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Cytosolic sequestration of spatacsin by Protein Kinase A and 14-3-3 proteins (2022)
Journal Article
Cogo, S., Tomkins, J., Vavouraki, N., Giusti, V., Forcellato, F., Franchin, C., …Greggio, E. (2022). Cytosolic sequestration of spatacsin by Protein Kinase A and 14-3-3 proteins. Neurobiology of Disease, 174, https://doi.org/10.1016/j.nbd.2022.105858

Mutations in SPG11, encoding spatacsin, constitute the major cause of autosomal recessive Hereditary Spastic Paraplegia (HSP) with thinning of the corpus callosum. Previous studies showed that spatacsin orchestrates cellular traffic events through th... Read More about Cytosolic sequestration of spatacsin by Protein Kinase A and 14-3-3 proteins.

Dissecting the Phenotype and Genotype of PLA2G6?Related Parkinsonism (2021)
Journal Article
Magrinelli, F., Mehta, S., Di Lazzaro, G., Latorre, A., Edwards, M. J., Balint, B., …Bhatia, K. P. (in press). Dissecting the Phenotype and Genotype of PLA2G6‐Related Parkinsonism. Movement Disorders, https://doi.org/10.1002/mds.28807

Background Complex parkinsonism is the commonest phenotype in late-onset PLA2G6-associated neurodegeneration. Objectives The aim of this study was to deeply characterize phenogenotypically PLA2G6-related parkinsonism in the largest cohort ev... Read More about Dissecting the Phenotype and Genotype of PLA2G6?Related Parkinsonism.

Preclinical modeling of chronic inhibition of the Parkinson’s disease associated kinase LRRK2 reveals altered function of the endolysosomal system in vivo (2021)
Journal Article
Mamais, A., Cookson, M. R., Lewis, P. A., Manzoni, C., Li, Y., Mazza, M. C., & Kluss, J. H. (2021). Preclinical modeling of chronic inhibition of the Parkinson’s disease associated kinase LRRK2 reveals altered function of the endolysosomal system in vivo. Molecular Neurodegeneration, 16(1), https://doi.org/10.1186/s13024-021-00441-8

Identification of Candidate Parkinson Disease Genes by Integrating Genome-Wide Association Study, Expression, and Epigenetic Data Sets (2021)
Journal Article
Kia, D. A., Zhang, D., Guelfi, S., Manzoni, C., Hubbard, L., Reynolds, R. H., …United Kingdom Brain Expression Consortium (UKBEC) and the International Parkinson’s Disease Genomics Consortium (IPDGC). (2021). Identification of Candidate Parkinson Disease Genes by Integrating Genome-Wide Association Study, Expression, and Epigenetic Data Sets. JAMA Neurology, 78(4), 464. https://doi.org/10.1001/jamaneurol.2020.5257

IMPORTANCE Substantial genome-wide association study (GWAS) work in Parkinson disease (PD) has led to the discovery of an increasing number of loci shown reliably to be associated with increased risk of disease. Improved understanding of the underlyi... Read More about Identification of Candidate Parkinson Disease Genes by Integrating Genome-Wide Association Study, Expression, and Epigenetic Data Sets.

Network Analysis for Complex Neurodegenerative Diseases (2020)
Journal Article
Manzoni, C., Lewis, P. A., & Ferrari, R. (2020). Network Analysis for Complex Neurodegenerative Diseases. Current Genetic Medicine Reports, https://doi.org/10.1007/s40142-020-00181-z

Biomedicine is witnessing a paradigm shift in the way complex disorders are investigated. In particular, the need for big data interpretation has led to the development of pipelines that require the cooperation of different fields of expertise, inclu... Read More about Network Analysis for Complex Neurodegenerative Diseases.