Calculated based on number of publications stored in Pure and citations from Scopus
Calculated based on number of publications stored in Pure and citations from Scopus
Calculated based on number of publications stored in Pure and citations from Scopus
1988 …2024

Research activity per year

Personal profile

Research Interests

The overarching goal of our scientific work has been to define key molecular pathways in the pathogenesis of neurodegeneration and to uncover novel targets for therapeutic development. We have focused on pathogenic mechanisms that are commonly altered in neurodegenerative disorders such as deficient degradation of aggregation-prone proteins and mitochondrial dysfunction. As a general strategy, we study rare genetic diseases with mutations in genes that play a role in these key mechanisms and pathways. Models of Huntington’s, Parkinson’s and Gaucher’s disease have been utilized to examine if activation of cellular degradation pathways can lead to neuroprotection. To validate and study these findings in human neurons, we utilize induced pluripotent stem cells (iPS) generated by reprogramming of patient-specific skin fibroblasts. These iPS cells are differentiated into specific neuronal subtypes in order to characterize the interplay of genetic, epigenetic and environmental factors in disease pathogenesis. The ultimate goal of these studies is to develop targeted therapies for Parkinson’s and related neurodegenerative disorders.

Certifications and Licenses

Neurology

Training Experience

2000Residency, Massachusetts General Hospital and Brigham and Women’s Hospital, Harvard Medical School
2002Fellowship, Massachusetts General Hospital, Harvard Medical School

Expertise related to UN Sustainable Development Goals

In 2015, UN member states agreed to 17 global Sustainable Development Goals (SDGs) to end poverty, protect the planet and ensure prosperity for all. This person’s work contributes towards the following SDG(s):

  • SDG 3 - Good Health and Well-being

Education/Academic qualification

MD, Medicine, University of Zagreb

… → 1992

Research interests keywords

  • Aging
  • Alzheimer's Disease
  • Gene Regulation
  • Movement Disorders
  • Neurogenetics
  • Neurology
  • Neuroscience
  • Parkinson’s Disease

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Collaborations and top research areas from the last five years

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  • Lipids bound lysosomal integral membrane protein 2

    Conrad, K. S. (Contributor), Cheng, T. (Contributor), Ysselstein, D. (Contributor), Heybrock, S. (Contributor), Hoth, L. R. (Contributor), Chrunyk, B. A. (Contributor), Am Ende, C. W. (Contributor), Krainc, D. (Contributor), Schwake, M. (Contributor), Saftig, P. (Contributor), Liu, S. (Contributor), Qiu, X. (Contributor) & Ehlers, M. D. (Contributor), Protein Data Bank (PDB), Dec 13 2017

    Dataset

  • Polygenic risk scores validated in patient-derived cells stratify for mitochondrial subtypes of Parkinson's disease

