Institute of Cell Biology


Prof. Smita Saxena

Identification and functional analysis of disease-related mechanisms involved in spinocerebellar ataxia1 and motoneuron disease

The main focus of our research is to identify cellular mechanisms causally involved with onset and spreading of neurodegenerative diseases (ND). We use imaging and biochemical techniques combined with systems biology to identify and investigate disease-related aberrant cellular mechanisms.

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De Lorenzo, Francesca; Lüningschrör, Patrick; Nam, Jinhan; Beckett, Liam; Pilotto, Federica; Galli, Emilia; Lindholm, Päivi; Rüdt von Collenberg, Cora; Tii Mungwa, Simon; Jablonka, Sibylle; Kauder, Julia; Thau-Habermann, Nadine; Petri, Susanne; Lindholm, Dan; Saxena, Smita; Sendtner, Michael; Saarma, Mart; Voutilainen, Merja H (2023). CDNF rescues motor neurons in models of amyotrophic lateral sclerosis by targeting endoplasmic reticulum stress. Brain : a journal of neurology, 146(9), pp. 3783-3799. Oxford University Press 10.1093/brain/awad087

Pilotto, Federica; Douthwaite, Christopher; Diab, Rim; Ye, XiaoQian; Al Qassab, Zahraa; Tietje, Christoph; Mounassir, Meriem; Odriozola, Adolfo; Thapa, Aishwarya; Buijsen, Ronald A M; Lagache, Sophie; Uldry, Anne-Christine; Heller, Manfred; Müller, Stefan; van Roon-Mom, Willeke M C; Zuber, Benoît; Liebscher, Sabine; Saxena, Smita (2023). Early molecular layer interneuron hyperactivity triggers Purkinje neuron degeneration in SCA1. Neuron, 111(16), 2523-2543.e10. Elsevier 10.1016/j.neuron.2023.05.016

Diab, Rim; Pilotto, Federica; Saxena, Smita (2023). Autophagy and neurodegeneration: Unraveling the role of C9ORF72 in the regulation of autophagy and its relationship to ALS-FTD pathology. Frontiers in cellular neuroscience, 17(1086895), p. 1086895. Frontiers Research Foundation 10.3389/fncel.2023.1086895


Gomez Limia, Cintia; Baird, Megan; Schwartz, Maura; Saxena, Smita; Meyer, Kathrin; Wein, Nicolas (2022). Emerging Perspectives on Gene Therapy Delivery for Neurodegenerative and Neuromuscular Disorders. Journal of personalized medicine, 12(12) MDPI 10.3390/jpm12121979

Pilotto, Federica; Schmitz, Alexander; Maharjan, Niran; Diab, Rim; Odriozola, Adolfo; Tripathi, Priyanka; Yamoah, Alfred; Scheidegger, Olivier; Oestmann, Angelina; Dennys, Cassandra N; Sinha Ray, Shrestha; Rodrigo, Rochelle; Kolb, Stephen; Aronica, Eleonora; Di Santo, Stefano; Widmer, Hans Rudolf; Charlet-Berguerand, Nicolas; Selvaraj, Bhuvaneish T; Chandran, Siddharthan; Meyer, Kathrin; ... (2022). PolyGA targets the ER stress-adaptive response by impairing GRP75 function at the MAM in C9ORF72-ALS/FTD. Acta neuropathologica, 144(5), pp. 939-966. Springer-Verlag 10.1007/s00401-022-02494-5


Schmitz, Alexander; Pinheiro Marques, João; Oertig, Irina; Maharjan, Niran; Saxena, Smita (2021). Emerging Perspectives on Dipeptide Repeat Proteins in C9ORF72 ALS/FTD. Frontiers in cellular neuroscience, 15, p. 637548. Frontiers Research Foundation 10.3389/fncel.2021.637548


Nguyen, Lien; Laboissonniere, Lauren A; Guo, Shu; Pilotto, Federica; Scheidegger, Olivier; Oestmann, Angelina; Hammond, Jennetta W; Li, Herman; Hyysalo, Anu; Peltola, Roosa; Pattamatta, Amrutha; Zu, Tao; Voutilainen, Merja H; Gelbard, Harris A; Saxena, Smita; Ranum, Laura P W (2020). Survival and Motor Phenotypes in FVB C9-500 ALS/FTD BAC Transgenic Mice Reproduced by Multiple Labs. Neuron, 108(4), 784-796.e3. Cell Press 10.1016/j.neuron.2020.09.009

