Publications

(Relevant key publications; for a complete list of publications see CV or https://www.ncbi.nlm.nih.gov/pubmed/?term=Hilfiker_S).

Fasiczka, R., Naaldijk, Y., Brahmia, B. and Hilfiker, S. Insights into the cellular consequencs of LRRK2-mediated Rab protein phosphorylation. Biochem. Soc. Trans. 2023 Mar 17:BST20201145.

Fdez, E., Fasiczka, R., Lara Ordóñez, A.J., Fernández, B., Naaldijk, Y. and Hilfiker, S. Protocol to measure centrosome cohesion deficits mediated by pathogenic LRRK2 in cultured cells using confocal microscopy. Star Protoc. Mar 17:4(1):102024, 2023.

Fernández, B., Olmedo, P., Gil, F., Fdez, E., Naaldijk, Y., Rivero-Ríos, P., Bracher, F., Grimm, C., Churchill, G.C. and Hilfiker, S. Iron-induced cytotoxicity mediated by endolysosomal TRPML1 channels is reverted by TFEB. Cell Death Dis. Dec 16;13(12):1047, 2022.

Lara Ordóñez, A.J., Fasiczka, R., Fernández, B., Naaldijk, Y., Fdez, E., Blanca Ramírez, M., Phan, S., Boassa, D. and Hilfiker, S. The LRRK2 signaling network converges on a centriolar phospho-Rab10/RILPL1 complex to cause deficits in centrosome cohesion and cell polarization. Biol. Open Aug 15;11(8):bio059468, 2022.

Iovino, L., Giusti, V., Pischedda, F., Giusto, E., Plotegher, N., Marte, A., Battisti, I., Di Iacovo, A., Marku, A., Piccoli, G., Bandopadhyay, R., Perego, C., Bonifacino, T., Bonanno, G., Roseti, C., Bossi, E., Arrigoni, G., Bubacco, L., Greggio, E., Hilfiker, S. and Civiero, L. Trafficking of the glutamate transporter is impaired in LRRK2-related Parkinson´s disease. Acta Neuropathol. 144, 81-106, 2022.

Fdez, E.,  Madero-Pérez, J., Lara Ordóñez, A.J., Naaldijk, Y., Fasiczka, R., Aiastui, A., Ruiz Martínez, J., López de Munain, A., Cowley, S.A., Wade-Martins, R. and Hilfiker, S. Pathogenic LRRK2 regulates centrosome cohesion via Rab10/RILPL1-mediated CDK5RAP2 displacement. iScience 25(6):104476, 2022.

Fernández, B., Chittoor-Vinod, V.G., Kluss, J.H., Kelly, K., Bryant, N., Nguyen, A.P.T, Bukhari, S.A., Smith, N., Lara Ordóñez, A.J., Fdez, E., Chartier-Harlin, M.C., Montine, T.J., Wilson, M.A., Moore, D.J., West, A.B., Cookson, M.R., Nichols, R.J. and Hilfiker, S. Evaluation of current methods to detect cellular Leucine-rich repeat kinase 2 (LRRK2) kinase activity. J. Parkinsons Dis. 12, 1423-1447, 2022.

Lara Ordóñez, A.J., Fasiczka, R., Naaldijk, Y. and Hilfiker, S. Rab GTPases in Parkinson´s disease: a primer. Essays Biochem. 2021. Aug 20:EBC20210016.

Klionsky, D.J. et al. Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition). Autophagy 2021, 17: 1-382.

Rivero-Ríos, P., Romo-Lozano, M., Fasiczka, R., Naaldijk, Y. and Hilfiker, S. LRRK2-related Parkinson´s disease due to altered endolysosomal biology with variable Lewy body pathology: a hypothesis. Front. Neurosci. Jun 4;14:556. doi: 10.3389/fnins.2020.00556, 2020.

Rivero-Ríos, P., Romo-Lozano, M., Fernández, B., Fdez, E. and Hilfiker, S. Distinct roles for RAB10 and RAB29 in pathogenic LRRK2-mediated endolysosomal trafficking alterations. Cells Jul 17:9(7): 1719. doi: 10.3390/cells9071719, 2020.

