd.2010.01.005	BibTeX \| RIS DOI
2009
Menzies, Fiona M.; Hübener-Schmid, Jeannette; Renna, Maurizio; Bonin, Michael; Riess, Olaf; Rubinsztein, David C. (2009): Autophagy induction reduces mutant ataxin-3 levels and toxicity in a mouse model of spinocerebellar ataxia type 3. - In: Brain 133 (1). - S. 93-104. - DOI: https://doi.org/10.1093/brain/awp292	BibTeX \| RIS DOI URN
2008
Stuhrmann, M.; Hennies, H. C.; Bukhari, I. A.; Brakensiek, K.; Nürnberg, G.; Becker, C.; Hübener-Schmid, Jeannette; Miranda, M. C.; Frye‐Boukhriss, H.; Knothe, S.; Schmidtke, J.; El‐Harith, E.‐H. A. (2008): Dyschromatosis universalis hereditaria: evidence for autosomal recessive inheritance and identification of a new locus on chromosome 12q21-q23. - In: Clinical Genetics 73 (6). - S. 566-572. - DOI: https://doi.org/10.1111/j.1399-0004.2008.01000.x	BibTeX \| RIS DOI
El‐Harith, El‐Harith Abdelghaffar; Roesl, Cornelia; Ballmaier, Matthias; Germeshausen, Manuela; Frye‐Boukhriss, Hildegard; Von Neuhoff, Nils; Becker, Christian; Nürnberg, Gudrun; Nürnberg, Peter; Ahmed, Mirghani Ali Mohamed; Hübener-Schmid, Jeannette; Schmidtke, Jörg; Welte, Karl; Stuhrmann, Manfred (2008): Familial thrombocytosis caused by the novel germ-line mutation p.Pro106Leu in the MPL gene. - In: British Journal of Haematology 144 (2). - S. 185-194. - DOI: https://doi.org/10.1111/j.1365-2141.2008.07430.x	BibTeX \| RIS DOI
Grundmann, Kathrin; Hübener-Schmid, Jeannette; Häbig, Karina; Reischmann, Bettina; Poths, Sven; Hauser, Till‐Karsten; Magg, Janine; Riess, Olaf; Bonin, Michael; Nguyen, Huu Phuc (2008): Gene expression changes in a transgenic mouse model overexpressing human wildtype and mutant torsinA. - In: Proteomics. Clinical applications 2 (5). - S. 720-736. - DOI: https://doi.org/10.1002/prca.200780053	BibTeX \| RIS DOI
2007
Bichelmeier, Ulrike; Schmidt, Thorsten; Hübener-Schmid, Jeannette; Boy, Jana; Rüttiger, Lukas; Häbig, Karina; Poths, Sven; Bonin, Michael; Knipper, Marlies; Schmidt, Werner J.; Wilbertz, Johannes; Wolburg, Hartwig; Laccone, Franco; Riess, Olaf (2007): Nuclear localization of Ataxin-3 is required for the manifestation of symptoms in SCA3: in vivo evidence. - In: The Journal of Neuroscience 27 (28). - S. 7418-7428. - DOI: https://doi.org/10.1523/JNEUROSCI.4540-06.2007	BibTeX \| RIS DOI
Grundmann, K.; Reischmann, B.; Vanhoutte, G.; Hübener-Schmid, Jeannette; Teismann, P.; Hauser, T.-K.; Bonin, M.; Wilbertz, J.; Horn, S.; Nguyen, H.P.; Kuhn, M.; Chanarat, S.; Wolburg, H.; Van der Linden, A.; Riess, O. (2007): Overexpression of human wildtype torsinA and human ΔGAG torsinA in a transgenic mouse model causes phenotypic abnormalities. - In: Neurobiology of Disease 27 (2). - S. 190-206. - DOI: https://doi.org/10.1016/j.nbd.2007.04.015	BibTeX \| RIS DOI

Zurück zur Liste