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LRRK2 kinase activity is necessary for development and regeneration in Nematostella vectensis (2024)
Journal Article
Holmes, G., Ferguson, S., Lewis, P., & Echeverri, K. (2024). LRRK2 kinase activity is necessary for development and regeneration in Nematostella vectensis. Neural Development, 19(1), https://doi.org/10.1186/s13064-024-00193-3

Background The starlet sea anemone, Nematostella vectensis, is an emerging model organism with a high regenerative capacity, which was recently found to possess an orthologue to the human Leucine Rich Repeat Kinase 2 (LRRK2) gene. Mutations in this g... Read More about LRRK2 kinase activity is necessary for development and regeneration in Nematostella vectensis.

Common genetic risk for Parkinson's disease and dysfunction of the endo-lysosomal system (2024)
Journal Article
Bhore, N., Bogacki, E., OCallaghan, B., Plun-Favreau, H., Lewis, P., & Herbst, S. (2024). Common genetic risk for Parkinson's disease and dysfunction of the endo-lysosomal system. Philosophical Transactions of the Royal Society B: Biological Sciences, 379(1899), https://doi.org/10.1098/rstb.2022.0517

Parkinson's disease is a progressive neurological disorder, characterized by prominent movement dysfunction. The past two decades have seen a rapid expansion of our understanding of the genetic basis of Parkinson's, initially through the identificati... Read More about Common genetic risk for Parkinson's disease and dysfunction of the endo-lysosomal system.

Multi-ancestry genome-wide association meta-analysis of Parkinson's disease (2023)
Journal Article
Kim, J., Vitale, D., Otani, D., Lian, M., Heilbron, K., Aslibekyan, S., …Mata, I. (2023). Multi-ancestry genome-wide association meta-analysis of Parkinson's disease. Nature Genetics, https://doi.org/10.1038/s41588-023-01584-8

Although over 90 independent risk variants have been identified for Parkinson's disease using genome-wide association studies, most studies have been performed in just one population at a time. Here we performed a large-scale multi-ancestry meta-anal... Read More about Multi-ancestry genome-wide association meta-analysis of Parkinson's disease.

Differential LRRK2 Signalling and Gene Expression in WT-LRRK2 and G2019S-LRRK2 Mouse Microglia Treated with Zymosan and MLi2 (2023)
Journal Article
Nazish, I., Mamais, A., Mallach, A., Bettencourt, C., Kaganovich, A., Warner, T., …Bandopadhyay, R. (2023). Differential LRRK2 Signalling and Gene Expression in WT-LRRK2 and G2019S-LRRK2 Mouse Microglia Treated with Zymosan and MLi2. Cells, 13(1), https://doi.org/10.3390/cells13010053

Mutations in the leucine-rich repeat kinase 2 (LRRK2) gene cause autosomal dominant Parkinson's disease (PD), with the most common causative mutation being the LRRK2 p.G2019S within the kinase domain. LRRK2 protein is highly expressed in the human br... Read More about Differential LRRK2 Signalling and Gene Expression in WT-LRRK2 and G2019S-LRRK2 Mouse Microglia Treated with Zymosan and MLi2.

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.