Bench-to-Bedside Parkinson's Disease Research: Biomarkers in LRRK2 (NHS Research Scotland (NRS) and Scottish Universities Scottish Senior Clinical Academic Fellowship Scheme)

Research output

Research output per year 2019 2021 2022 2025

• 13 Article
• 2 Preprint
• 1 Comment/debate
• 1 Editorial
• 1 More
  • 1 Digital or Visual Products

Research output per year

Research output per year

Search results

• 2025

  Inflammation and IL-4 regulate Parkinson’s and Crohn’s disease associated kinase LRRK2

  Dikovskaya, D. (Lead / Corresponding author), Pemberton, R., Taylor, M., Tasegian, A., Bhattacharya, P., Zeneviciute, K., Sammler, E. M., Howden, A. J. M., Alessi, D. R. & Swamy, M. (Lead / Corresponding author), 20 May 2025, (E-pub ahead of print) In: EMBO Reports. 30 p., NS20180005.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Parkinson's Disease 100%
  • Protein Kinase 2 100%
  • Leucine-rich Repeat Protein 100%
  • Inflammation 100%
  • Disease-associated 100%
  6 Downloads (Pure)

• Tagless LysoIP for immunoaffinity enrichment of native lysosomes from clinical samples

  Saarela, D., Lis, P., Gomes, S., Nirujogi, R., Dong, W., Rawat, E. S., Glendinning, S., Zeneviciute, K., Bagnoli, E., Fasimoye, R., Lin, C., Nyame, K., Boros, F. A., Zunke, F., Lamoliatte, F., Elshani, S., Jaconelli, M., Jans, J. J. M., Huisman, M. A. & Posern, C. & 6 others, Westermann, L. M., Schulz, A., van Hasselt, P. M., Alessi, D. (Lead / Corresponding author), Abu-Remaileh, M. (Lead / Corresponding author) & Sammler, E. (Lead / Corresponding author), 17 Feb 2025, In: Journal of Clinical Investigation. 135, 4, 15 p., e183592.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Lysosome 100%
  • Clinical Samples 100%
  • Tagless 100%
  • Immunoaffinity Enrichment 100%
  • Antibody Affinity 100%
  1 Citation (Scopus)

  26 Downloads (Pure)
• 2024

  Tagless LysoIP method for molecular profiling of lysosomal content in clinical samples

  Saarela, D., Lis, P., Gomes, S., Nirujogi, R., Dong, W., Rawat, E. S., Glendinning, S., Zeneviciute, K., Bagnoli, E., Fasimoye, R., Lin, C., Nyame, K., Boros, F. A., Zunke, F., Lamoliatte, F., Elshani, S., Jaconelli, M., Jans, J. J. M. J., Huisman, M. A. & Posern, C. & 6 others, Westermann, L. M. W., Schulz, A., van Hasselt, P. M., Alessi, D. (Lead / Corresponding author), Abu-Remaileh, M. (Lead / Corresponding author) & Sammler, E. (Lead / Corresponding author), 27 May 2024, BioRxiv, 31 p.

  Research output: Working paper/Preprint › Preprint

  • Lysosome 100%
  • Clinical Samples 100%
  • Molecular Profiling 100%
  • Tagless 100%
  • Co-immunoprecipitation (co-IP) 28%
• 2023

  Elevated urine BMP phospholipids in LRRK2 and VPS35 mutation carriers with and without Parkinson’s disease

  Gomes, S., Garrido, A., Tonelli, F., Obiang, D., Tolosa, E., José Martí, M., Ruiz-Martínez, J., Vinagre Aragón, A., Hernandez-Eguiazu, H., Croitoru, I., Marshall, V. L., Koenig, T., Hotzy, C., Hsieh, F., Sakalosh, M., Tengstrand, E., Padmanabhan, S., Merchant, K. M., Bruecke, C. & Pirker, W. & 2 others, Zimprich, A. & Sammler, E. (Lead / Corresponding author), 4 Apr 2023, In: NPJ Parkinson's disease. 9, 4 p., 52.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Parkinson's Disease 100%
  • Mutation Carriers 100%
  • Bisphosphonates 100%
  • Phospholipids 100%
  • Leucine-rich Repeat Kinase 2 (LRRK2) 100%
  15 Citations (Scopus)

  195 Downloads (Pure)

• The New p.F1700L LRRK2 Variant Causes Parkinson’s Disease by Extensively Increasing Kinase Activity

  Borsche, M., Pratuseviciute, N., Schaake, S., Hinrichs, F., Morel, G., Uter, J., Lohmann, K., Klein, C., Alessi, D., Hagenah, J. & Sammler, E. (Lead / Corresponding author), Jun 2023, In: Movement Disorders. 38, 6, p. 1105-1107 3 p.