Facchin, Laura; Schöne, Cornelia; Mensen, Armand; Bandarabadi, Mojtaba; Pilotto, Federica; Saxena, Smita; Libourel, Paul Antoine; Bassetti, Claudio L. A.; Adamantidis, Antoine R. (2020). Slow waves promote sleep-dependent plasticity and functional recovery after stroke. Journal of neuroscience, 40(45), pp. 8637-8651. Society for Neuroscience 10.1523/JNEUROSCI.0373-20.2020

Maharjan, Niran; Saxena, Smita (2020). It Takes Two to Tango: DPRs in ALS and SCA36. Neuron, 107(2), pp. 202-204. Cell Press 10.1016/j.neuron.2020.06.025

Binda, Francesca; Pernaci, Carla; Saxena, Smita (2020). Cerebellar Development and Circuit Maturation: A Common Framework for Spinocerebellar Ataxias. Frontiers in neuroscience, 14(293), p. 293. Frontiers Research Foundation 10.3389/fnins.2020.00293

Saxena, Smita; Liebscher, Sabine (2020). Editorial: Circuit Mechanisms of Neurodegenerative Diseases. Frontiers in neuroscience, 14, p. 593329. Frontiers Research Foundation 10.3389/fnins.2020.593329


Reichenstein, Irit; Eitan, Chen; Diaz-Garcia, Sandra; Haim, Guy; Magen, Iddo; Siany, Aviad; Hoye, Mariah L; Rivkin, Natali; Olender, Tsviya; Toth, Beata; Ravid, Revital; Mandelbaum, Amitai D; Yanowski, Eran; Liang, Jing; Rymer, Jeffrey K; Levy, Rivka; Beck, Gilad; Ainbinder, Elena; Farhan, Sali M K; Lennox, Kimberly A; ... (2019). Human genetics and neuropathology suggest a link between miR-218 and amyotrophic lateral sclerosis pathophysiology. Science translational medicine, 11(523) American Association for the Advancement of Science 10.1126/scitranslmed.aav5264


Pilotto, Federica; Saxena, Smita (2018). Epidemiology of inherited cerebellar ataxias and challenges in clinical research. Clinical and translational neuroscience, 2(2), 2514183X1878525. Sage Publications 10.1177/2514183x18785258


Hetz, Claudio; Saxena Seidel, Smita (2017). ER stress and the unfolded protein response in neurodegeneration. Nature reviews. Neurology, 13(8), pp. 477-491. Nature Publishing Group 10.1038/nrneurol.2017.99

Maharjan, Niran; Künzli, Christina; Buthey, Kilian; Saxena, Smita (2017). C9ORF72 Regulates Stress Granule Formation and Its Deficiency Impairs Stress Granule Assembly, Hypersensitizing Cells to Stress. Molecular neurobiology, 54(4), pp. 3062-3077. Springer 10.1007/s12035-016-9850-1

Odriozola, Adolfo; Llodrá, Jaime; Radecke, Julika; Ruegsegger, Céline; Tschanz, Stefan; Saxena, Smita; Rohr, Stephan; Zuber, Benoît (2017). High contrast staining for serial block face scanning electron microscopy without uranyl acetate (bioRxiv). Cold Spring Harbor Laboratory 10.1101/207472


Stucki, David; Ruegsegger, Céline; Steiner, Silvio; Radecke, Julika; Murphy, MP; Zuber, Benoît; Saxena, Smita (2016). Mitochondrial impairments contribute to Spinocerebellar ataxia type 1 progression and can be ameliorated by the mitochondria-targeted antioxidant MitoQ. Free radical biology & medicine, 97, pp. 427-440. Elsevier 0.1016/j.freeradbiomed.2016.07.005

Ruegsegger, Céline; Saxena, Smita (2016). Proteostasis impairment in ALS. Brain research, 1648(Pt B), pp. 571-579. Elsevier 10.1016/j.brainres.2016.03.032

