All Stories

  1. Bi-allelic KICS2 mutations impair KICSTOR complex-mediated mTORC1 regulation, causing intellectual disability and epilepsy

    Article • The American Journal of Human Genetics, February 2025, Elsevier

    Dr. Jonasz Jeremiasz Weber

  2. The parkin V380L variant is a genetic modifier of Machado–Joseph disease with impact on mitophagy

    Article • Acta Neuropathologica, August 2024, Springer Science + Business Media

    Dr. Jonasz Jeremiasz Weber

  3. p62, the Receptor for Selective Autophagy, Contributes in ATXN3 Aggregate Formation in Spinocerebellar Ataxia Type 3

    Article • March 2024, MDPI AG

    Dr. Jonasz Jeremiasz Weber

  4. Editorial: The role of posttranslational modifications in polyglutamine diseases

    Article • Frontiers in Molecular Neuroscience, August 2023, Frontiers

    Dr. Jonasz Jeremiasz Weber

  5. Implications of specific lysine residues within ataxin-3 for the molecular pathogenesis of Machado-Joseph disease

    Article • Frontiers in Molecular Neuroscience, May 2023, Frontiers

    Dr. Jonasz Jeremiasz Weber

  6. Evidences for Mutant Huntingtin Inducing Musculoskeletal and Brain Growth Impairments via Disturbing Testosterone Biosynthesis in Male Huntington Disease Animals

    Article • Cells, November 2022, MDPI AG

    Dr. Jonasz Jeremiasz Weber

  7. Calpain-mediated proteolysis as driver and modulator of polyglutamine toxicity

    Article • Frontiers in Molecular Neuroscience, October 2022, Frontiers

    Dr. Jonasz Jeremiasz Weber

  8. KPNB1 modulates the Machado–Joseph disease protein ataxin-3 through activation of the mitochondrial protease CLPP

    Article • Cellular and Molecular Life Sciences, July 2022, Springer Science + Business Media

    Dr. Jonasz Jeremiasz Weber

  9. Mitochondrial Dysfunction in Spinocerebellar Ataxia Type 3 Is Linked to VDAC1 Deubiquitination

    Article • International Journal of Molecular Sciences, May 2022, MDPI AG

    Dr. Jonasz Jeremiasz Weber

  10. Calpains as novel players in the molecular pathogenesis of spinocerebellar ataxia type 17

    Article • Cellular and Molecular Life Sciences, April 2022, Springer Science + Business Media

    Dr. Jonasz Jeremiasz Weber

  11. Pathophysiological interplay between O -GlcNAc transferase and the Machado–Joseph disease protein ataxin-3

    Article • Proceedings of the National Academy of Sciences, November 2021, Proceedings of the National Academy of Sciences

    Thorsten Schmidt, Dr. Jonasz Jeremiasz Weber

  12. Neurodegenerative phosphoprotein signaling landscape in models of SCA3

    Article • Molecular Brain, March 2021, Springer Science + Business Media

    Dr. Jonasz Jeremiasz Weber

  13. The Novel Alpha-2 Adrenoceptor Inhibitor Beditin Reduces Cytotoxicity and Huntingtin Aggregates in Cell Models of Huntington’s Disease

    Article • Pharmaceuticals, March 2021, MDPI AG

    Dr. Jonasz Jeremiasz Weber

  14. Calpain-1 ablation partially rescues disease-associated hallmarks in models of Machado-Joseph disease

    Article • Human Molecular Genetics, January 2020, Oxford University Press (OUP)

    Dr. Jonasz Jeremiasz Weber

  15. Olesoxime in neurodegenerative diseases: Scrutinising a promising drug candidate

    Article • Biochemical Pharmacology, October 2019, Elsevier

    Dr. Jonasz Jeremiasz Weber

  16. Killing Two Angry Birds with One Stone: Autophagy Activation by Inhibiting Calpains in Neurodegenerative Diseases and Beyond

    Article • BioMed Research International, February 2019, Hindawi Publishing Corporation

    Dr. Jonasz Jeremiasz Weber, Priscila Pereira Sena

  17. Vulnerability of frontal brain neurons for the toxicity of expanded ataxin-3

    Article • Human Molecular Genetics, December 2018, Oxford University Press (OUP)

    Dr. Jonasz Jeremiasz Weber

  18. Mitochondrial Morphology, Function and Homeostasis Are Impaired by Expression of an N-terminal Calpain Cleavage Fragment of Ataxin-3

