About our research group/lab
Our research
Molecular mechanisms of movement disorders
We are searching for genes involved in Parkinson’s disease (PD) and other movement disorders. PD is a common degenerative disease of the brain, and its pathogenesis remains poorly understood. Our research may provide novel clues for understanding of the disease mechanisms and identifying novel targets for therapies to stop and prevent the disease.
Gene finding
Our group uses unbiased strategies to identify novel genes causing or predisposing to PD and other movement disorders. Our approaches include studies of familial forms and early onset forms of disease, and modern sequencing technologies (exome sequencing and whole genome sequencing).
Functional studies
To investigate the disease mechanisms we use iPS-derived neuronal and glial cell cultures and brain organoids applying genomic, transcriptomic and proteomic technologies.
Key Publications
PTPA variants and impaired PP2A activity in early-onset parkinsonism with intellectual disability. Fevga C, Tesson C, Mascaro AC, Courtin T, van Coller R, Sakka S, Ferraro F, Farhat N, Bardien S, Damak M, Carr J, Ferrien M, Boumeester V, Hundscheid J, Grillenzoni N, Kessissoglou IA, Kuipers DJS, Quadri M; French and Mediterranean Parkinson disease Genetics Study Group; International Parkinsonism Genetics Network; Corvol JC, Mhiri C, Hassan BA, Breedveld GJ, Lesage S, Mandemakers W, Brice A, Bonifati V. (2022) Brain. (E-Pub ahead of print, Sept 8. doi: 10.1093/brain/awac326.)
EIF2AK2 Missense Variants Associated with Early Onset Generalized Dystonia. Kuipers DJS, Mandemakers W, Lu CS, Olgiati S, Breedveld GJ, Fevga C, Tadic V, Carecchio M, Osterman B, Sagi-Dain L, Wu-Chou YH, Chen CC, Chang HC, Wu SL, Yeh TH, Weng YH, Elia AE, Panteghini C, Marotta N, Pauly MG, Kühn AA, Volkmann J, Lace B, Meijer IA, Kandaswamy K, Quadri M, Garavaglia B, Lohmann K, Bauer P, Mencacci NE, Lubbe SJ, Klein C, Bertoli-Avella AM, Bonifati V. (2021) Ann Neurol. 89. 3. 485-497.
LRP10 interacts with SORL1 in the intracellular vesicle trafficking pathway in non-neuronal brain cells and localises to Lewy bodies in Parkinson's disease and dementia with Lewy bodies. Grochowska MM, Carreras Mascaro A, Boumeester V, Natale D, Breedveld GJ, Geut H, van Cappellen WA, Boon AJW, Kievit AJA, Sammler E; Netherlands Brain Bank; Parchi P, Cortelli P, Alessi DR, van de Berg WDJ, Bonifati V, Mandemakers W. (2021) Acta Neuropathol. 142. 1. 117-137.
Collaborations
Department Neurology; The Erasmus MC Genetics of Parkinson Study.
Funding & Grants
Our research is supported by grants from:
Our team
Principal Investigator
- Vincenzo Bonifati, MD, PhD, Group Head.
contact
Research team members
- Wim Mandemakers, PhD, staff scientist.
- Guido Breedveld, BSc, senior research technician.
- Ana Carreras Mascaró, PhD student.
- Martyna Grochowska, PhD student.
- Christina Fevga, PhD student.
- Federico Ferraro, PhD student.
- Philippe Wawrzyniak, PhD student.
- Ece Bilgic, MSc student.
- Valerie Boumeester, research technician.