  Research output: Contribution to journal › Comment/debate › peer-review

  Open Access

  File
  6 Citations (Scopus)

  133 Downloads (Pure)
• 2022

  A mitochondrial blood-based patient stratification candidate biomarker for Parkinson’s disease

  Fox BioNet Investigators, Qi, R., Sammler, E., Gonzalez-Hunt, C. P., Pena, N., Rouanet, J. P., Goodson, S., Fuzatti, M., Blandini, F., Erickson, K. I., Weinstein, A. M., Padmanabhan, S., Tonelli, F., Alessi, D., Shiva, S. & Sanders, L. H., 9 Feb 2022, BioRxiv.

  Research output: Working paper/Preprint › Preprint

  Open Access

  File

  • Parkinson's Disease 100%
  • Patient Stratification 100%
  • Blood-based 100%
  • Mitochondrial DNA Damage 100%
  • Biological Marker 100%
  108 Downloads (Pure)

• Discovery of XL01126: A Potent, Fast, Cooperative, Selective, Orally Bioavailable, and Blood-Brain Barrier Penetrant PROTAC Degrader of Leucine-Rich Repeat Kinase 2

  Liu, X., Kalogeropulou, A. F., Domingos, S., Makukhin, N., Nirujogi, R., Singh, F., Shpiro, N., Saalfrank, A., Sammler, E., Ganley, I. G., Moreira, R., Alessi, D. R. (Lead / Corresponding author) & Ciulli, A. (Lead / Corresponding author), 21 Sept 2022, In: Journal of the American Chemical Society. 144, 37, p. 16930-16952 23 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Blood-brain Barrier 100%
  • Penetrant 100%
  • Orally Bioavailable 100%
  • Leucine-rich Repeat Kinase 2 (LRRK2) 100%
  • Proteolysis Targeting chimera (PROTAC) 100%
  112 Citations (Scopus)

  444 Downloads (Pure)

• Impact of 100 LRRK2 variants linked to Parkinson’s Disease on kinase activity and microtubule binding

  Kalogeropulou, A. F., Purlyte, E., Tonelli, F., Lange, S. M., Wightman, M., Prescott, A. R., Padmanabhan, S., Sammler, E. & Alessi, D. R. (Lead / Corresponding author), 6 Sept 2022, In: Biochemical Journal. 479, 17, p. 1759-1783 25 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Parkinson's Disease 100%
  • Kinase Activity 100%
  • Microtubule Binding 100%
  • Leucine-rich Repeat Kinase 2 (LRRK2) 100%
  • Phosphotransferase 100%
  57 Citations (Scopus)

  169 Downloads (Pure)

• Molecular mechanisms defining penetrance of LRRK2-associated Parkinson's disease

  Trinh, J., Schymanski, E. L., Smajic, S., Kasten, M., Sammler, E. & Grünewald, A. (Lead / Corresponding author), 31 Aug 2022, In: Medizinische Genetik. 34, 2, p. 103-116 14 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Molecular Mechanism 100%
  • Parkinson's Disease 100%
  • Penetrance 100%
  • Leucine-rich Repeat Kinase 2 (LRRK2) 100%
  • Phosphotransferase 100%
  6 Citations (Scopus)

  106 Downloads (Pure)

• Testing blood in Parkinson's disease

  Sammler, E. (Contributing member), Filipe Soares, R. (Contributing member), Cameron, A. (Producer) & Soave, S. (Film-maker), 14 Sept 2022

  Research output: Non-textual form › Digital or Visual Products

  • Parkinson's Disease 100%
  • viewer 100%
  • Medical Research Council 100%
  • Clinical 100%
  • Scientists 100%
• 2021

  Development of a multiplexed targeted mass spectrometry assay for LRRK2-phosphorylated Rabs and Ser910/Ser935 biomarker sites

  Nirujogi, R. S. (Lead / Corresponding author), Tonelli, F., Taylor, M., Lis, P., Zimprich, A., Sammler, E. & Alessi, D. R. (Lead / Corresponding author), 22 Jan 2021, In: Biochemical Journal. 478, 2, p. 299-326 28 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Leucine-rich Repeat Kinase 2 (LRRK2) 100%
  • Multiplexing 100%
  • Targeted Mass Spectrometry 100%
  • Mass Spectrometry 100%
  • LRRK2 100%
  38 Citations (Scopus)

  278 Downloads (Pure)

• LIPAD (LRRK2/Luebeck International Parkinson's Disease) Study Protocol: Deep Phenotyping of an International Genetic Cohort

  Usnich, T., Vollstedt, E.-J., Schell, N., Skrahina, V., Bogdanovic, X., Gaber, H., Förster, T. M., Heuer, A., Koleva-Alazeh, N., Csoti, I., Basak, A. N., Ertan, S., Genc, G., Bauer, P., Lohmann, K., Grünewald, A., Schymanski, E. L., Trinh, J., Schaake, S. & Berg, D. & 16 others, Gruber, D., Isaacson, S. H., Kühn, A. A., Mollenhauer, B., Pedrosa, D. J., Reetz, K., Sammler, E. M., Valente, E. M., Valzania, F., Volkmann, J., Zittel, S., Brüggemann, N., Kasten, M., Rolfs, A., Klein, C. (Lead / Corresponding author) & LIPAD Study Group, 9 Aug 2021, In: Frontiers in Neurology. 12, 7 p., 710572.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Parkinson's Disease 100%
  • Leucine-rich Repeat Kinase 2 (LRRK2) 100%
  • Deep Phenotyping 100%
  • Genetics 100%
  • Phosphotransferase 100%
  5 Citations (Scopus)

