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All Outputs (35)

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.

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.

Estimating the causal influence of body mass index on risk of Parkinson disease: A Mendelian randomisation study (2017)
Journal Article
Noyce, A. J., Kia, D. A., Hemani, G., Nicolas, A., Price, T. R., De Pablo-Fernandez, E., Haycock, P. C., Lewis, P. A., Foltynie, T., Smith, G. D., Schrag, A., Lees, A. J., Hardy, J., Singleton, A., Nalls, M. A., Pearce, N., Lawlor, D. A., & Wood, N. W. (2017). Estimating the causal influence of body mass index on risk of Parkinson disease: A Mendelian randomisation study. PLoS Medicine, 14(6), https://doi.org/10.1371/journal.pmed.1002314

Both positive and negative associations between higher body mass index (BMI) and Parkinson disease (PD) have been reported in observational studies, but it has been difficult to establish causality because of the possibility of residual confounding o... Read More about Estimating the causal influence of body mass index on risk of Parkinson disease: A Mendelian randomisation study.

Distinct clinical and neuropathological features of G51D SNCA mutation cases compared with SNCA duplication and H50Q mutation (2015)
Journal Article
Kiely, A. P., Ling, H., Asi, Y. T., Kara, E., Proukakis, C., Schapira, A. H., Morris, H. R., Lubbe, S., Limousin, P., Lewis, P. A., Lees, A. J., Quinn, N., Hardy, J., Love, S., Revesz, T., Houlden, H., & Holton, J. L. (2015). Distinct clinical and neuropathological features of G51D SNCA mutation cases compared with SNCA duplication and H50Q mutation. Molecular Neurodegeneration, 10, 41. https://doi.org/10.1186/s13024-015-0038-3

We and others have described the neurodegenerative disorder caused by G51D SNCA mutation which shares characteristics of Parkinson’s disease (PD) and multiple system atrophy (MSA). The objective of this investigation was to extend the description of... Read More about Distinct clinical and neuropathological features of G51D SNCA mutation cases compared with SNCA duplication and H50Q mutation.

Parkinson’s Disease-Linked Mutations in VPS35 Induce Dopaminergic Neurodegeneration (2014)
Journal Article
Tsika, E., Glauser, L., Moser, R., Fiser, A., Daniel, G., Sheerin, U., Lees, A., Troncoso, J. C., Lewis, P. A., Bandopadhyay, R., Schneider, B. L., & Moore, D. J. (2014). Parkinson’s Disease-Linked Mutations in VPS35 Induce Dopaminergic Neurodegeneration. Human Molecular Genetics, 23(17), 4621-4638. https://doi.org/10.1093/hmg/ddu178

Mutations in the vacuolar protein sorting 35 homolog (VPS35) gene at the PARK17 locus, encoding a key component of the retromer complex, were recently identified as a new cause of late-onset, autosomal dominant Parkinson's disease (PD). Here we explo... Read More about Parkinson’s Disease-Linked Mutations in VPS35 Induce Dopaminergic Neurodegeneration.

Genetic and phenotypic characterisation of complex hereditary spastic paraplegia
Journal Article
Kara, E., Tucci, A., Manzoni, C., Lynch, D., Elpidorou, M., Bettencourt, C., Chelban, V., Manole, A., Hamed, S., Federoff, M., Preza, E., Hughes, D., Pittman, A., Jaunmuktane, Z., Brandner, S., Xiromerisiou, G., Wiethoff, S., Schottlaender, L., Proukakis, C., Morris, H., …Lewis, P. A. H. H. (in press). Genetic and phenotypic characterisation of complex hereditary spastic paraplegia. Brain, 139(7), 1904-1918. https://doi.org/10.1093/brain/aww111

Regulation of mitophagy by the NSL complex underlies genetic risk for Parkinson’s disease at Chr16q11.2 and on the MAPT H1 allele
Report
Soutar, M., Melandri, D., Annuario, E., Monaghan, A., Welsh, N., D’Sa, K., Guelfi, S., Zhang, D., Pittman, A., Trabzuni, D., Pan, K., Kia, D., Bictash, M., Gandhi, S., Houlden, H., Cookson, M., Wood, N., Singleton, A., Hardy, J., Whiting, P., …Plun-Favreau, H. Regulation of mitophagy by the NSL complex underlies genetic risk for Parkinson’s disease at Chr16q11.2 and on the MAPT H1 allele

Parkinson’s disease (PD) is a common incurable neurodegenerative disease. The identification of genetic variants via genome-wide association studies (GWAS) has considerably advanced our understanding of the PD genetic risk. Understanding the function... Read More about Regulation of mitophagy by the NSL complex underlies genetic risk for Parkinson’s disease at Chr16q11.2 and on the MAPT H1 allele.

An integrated genomic approach to dissect the genetic landscape regulating the cell-to-cell transfer of a-synuclein
Report
Kara, E., Crimi, A., Wiedmer, A., Emmenegger, M., Manzoni, C., Bandres-Ciga, S., D’Sa, K., Reynolds, R., Botía, J., Losa, M., Lysenko, V., Carta, M., Heinzer, D., Avar, M., Chincisan, A., Blauwendraat, C., Ruiz, S., Pease, D., Mottier, L., Carrella, A., …Aguzzi, A. An integrated genomic approach to dissect the genetic landscape regulating the cell-to-cell transfer of a-synuclein

Neuropathological and experimental evidence suggests that the cell-to-cell transfer of a-synuclein has an important role in the pathogenesis of Parkinson’s disease (PD). However, the mechanism underlying this phenomenon is not fully understood. We un... Read More about An integrated genomic approach to dissect the genetic landscape regulating the cell-to-cell transfer of a-synuclein.

Mutations in Auxilin cause parkinsonism via impaired clathrin-mediated trafficking at the Golgi apparatus and synapse
Report
Roosen, D., Landeck, N., Conti, M., Smith, N., Saez-Atienzar, S., Ding, J., Beilina, A., Kumaran, R., Kaganovich, A., Hoffmann, J., Williamson, C., Gershlick, D., Bonet-Ponce, L., Sampieri, L., Bleck, C., Liu, C., Bonifacino, J., Li, Y., Lewis, P., & Cookson, M. Mutations in Auxilin cause parkinsonism via impaired clathrin-mediated trafficking at the Golgi apparatus and synapse

Parkinson’s disease (PD) is a common neurodegenerative motor disorder characterized in part by neuropathological lesions in the nigrostriatal pathway. While most cases of PD are sporadic in nature, several inherited monogenic syndromes exist that ove... Read More about Mutations in Auxilin cause parkinsonism via impaired clathrin-mediated trafficking at the Golgi apparatus and synapse.

LRRK2 is a negative regulator of Mycobacterium tuberculosis phagosome maturation in macrophages
Journal Article
Härtlova, A., Herbst, S., Peltier, J., Rodgers, A., Bilkei-Gorzo, O., Fearns, A., Dill, B. D., Lee, H., Flynn, R., Cowley, S. A., Davies, P., Lewis, P. A., Ganley, I. G., Martinez, J., Alessi, D. R., Reith, A. D., Trost, M., & Gutierrez, M. G. (in press). LRRK2 is a negative regulator of Mycobacterium tuberculosis phagosome maturation in macrophages. EMBO Journal, 37, https://doi.org/10.15252/embj.201798694