Recent developments in gene therapy for Parkinson’s disease

Authors: Szunyogh, Sandor ^{1, 2, 3}, Carroll, Emily ^{1, 2, 3}, Wade-Martins, Richard ^{1, 2, ∗}

Source: In Molecular Therapy 7 May 2025 33(5):2052-2064

Single-cell spatial transcriptomic and translatomic profiling of dopaminergic neurons in health, aging, and disease

Authors: Kilfeather, Peter ^{1, 2, 3, 5}, Khoo, Jia Hui ^{4, 5}, Wagner, Katherina ¹, Liang, Han ⁴, Caiazza, Maria Claudia ^{1, 2, 3}, An, Yanru ⁴, Zhang, Xingju ⁴, Chen, Xiaoyan ⁴, Connor-Robson, Natalie ¹, Shang, Zhouchun ^{4, ∗}, Wade-Martins, Richard ^{1, 2, 3, 6, ∗∗}

Source: In Cell Reports 26 March 2024 43(3)

Calcium dysregulation combined with mitochondrial failure and electrophysiological maturity converge in Parkinson’s iPSC-dopamine neurons

Authors: Beccano-Kelly, Dayne A., Cherubini, Marta, Mousba, Yassine, Cramb, Kaitlyn M.L., Giussani, Stefania, Caiazza, Maria Claudia, Rai, Pavandeep, Vingill, Siv, Bengoa-Vergniory, Nora, Ng, Bryan, Corda, Gabriele, Banerjee, Abhirup, Vowles, Jane, Cowley, Sally, Wade-Martins, Richard

Source: In iScience 21 July 2023 26(7)

Post-translational proteomics platform identifies neurite outgrowth impairments in Parkinson’s disease GBA-N370S dopamine neurons

Authors: Bogetofte, Helle, Ryan, Brent J., Jensen, Pia, Schmidt, Sissel I., Vergoossen, Dana L.E., Barnkob, Mike B., Kiani, Lisa N., Chughtai, Uroosa, Heon-Roberts, Rachel, Caiazza, Maria Claudia, McGuinness, William, Márquez-Gómez, Ricardo, Vowles, Jane, Bunn, Fiona S., Brandes, Janine, Kilfeather, Peter, Connor, Jack P., Fernandes, Hugo J.R., Caffrey, Tara M., Meyer, Morten, Cowley, Sally A., Larsen, Martin R., Wade-Martins, Richard

Source: In Cell Reports 28 March 2023 42(3)

Dopamine D2 receptor upregulation in dorsal striatum in the LRRK2-R1441C rat model of early Parkinson's disease revealed by in vivo PET imaging.

Authors: Delgado-Goñi, Teresa, Connor-Robson, Natalie, Cioroch, Milena, Paisey, Stephen, Marshall, Christopher, Lane, Emma L., Hauton, David, McCullagh, James, Magill, Peter J., Cragg, Stephanie J., Mackay, Clare E., Wade-Martins, Richard, Klein, Johannes C.

Source: Scientific Reports; 5/7/2025, Vol. 15 Issue 1, p1-10, 10p

Pathogenic LRRK2 regulates centrosome cohesion via Rab10/RILPL1-mediated CDK5RAP2 displacement

Authors: Fdez, Elena ¹, Madero-Pérez, Jesús ^{1, 11}, Lara Ordóñez, Antonio J. ¹, Naaldijk, Yahaira ², Fasiczka, Rachel ², Aiastui, Ana ^{3, 4}, Ruiz-Martínez, Javier ^{3, 5, 6}, López de Munain, Adolfo ^{3, 5, 6, 7}, Cowley, Sally A. ^{8, 9}, Wade-Martins, Richard ^{9, 10}, Hilfiker, Sabine ^{3, 12, ∗}

Source: In iScience 17 June 2022 25(6)

Identification of bioactive metabolites in human iPSC-derived dopaminergic neurons with PARK2 mutation: Altered mitochondrial and energy metabolism

Authors: Okarmus, Justyna, Havelund, Jesper F., Ryding, Matias, Schmidt, Sissel I., Bogetofte, Helle, Heon-Roberts, Rachel, Wade-Martins, Richard, Cowley, Sally A., Ryan, Brent J., Færgeman, Nils J., Hyttel, Poul, Meyer, Morten

Source: In Stem Cell Reports 8 June 2021 16(6):1510-1526

Mitochondrial Dysfunction and Mitophagy in Parkinson’s Disease: From Mechanism to Therapy

Authors: Malpartida, Ana Belen, Williamson, Matthew, Narendra, Derek P., Wade-Martins, Richard, Ryan, Brent J.