Obergasteiger, J., Frapporti, G., Lamonaca, G., Pizzi, S., Picard, A., Lavdas, A.A., Pischedda, F., Piccoli, G., Hilfiker, S., Lobbestael, E., Baekelandt, V., Hicks, A.A., Corti, C., Pramstaller, P.P. and Volta, M. Kinase inhibition of G2019S-LRRK2 enhances autolysosome formation and function to reduce endogenous alpha-synuclein intracellular inclusions. Cell Death Discov. Jun 8;6:45. doi: 10.1038/s41420-020-0279-y, 2020.

Fernández, B., Lara Ordóñez, A.J., Fdez, E., Mutez, E., Comptdaer, T., Leghay, C., Kreisler, A., Simonin, C., Vandewynckel, L., Devebvre, L., Destée, A., Bleuse, S., Taymans, J.-M., Chartier-Harlin, M.C. and Hilfiker, S. Centrosomal cohesion deficits as cellular biomarker in lymphoblastoid cell lines from LRRK2 Parkinson´s disease patients. Biochem. J.2019 Sept 16. pii: BCJ20190315. doi: 10.1042/BCJ20190315.

Ordóñez, A.J.L., Fernández, B., Fdez, E., Romo-Lozano, M., Madero-Pérez, J., Lobbestael, E., Baekelandt, V., Aiastui, A., Munaín, A.L., Melrose, H.L., Civiero, L. and Hilfiker, S. RAB8, RAB10 and RILPL1 contribute to both LRRK2 kinase-mediated centrosomal cohesion and ciliogenesis deficits. Hum. Mol. Genet. 2019, Aug 20. pii: ddz201. doi: 10.1093/hmg/ddz201.

Rivero-Ríos, P., Romo-Lozano, M., Madero-Pérez, J., Thomas, A.P., Biosa, A., Greggio, E. and Hilfiker, S. The G2019S variant of leucine-rich repeat kinase 2 (LRRK2) alters endolysosomal trafficking by impairing the function of the GTPase RAB8A. J. Biol. Chem. 294, 4738-4758, 2019.

Madero-Pérez, J., Fernández, B., Lara Ordóñez, A.J., Fdez, E., Lobbestael, E., Baekelandt, V. and Hilfiker, S. RAB7L1-mediated relocalization of LRRK2 to the Golgi complex causes centrosomal deficits via Rab8a. Front. Mol. Neurosci. 2018, doi:10.3389/fnmol.2018.00417, 2018.

Madero-Pérez, J., Fdez, E., Fernández, B., Lara Ordóñez, A.J., Blanca Ramírez, M., Gómez-Suaga, P., Waschbuesch, D., Lobbestael, E., Baekelandt, V., Nairn, A.C., Ruiz-Martínez, J., Aiastui, A., López de Munaín, A., Lis, P., Comptdaer, T., Taymans, J.-M., Chartier-Harlin, M.-C., Beilina, A., Gonnelli, A., Cookson, M.R., Greggio, E. and Hilfiker, S. Parkinson disease-associated mutations in LRRK2 cause centrosomal defects via Rab8a phosphorylation. Mol. Neurodegener. 2018 Jan23;13(1):3, 2018.

Blanca Ramírez, M., Lara Ordóñez, A.J., Fdez, E., Madero-Pérez, J., Gonnelli, A., Drouyer, M., Chartier-Harlin, M.C., Taymans, J.M., Bubacco, L., Greggio, E. and Hilfiker, S. GTP binding regulates cellular localization of Parkinson´s disease-associated LRRK2. Hum. Mol. Genet.,26, 2747-2767, 2017.

Fernández, B., Ferrer, I., Gil, F. and Hilfiker, S. Biomonitorization of iron accumulation in the substantia nigra from Lewy body disease patients. Toxicol. Rep. 4, 188-193, 2017.

Madéro-Pérez, J., Fdez, E., Fernández, B., Lara Ordóñez, A.J., Blanca Ramírez, M., Romo Lozano, M., Rivero-Ríos, P. and Hilfiker, S. Cellular effects mediated by pathogenic LRRK2: homing in on Rab-mediated processes. Biochem. Soc. Trans. 45, 147-154, 2017.

Blanca Ramírez, M., Lara Ordóñez, A.J., Fdez, E. and Hilfiker, S. LRRK2: from kinase to GTPase to microtubules and back. Biochem. Soc. Trans. 45, 141-146, 2017.

Blanca Ramírez, M., Madero-Pérez, J., Rivero-Ríos, P., Martínez-Salvador, M., Lara Ordónez, A.J., Fernández, B., Fdez, E. and Hilfiker, S.  LRRK2 and Parkinson´s disease: from lack of structure to gain of function. Curr. Protein Pept. Sci. 18, 677-686, 2017.