    Article • Frontiers in Molecular Neuroscience, October 2018, Frontiers

    Dr. Jonasz Jeremiasz Weber

  19. B04 Environment-dependent modulation of striatal gene expression in the BACHD RAT model

    Article • September 2018, BMJ

    Dr. Jonasz Jeremiasz Weber

  20. Generation of an induced pluripotent stem cell line from a patient with spinocerebellar ataxia type 3 (SCA3): HIHCNi002-A

    Article • Stem Cell Research, July 2018, Elsevier

    Dr. Jonasz Jeremiasz Weber

  21. Calpastatin ablation aggravates the molecular phenotype in cell and animal models of Huntington disease

    Article • Neuropharmacology, May 2018, Elsevier

    Dr. Jonasz Jeremiasz Weber

  22. Environment-dependent striatal gene expression in the BACHD rat model for Huntington disease

    Article • Scientific Reports, April 2018, Springer Science + Business Media

    Professor Nicole Déglon, Dr. Jonasz Jeremiasz Weber

  23. Karyopherin α-3 is a key protein in the pathogenesis of spinocerebellar ataxia type 3 controlling the nuclear localization of ataxin-3

    Article • Proceedings of the National Academy of Sciences, February 2018, Proceedings of the National Academy of Sciences

    Dr. Jonasz Jeremiasz Weber

  24. Reduced cell size, chromosomal aberration and altered proliferation rates are characteristics and confounding factors in the STHdh cell model of Huntington disease

    Article • Scientific Reports, December 2017, Springer Science + Business Media

    Dr. Jonasz Jeremiasz Weber

  25. A combinatorial approach to identify calpain cleavage sites in the Machado-Joseph disease protein ataxin-3

    Article • Brain, March 2017, Oxford University Press (OUP)

    Dr. Jonasz Jeremiasz Weber

  26. B46 The HD-like type 4/SCA17 disease protein TBP is cleaved by calpains in vitro and in vivo

    Article • Journal of Neurology Neurosurgery & Psychiatry, September 2016, BMJ

    Dr. Jonasz Jeremiasz Weber

  27. C3 Reduced cell size and enhanced cell proliferation are characteristics of sthdhq111/111 cells and should be considered as possible confounding factors

    Article • Journal of Neurology Neurosurgery & Psychiatry, September 2016, BMJ

    Dr. Jonasz Jeremiasz Weber

  28. L20 Olesoxime targets calpain overactivation in models of huntington’s disease

    Article • Journal of Neurology Neurosurgery & Psychiatry, September 2016, BMJ

    Dr. Jonasz Jeremiasz Weber

  29. In vivoassessment of riluzole as a potential therapeutic drug for spinocerebellar ataxia type 3

    Article • Journal of Neurochemistry, June 2016, Wiley

    Dr. Jonasz Jeremiasz Weber

  30. The calpain-suppressing effects of olesoxime in Huntington's disease

    Article • Rare Diseases, January 2016, Taylor & Francis

    Dr. Jonasz Jeremiasz Weber

  31. Olesoxime suppresses calpain activation and mutant huntingtin fragmentation in the BACHD rat

    Article • Brain, October 2015, Oxford University Press (OUP)

    Dr. Jonasz Jeremiasz Weber

  32. B05 New Light On The Role Of Calpain-mediated Proteolysis Of Mutant Huntingtin

    Article • Journal of Neurology Neurosurgery & Psychiatry, September 2014, BMJ

    Dr. Jonasz Jeremiasz Weber

  33. B21 Characterisation Of Mice Overexpressing Mutant Huntingtin Lacking The Spine Morphogenesis Regulator Kalirin-7

    Article • Journal of Neurology Neurosurgery & Psychiatry, September 2014, BMJ

    Dr. Jonasz Jeremiasz Weber

  34. M06 Olesoxime Treatment Inhibits The Formation Of Mhtt Fragments Through Suppression Of Calpain Activity, And Leads To Behavioural And Neurological Improvements In The Bachd Rat

    Article • Journal of Neurology Neurosurgery & Psychiatry, September 2014, BMJ

    Dr. Jonasz Jeremiasz Weber

  35. From Pathways to Targets: Understanding the Mechanisms behind Polyglutamine Disease

    Article • BioMed Research International, January 2014, Hindawi Publishing Corporation

    Dr. Jonasz Jeremiasz Weber

  36. Cerebellar Soluble Mutant Ataxin-3 Level Decreases during Disease Progression in Spinocerebellar Ataxia Type 3 Mice

    Article • PLOS One, April 2013, PLOS

    Dr. Jonasz Jeremiasz Weber

  37. Calpain-mediated ataxin-3 cleavage in the molecular pathogenesis of spinocerebellar ataxia type 3 (SCA3)

    Article • Human Molecular Genetics, October 2012, Oxford University Press (OUP)

    Dr. Jonasz Jeremiasz Weber