Source: In Trends in Biochemical Sciences April 2021 46(4):329-343

Inhibition of the SUV4-20 H1 histone methyltransferase increases frataxin expression in Friedreich's ataxia patient cells

Authors: Vilema-Enríquez, Gabriela, Quinlan, Robert, Kilfeather, Peter, Mazzone, Roberta, Saqlain, Saba, del Molino del Barrio, Irene, Donato, Annalidia, Corda, Gabriele, Li, Fengling, Vedadi, Masoud, Németh, Andrea H., Brennan, Paul E., Wade-Martins, Richard ^*

Source: In Journal of Biological Chemistry 25 December 2020 295(52):17973-17985

The Dementias Platform UK (DPUK) Data Portal

Authors: Bauermeister, Sarah, Orton, Christopher, Thompson, Simon, Barker, Roger A., Bauermeister, Joshua R., Ben-Shlomo, Yoav, Brayne, Carol, Burn, David, Campbell, Archie, Calvin, Catherine, Chandran, Siddharthan, Chaturvedi, Nishi, Chêne, Geneviève, Chessell, Iain P., Corbett, Anne, Davis, Daniel H. J., Denis, Mike, Dufouil, Carole, Elliott, Paul, Fox, Nick, Hill, Derek, Hofer, Scott M., Hu, Michele T., Jindra, Christoph, Kee, Frank, Kim, Chi-Hun, Kim, Changsoo, Kivimaki, Mika, Koychev, Ivan, Lawson, Rachael A., Linden, Gerry J., Lyons, Ronan A., Mackay, Clare, Matthews, Paul M., McGuiness, Bernadette, Middleton, Lefkos, Moody, Catherine, Moore, Katrina, Na, Duk L., O’Brien, John T., Ourselin, Sebastien, Paranjothy, Shantini, Park, Ki-Soo, Porteous, David J., Richards, Marcus, Ritchie, Craig W., Rohrer, Jonathan D., Rossor, Martin N., Rowe, James B., Scahill, Rachael, Schnier, Christian, Schott, Jonathan M., Seo, Sang W., South, Matthew, Steptoe, Matthew, Tabrizi, Sarah J., Tales, Andrea, Tillin, Therese, Timpson, Nicholas J., Toga, Arthur W., Visser, Pieter-Jelle, Wade-Martins, Richard, Wilkinson, Tim, Williams, Julie, Wong, Andrew, Gallacher, John E. J.

Source: European Journal of Epidemiology, 2020 Jan 01. 35(6), 601-611.

Access URL: https://www.jstor.org/stable/48728902

LRRK2 Is Recruited to Phagosomes and Co-recruits RAB8 and RAB10 in Human Pluripotent Stem Cell-Derived Macrophages

Authors: Lee, Heyne, Flynn, Rowan, Sharma, Ishta, Haberman, Emma, Carling, Phillippa J., Nicholls, Francesca J., Stegmann, Monika, Vowles, Jane, Haenseler, Walther, Wade-Martins, Richard, James, William S., Cowley, Sally A.