    Arena, G. (Contributor), Landoulsi, Z. (Contributor), Grossmann, D. (Contributor), Vitali, A. (Contributor), Delcambre, S. (Contributor), Baron, A. (Contributor), Antony, P. (Contributor), Boussaad, I. (Contributor), Bobbili, D. R. (Contributor), Kumar Sreelatha, A. A. (Contributor), Pavelka, L. (Contributor), Klein, C. (Contributor), Seibler, P. (Contributor), Glaab, E. (Contributor), Sharma, M. (Contributor), Krüger, R. (Contributor), May, P. (Contributor), Grünewald, A. (Contributor), Hundt, A. (Contributor), Bisdorff, A. (Contributor), Sharify, A. (Contributor), Hanff, A. (Contributor), Rauschenberger, A. (Contributor), Nicolai, B. (Contributor), Mollenhauer, B. (Contributor), Bellora, C. (Contributor), Moreno, C. (Contributor), Mediouni, C. (Contributor), Trefois, C. (Contributor), Pauly, C. (Contributor), Mackay, C. (Contributor), Gomes, C. (Contributor), Berg, D. (Contributor), Esteves, D. (Contributor), McIntyre, D. (Contributor), Reddy Bobbili, D. (Contributor), Rosales, E. (Contributor), Soboleva, E. (Contributor), Gómez De Lope, E. (Contributor), Thiry, E. (Contributor), Henry, E. (Contributor), Sandt, E. (Contributor), Wollscheid-Lengeling, E. (Contributor), Meisch, F. (Contributor), Mühlschlegel, F. (Contributor), Hammot, G. (Contributor), Acharya, G. (Contributor), Zelimkhanov, G. (Contributor), Contesotto, G. (Contributor), Aguayo, G. (Contributor), Marques, G. (Contributor), Berchem, G. (Contributor), Fagherazzi, G. (Contributor), Thien, H. (Contributor), Liepelt, I. (Contributor), Rosety, I. (Contributor), Jaroslaw Lebioda, J. (Contributor), Schweitzer, J. (Contributor), Nicolay, J. (Contributor), Ferrand, J. (Contributor), Schwamborn, J. (Contributor), Graas, J. (Contributor), Calmes, J. (Contributor), Klucken, J. (Contributor), Trouet, J. (Contributor), Sokolowska, K. (Contributor), Brockmann, K. (Contributor), Marcus, K. (Contributor), Beaumont, K. (Contributor), Rump, K. (Contributor), Longhino, L. (Contributor), Pauly, L. (Contributor), Vilas Boas, L. (Contributor), Hansen, L. (Contributor), Castillo, L. (Contributor), Perquin, M. (Contributor), Vyas, M. (Contributor), Gantenbein, M. (Contributor), Ostaszewski, M. (Contributor), Schmitt, M. (Contributor), Graziano, M. (Contributor), Giraitis, M. (Contributor), Minelli, M. (Contributor), Hansen, M. (Contributor), Valenti, M. (Contributor), Heneka, M. (Contributor), Heymann, M. (Contributor), Mittelbronn, M. (Contributor), Vaillant, M. (Contributor), Bassis, M. (Contributor), Hu, M. (Contributor), Ali, M. (Contributor), Alexandre, M. (Contributor), Menster, M. (Contributor), Jacoby, N. (Contributor), Diederich, N. (Contributor), Tsurkalenko, O. (Contributor), Terwindt, O. (Contributor), Martins Conde, P. (Contributor), Wilmes, P. (Contributor), Lupu, P. C. (Contributor), Lambert, P. (Contributor), Gawron, P. (Contributor), Klopfenstein, Q. (Contributor), Rawal, R. (Contributor), Ting Jiin Loo, R. (Contributor), Becker, R. (Contributor), Schneider, R. (Contributor), Dondelinger, R. (Contributor), Wade-Martins, R. (Contributor), Liszka, R. (Contributor), Nati, R. (Contributor), Ramos Lima, R. (Contributor), Lentz, R. (Contributor), Balling, R. (Contributor), Schmitz, S. (Contributor), Nickels, S. (Contributor), Herzinger, S. (Contributor), Pachchek, S. (Contributor), Ghosh, S. (Contributor), Sapienza, S. (Contributor), Herbrink, S. (Contributor), Marques, T. (Contributor), Gasser, T. (Contributor), Nehrbass, U. (Contributor), Groues, V. (Contributor), Satagopam, V. (Contributor), Lorentz, V. (Contributor), Maetzler, W. (Contributor), Gu, W. (Contributor), Ammerlann, W. (Contributor), Jaroz, Y. (Contributor), Koks, S. (Contributor), Mellick, G. D. (Contributor), Pirker, W. (Contributor), Zimprich, A. (Contributor), Lang, A. E. (Contributor), Rogaeva, E. (Contributor), Taba, P. (Contributor), Brice, A. (Contributor), Chartier-Harlin, M. (Contributor), Corvol, J. (Contributor), Domenighetti, C. (Contributor), Elbaz, A. (Contributor), Lesage, S. (Contributor), Mutez, E. (Contributor), Sugier, P. (Contributor), Grover, S. (Contributor), Brockmann, K. (Contributor), Deutschlander, A. B. (Contributor), Gasser, T. (Contributor), Kruger, J. (Contributor), Lichtner, P. (Contributor), Radivojkov-Blagojevic, M. (Contributor), Schulte, C. (Contributor), Sharma, M. (Contributor), Dardiotis, E. (Contributor), Hadjigeorgiou, G. M. (Contributor), Simitsi, A. M. (Contributor), Stefanis, L. (Contributor), Annesi, G. (Contributor), Brighina, L. (Contributor), Ferrarese, C. (Contributor), Petrucci, S. (Contributor), Pezzoli, G. (Contributor), Quattrone, A. (Contributor), Straniero, L. (Contributor), Gagliardi, M. (Contributor), Valente, E. M. (Contributor), Zecchinelli, A. (Contributor), Hattori, N. (Contributor), Nakayama, A. (Contributor), Matsuo, H. (Contributor), Nishioka, K. (Contributor), Bobbili, D. (Contributor), Bloem, B. R. (Contributor), van de Warrenburg, B. P. C. (Contributor), Aasly, J. (Contributor), Pihlstrom, L. (Contributor), Toft, M. (Contributor), Ferreira, J. J. (Contributor), Correia Guedes, L. (Contributor), Bardien, S. (Contributor), Carr, J. (Contributor), Chung, S. J. (Contributor), Kim, Y. J. (Contributor), Diez-Fairen, M. (Contributor), Ezquerra, M. (Contributor), Pastor, P. (Contributor), Tolosa, E. (Contributor), Belin, A. C. (Contributor), Pedersen, N. L. (Contributor), Puschmann, A. (Contributor), Ran, C. (Contributor), Rodstrom, E. Y. (Contributor), Wirdefeldt, K. (Contributor), Clarke, C. E. (Contributor), Morrison, K. E. (Contributor), Tan, M. (Contributor), Edsall, C. (Contributor), Farrer, M. J. (Contributor), Krainc, D. (Contributor), Singleton, A. B. (Contributor), Burbulla, L. F. (Contributor), Hernandez, D. G. (Contributor) & Consortia, T. N. A. C. (Creator), ZENODO, 2023