Maharjan, Niran; Saxena, Smita (2016). ER strikes again: Proteostasis Dysfunction In ALS. EMBO journal, 35(8), pp. 798-800. Nature Publishing Group 10.15252/embj.201694117

Ruegsegger, Céline; Maharjan, Niran; Goswami, Anand; Filézac de l’Etang, Audrey; Weis, Joachim; Troost, Dirk; Heller, Manfred; Gut, Heinz; Saxena, Smita (2016). Aberrant association of misfolded SOD1 with Na+/K+ATPase-α3 impairs its activity and contributes to motor neuron vulnerability in ALS. Acta neuropathologica, 131(3), pp. 427-451. Springer 10.1007/s00401-015-1510-4

Kudira, Ramesh; Malinka, Thomas; Kohler, Andreas; Dosch, Michel; Gomez de Agüero Tamargo, Maria de la Mercedes; Melin, Nicolas; Haegele, S; Starlinger, P; Maharjan, Niran; Saxena, Smita; Keogh, Adrian; Keogh-Stroka, Deborah M.; Candinas, Daniel; Beldi, Guido (2016). P2X1 regulated IL-22 secretion by innate lymphoid cells is required for efficient liver regeneration. Hepatology, 63(6), pp. 2004-2017. Wiley Interscience 10.1002/hep.28492

Ruegsegger, Céline; Stucki, David; Steiner, Silvio; Angliker, Nico; Radecke, Julika; Keller, Eva; Zuber, Benoît; Rüegg, Markus A; Saxena, Smita (2016). Impaired mTORC1-Dependent Expression of Homer-3 Influences SCA1 Pathophysiology. Neuron, 89(1), pp. 129-146. Cell Press 10.1016/j.neuron.2015.11.033

Neve, Anuja Vilas; Trüb, Judith; Saxena, Smita; Schümperli, Daniel (2016). Central and peripheral defects in motor units of the diaphragm of spinal muscular atrophy mice. Molecular and cellular neuroscience, 70, pp. 30-41. Elsevier 10.1016/j.mcn.2015.11.007

Kudira, Ramesh; Malinka, Thomas; Kohler, Andreas; Dosch, Michel; Gomez de Agüero Tamargo, Maria de la Mercedes; Melin, Nicolas; Haegele, S; Starlinger, P; Maharjan, Niran; Saxena, Smita; Keogh, Adrian; Keogh-Stroka, Deborah M.; Candinas, Daniel; Beldi, Guido (2016). P2X1 regulated IL-22 secretion by innate lymphoid cells is required for efficient liver regeneration (Unpublished). In: Keystone Symposium. Vancouver. 29.01.2016.


Filézac de L'Etang, Audrey; Maharjan, Niran; Cordeiro Braña, Marisa; Ruegsegger, Céline; Rehmann, Ruth; Goswami, Anand; Roos, Andreas; Troost, Dirk; Schneider, Bernard L; Weis, Joachim; Saxena, Smita (2015). Marinesco-Sjögren syndrome protein SIL1 regulates motor neuron subtype-selective ER stress in ALS. Nature neuroscience, 18(2), pp. 227-238. Nature America 10.1038/nn.3903


Huo, Qing; Kayikci, Melis; Odermatt, Philipp; Meyer, Kathrin; Michels, Olivia; Saxena, Smita; Ule, Jernej; Schümperli, Daniel (2014). Splicing changes in SMA mouse motoneurons and SMN-depleted neuroblastoma cells: evidence for involvement of splicing regulatory proteins. RNA biology, 11(11), pp. 1430-1446. Landes Bioscience 10.1080/15476286.2014.996494


Saxena, Smita; Roselli, Francesco; Singh, Katyayani; Leptien, Kerstin; Julien, Jean-Pierre; Gros-Louis, Francois; Caroni, Pico (2013). Neuroprotection through excitability and mTOR required in ALS motoneurons to delay disease and extend survival. Neuron, 80(1), pp. 80-96. Cell Press 10.1016/j.neuron.2013.07.027


Saxena, Smita; Caroni, Pico (2011). Selective neuronal vulnerability in neurodegenerative diseases: from stressor thresholds to degeneration. Neuron, 71(1), pp. 35-48. Cambridge, Mass.: Cell Press 10.1016/j.neuron.2011.06.031