Rivero-Ríos, P., Fernández, B., Madero-Pérez, J., Lozano, M.R. and Hilfiker, S. Two-pore channels and Parkinson´s disease: where´s the link? Messenger 5, 67-75, 2016.

Ferndández, B., Fdez, E., Gómez-Suaga, P., Gil, F., Molina-Villalba, I., Ferrer, I., Patel, S., Churchill, G.C. and Hilfiker, S. Iron overload causes endolysosomal deficits modulated by NAADP-regulated 2-pore channels and RAB7A. Autophagy 12, 1487-1506, 2016.

Klionsky, D.J. and >2000 others. Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition). Autophagy12, 1-222, 2016.

Rivero-Ríos, P., Fernández, B., Madero-Pérez, J. and Hilfiker, S. Targeting the autophagy/lysosomal degradation pathway in Parkinson´s disease. Curr. Neuropharmacol. 14, 238-249, 2015.

Rivero-Ríos, P., Gómez-Suaga, P., Fernández, B., Madero-Pérez, J., Schwab, A.J., Ebert, A.D. and Hilfiker, S. Alterations in late endocytic trafficking related to the pathobiology of LRRK2-linked Parkinson´s disease. Biochem. Soc. Trans. 43, 390-395, 2015.

Gómez-Suaga, P., Rivero-Ríos, P., Fdez, E., Blanca Ramírez, M., Ferrer, I., Aiastui, A., López de Munain, A. and Hilfiker, S. LRRK2 delays degradative receptor trafficking by impeding late endosomal budding through decreasing Rab7 activity. Hum. Mol. Genet. 23, 6779-6796, 2014.
Rivero-Ríos, P., Gómez-Suaga, P., Fdez, E. and Hilfiker, S. Upstream deregulation of calcium signaling in Parkinson´s disease. Frontiers Mol. Neurosci. 17 June 2014 | doi: 10.3389/fnmol.2014.00053, 2014.

Gómez-Suaga, P., Fdez, E., Fernández, B., Martínez-Salvador, M., Blanca Ramírez, M., Madero-Pérez, J., Rivero-Ríos, P., Fuentes, J.M. and Hilfiker, S. Novel insights into the neurobiology underlying LRRK2-linked Parkinson´s disease. Neuropharmacol. 85C, 45-56, 2014.

Gómez-Suaga, P., Fdez, E., Blanca Ramírez, M. and Hilfiker, S. A link between autophagy and the pathophysiology of LRRK2 in Parkinson´s disease. Park. Disease, Article ID 324521, doi:10.1155/2012/324521, 2012.

Gómez-Suaga, P., Churchill, G.C., Patel, S. and Hilfiker, S. A link between LRRK2, autophagy and NAADP-mediated endolysosomal calcium signalling. Biochem. Soc. Trans. 40, 1140-1146, 2012.

Klionsky, D.J. and 1269 others. Guidelines for the use and interpretation of assays for monitoring autophagy. Autophagy 8, 445-544, 2012.

Gómez-Suaga, P. and Hilfiker, S. LRRK2 as a modulator of lysosomal calcium homeostasis with downstream effects on autophagy. Autophagy 8, 692-693, 2012.

Gómez-Suaga, P., Luzón-Toro, B., Churamani, D., Patel, S., Zhang, L., Woodman, P.G., Churchill, G.C. and Hilfiker, S. LRRK2 kinase activity impairs autophagic flux through a pathway involving NAADP receptors. Hum. Mol. Genet.21, 511-525, 2012.

Rubio de la Torre, E., Gómez-Suaga, P., Martínez-Salvador, M. and Hilfiker, S. Posttranslational modifications as important regulators of parkin function. Curr. Med. Chem. 18, 2477-2485, 2011.

Rubio de la Torre, E., Luzón-Toro, B., Forte-Lago, I., Minguez-Castellanos, A., Ferrer, I. and Hilfiker, S. Combined kinase inhibition modulates parkin inactivation. Hum. Mol. Genet.18, 809-823, 2009.

Luzón-Toro, B., Rubio de la Torre, E., Delgado, A., Pérez-Tur, J. and Hilfiker, S. Mechanistic insight into the dominant mode of the Parkinson’s disease-associated G2019S LRRK2 mutation. Hum. Mol. Genet. 16, 2031-2039, 2007.