    Dataset

  • Dominant mutations in MIEF1 affect mitochondrial dynamics and cause a singular late onset optic neuropathy

    Charif, M. (Creator), Wong, Y. (Creator), Kim, S. (Contributor), Guichet, A. (Creator), Vignal, C. (Creator), Zanlonghi, X. (Creator), Bensaid, P. (Creator), Procaccio, V. (Creator), Bonneau, D. (Creator), Amati-Bonneau, P. (Creator), Reynier, P. (Creator), Krainc, D. (Creator) & Lenaers, G. (Creator), figshare, 2021

    Dataset

  • 5LVX : Crystal structure of glucocerebrosidase with an inhibitory quinazoline modulator

    Zheng, J. (Contributor), Chen, L. (Contributor), Skinner, O. S. (Contributor), Lansbury, P. (Contributor), Skerlj, R. (Contributor), Mrosek, M. (Contributor), Heunisch, U. (Contributor), Krapp, S. (Contributor), Charrow, J. (Contributor), Schwake, M. (Contributor), Kelleher, N. L. (Contributor), Silverman, R. B. (Contributor) & Krainc, D. (Contributor), RCSB-PDB, 2017

    Dataset

  • Crystal structure of glucocerebrosidase with an inhibitory quinazoline modulator

    Zheng, J. (Contributor), Chen, L. (Contributor), Skinner, O. S. (Contributor), Ysselstein, D. (Contributor), Remis, J. (Contributor), Lansbury, P. (Contributor), Skerlj, R. (Contributor), Mrosek, M. (Contributor), Heunisch, U. (Contributor), Krapp, S. (Contributor), Charrow, J. (Contributor), Schwake, M. (Contributor), Kelleher, N. L. (Contributor), Silverman, R. B. (Contributor) & Krainc, D. (Contributor), Protein Data Bank (PDB), Oct 25 2017

    Dataset