All Outputs (3)

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.

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.

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.