Source: In Stem Cell Reports 12 May 2020 14(5):940-955

Deep phenotyping of peripheral tissue facilitates mechanistic disease stratification in sporadic Parkinson’s disease

Authors: Carling, Phillippa J, Mortiboys, Heather, Green, Claire, Mihaylov, Simeon, Sandor, Cynthia, Schwartzentruber, Aurelie, Taylor, Rosie, Wei, Wenbin, Hastings, Chris, Wong, Siew, Lo, Christine, Evetts, Samuel, Clemmens, Hannah, Wyles, Matthew, Willcox, Sam, Payne, Thomas, Hughes, Rachel, Ferraiuolo, Laura, Webber, Caleb, Hide, Winston, Wade-Martins, Richard, Talbot, Kevin, Hu, Michele T., Bandmann, Oliver ^*

Source: In Progress in Neurobiology April 2020 187

Recommendations for measuring whisker movements and locomotion in mice with sensory, motor and cognitive deficits

Authors: Simanaviciute, Ugne, Ahmed, Jewel, Brown, Richard E, Connor-Robson, Natalie, Farr, Tracy D., Fertan, Emre, Gambles, Nikki, Garland, Huw, Morton, A. Jennifer, Staiger, Jochen F., Skillings, Elizabeth A., Trueman, Rebecca C., Wade-Martins, Richard, Wood, Nigel I., Wong, Aimee A., Grant, Robyn A. ^*

Source: In Journal of Neuroscience Methods 1 February 2020 331

Application of CRISPR/Cas9 editing and digital droplet PCR in human iPSCs to generate novel knock-in reporter lines to visualize dopaminergic neurons

Authors: Überbacher, Christa, Obergasteiger, Julia, Volta, Mattia, Venezia, Serena, Müller, Stefan, Pesce, Isabella, Pizzi, Sara, Lamonaca, Giulia, Picard, Anne, Cattelan, Giada, Malpeli, Giorgio, Zoli, Michele, Beccano-Kelly, Dayne, Flynn, Rowan, Wade-Martins, Richard, Pramstaller, Peter P., Hicks, Andrew A., Cowley, Sally A., Corti, Corrado

Source: In Stem Cell Research December 2019 41

Perturbations in RhoA signalling cause altered migration and impaired neuritogenesis in human iPSC-derived neural cells with PARK2 mutation

Authors: Bogetofte, Helle, Jensen, Pia, Okarmus, Justyna, Schmidt, Sissel Ida, Agger, Mikkel, Ryding, Matias, Nørregaard, Peter, Fenger, Christina, Zeng, Xianmin, Graakjær, Jesper, Ryan, Brent James, Wade-Martins, Richard, Larsen, Martin Røssel, Meyer, Morten

Source: In Neurobiology of Disease December 2019 132

Lysosomal Dysfunction at the Centre of Parkinson’s Disease and Frontotemporal Dementia/Amyotrophic Lateral Sclerosis

Authors: Wallings, Rebecca L., Humble, Stewart W., Ward, Michael E., Wade-Martins, Richard

Source: In Trends in Neurosciences December 2019 42(12):899-912

Impairment of Macroautophagy in Dopamine Neurons Has Opposing Effects on Parkinsonian Pathology and Behavior

Authors: Hunn, Benjamin H.M., Vingill, Siv, Threlfell, Sarah, Alegre-Abarrategui, Javier, Magdelyns, Morgane, Deltheil, Thierry, Bengoa-Vergniory, Nora, Oliver, Peter L., Cioroch, Milena, Doig, Natalie M., Bannerman, David M., Cragg, Stephanie J., Wade-Martins, Richard

Source: In Cell Reports 22 October 2019 29(4):920-931

RNA sequencing reveals MMP2 and TGFB1 downregulation in LRRK2 G2019S Parkinson's iPSC-derived astrocytes

Authors: Booth, Heather D.E., Wessely, Frank, Connor-Robson, Natalie, Rinaldi, Federica, Vowles, Jane, Browne, Cathy, Evetts, Samuel G., Hu, Michele T., Cowley, Sally A., Webber, Caleb, Wade-Martins, Richard

Source: In Neurobiology of Disease September 2019 129:56-66

An integrated transcriptomics and proteomics analysis reveals functional endocytic dysregulation caused by mutations in LRRK2

Authors: Connor-Robson, Natalie, Booth, Heather, Martin, Jeffrey G., Gao, Benbo, Li, Kejie, Doig, Natalie, Vowles, Jane, Browne, Cathy, Klinger, Laura, Juhasz, Peter, