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All Outputs (12)

Regulation of mitophagy by the NSL complex underlies genetic risk for Parkinson’s disease at 16q11.2 and MAPT H1 loci (2022)
Journal Article
Soutar, M. P. M., Melandri, D., O’Callaghan, B., Annuario, E., Monaghan, A. E., Welsh, N. J., D’Sa, K., Guelfi, S., Zhang, D., Pittman, A., Trabzuni, D., Verboven, A. H. A., Pan, K. S., Kia, D. A., Bictash, M., Gandhi, S., Houlden, H., Cookson, M. R., Kasri, N. N., Wood, N. W., …Plun-Favreau, H. (2022). Regulation of mitophagy by the NSL complex underlies genetic risk for Parkinson’s disease at 16q11.2 and MAPT H1 loci. Brain, 145(12), 4349-4367. https://doi.org/10.1093/brain/awac325

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., Basu, P., Kobylecki, C., Groppa, S., Hegde, A., Mulroy, E., Estevez‐Fraga, C., Arora, A., Kumar, H., Schneider, S. A., Lewis, P. A., Jaunmuktane, Z., Revesz, T., Gandhi, S., Wood, N. W., …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.

SORL1 mutation in a Greek family with Parkinson's disease and dementia (2021)
Journal Article
Xiromerisiou, G., Bourinaris, T., Houlden, H., Lewis, P. A., Senkevich, K., Hammer, M., Federoff, M., Khan, A., Spanaki, C., Hadjigeorgiou, G. M., Bonstanjopoulou, S., Fidani, L., Ermolaev, A., Gan‐Or, Z., Singleton, A., Vandrovcova, J., & Hardy, J. (2021). SORL1 mutation in a Greek family with Parkinson's disease and dementia. Annals of Clinical and Translational Neurology, https://doi.org/10.1002/acn3.51433

An integrated genomic approach to dissect the genetic landscape regulating the cell-to-cell transfer of α-synuclein (2021)
Journal Article
Kara, E., Crimi, A., Wiedmer, A., Emmenegger, M., Manzoni, C., Bandres-Ciga, S., D’Sa, K., Reynolds, R. H., Botía, J. A., Losa, M., Lysenko, V., Carta, M., Heinzer, D., Avar, M., Chincisan, A., Blauwendraat, C., García-Ruiz, S., Pease, D., Mottier, L., Carrella, A., …Aguzzi, A. (2021). An integrated genomic approach to dissect the genetic landscape regulating the cell-to-cell transfer of α-synuclein. Cell Reports, 35(10), 109189. https://doi.org/10.1016/j.celrep.2021.109189

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., Botía, J., Ryten, M., Ferrari, R., Lewis, P. A., Williams, N., Trabzuni, D., Hardy, J., Wood, N. W., Noyce, A. J., Kaiyrzhanov, R., Middlehurst, B., Kia, D. A., Tan, M., Houlden, 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.