  118 Downloads (Pure)

• LRP10 interacts with SORL1 in the intracellular vesicle trafficking pathway in non-neuronal brain cells and localises to Lewy bodies in Parkinson's disease and dementia with Lewy bodies

  Grochowska, M. M., Carreras Mascaro, A., Boumeester, V., Natale, D., Breedveld, G. J., Geut, H., van Cappellen, W. A., Boon, A. J. W., Kievit, A. J. A., Sammler, E., Netherlands Brain Bank, Parchi, P., Cortelli, P., Alessi, D. R., van de Berg, W. D. J., Bonifati, V. & Mandemakers, W. (Lead / Corresponding author), Jul 2021, In: Acta Neuropathologica. 142, p. 117-137 21 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Parkinson's Disease 100%
  • Receptor 1 100%
  • Brain Cells 100%
  • Intracellular Vesicles 100%
  • Non-neuronal 100%
  16 Citations (Scopus)

  105 Downloads (Pure)

• R1441G but not G2019S mutation enhances LRRK2 mediated Rab10 phosphorylation in human peripheral blood neutrophils

  Fan, Y., Nirujogi, R. S., Garrido, A., Ruiz-Martínez, J., Bergareche-Yarza, A., Mondragón Rezola, E., Vinagre Aragón, A., Croitoru, I., Gorostidi Pagola, A., Markinez, L. P., Alcalay, R., Hickman, R. A., Düring, J., Gomes, S., Pratuseviciute, N., Padmanabhan, S., Valldeoriola, F., Pérez Sisqués, L., Malagelada, C. & Ximelis, T. & 5 others, Molina Porcel, L., José Martí, M., Tolosa, E., Alessi, D. R. & Sammler, E. M. (Lead / Corresponding author), Sept 2021, In: Acta Neuropathologica. 142, p. 475-494 20 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Phosphorylation 100%
  • Leucine-rich Repeat Kinase 2 (LRRK2) 100%
  • R1441C 100%
  • G2019S mutation 100%
  • Peripheral Blood Neutrophils 100%
  39 Citations (Scopus)

  175 Downloads (Pure)

• The commercial genetic testing landscape for Parkinson's disease

  Cook, L. (Lead / Corresponding author), Schulze, J., Verbrugge, J., Beck, J. C., Marder, K. S., Saunders-Pullman, R., Klein, C., Naito, A., Alcalay, R. N., ClinGen Parkinson's Disease Gene Curation Expert Panel & MDS Task Force for Recommendations for Genetic Testing in Parkinson's Disease, Nov 2021, In: Parkinsonism & Related Disorders. 92, p. 107-111 5 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Genetic Testing 100%
  • Parkinson's Disease 100%
  • Genetic Screening 100%
  • Genetic Test 66%
  • Gene Linkage 33%
  21 Citations (Scopus)

  169 Downloads (Pure)
• 2020

  Accurate MS-based Rab10 phosphorylation stoichiometry determination as readout for LRRK2 activity in Parkinson's disease

  Karayel, O., Tonelli, F., Virreira Winter, S., Geyer, P. E., Fan, Y., Sammler, E. M., Alessi, D., Steger, M. (Lead / Corresponding author) & Mann, M. (Lead / Corresponding author), 1 Sept 2020, In: Molecular & Cellular Proteomics. 19, 9, p. 1546-1560 15 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Parkinson's Disease 100%
  • Phosphorylation Stoichiometry 100%
  • Leucine-rich Repeat Kinase 2 (LRRK2) 100%
  • Rab10 100%
  • Accurate Mass Spectrometry 100%
  41 Citations (Scopus)

  206 Downloads (Pure)

• Human Peripheral Blood Neutrophil Isolation for Interrogating the Parkinson’s Associated LRRK2 Kinase Pathway by Assessing Rab10 Phosphorylation

  Fan, Y., Tonelli, F., Padmanabhan, S., Baptista, M., Riley, L., Smith, D., Marras, C., Howden, A., Alessi, D. & Sammler, E. (Lead / Corresponding author), 22 Mar 2020, In: JoVE: Journal of Visualized Experiments. 157, e58956.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Parkinson 100%
  • Phosphorylation 100%
  • Kinase Cascade 100%
  • Leucine-rich Repeat Kinase 2 (LRRK2) 100%
  • Peripheral Blood Neutrophils 100%
  10 Citations (Scopus)

  316 Downloads (Pure)
• 2019

  Using global team science to identify genetic parkinson's disease worldwide

  Vollstedt, E. J., Kasten, M., Klein, C. (Lead / Corresponding author) & MJFF Global Genetic Parkinson's Disease Study Group, Aug 2019, In: Annals of Neurology. 86, 2, p. 153-157 5 p.

  Research output: Contribution to journal › Editorial › peer-review
  27 Citations (Scopus)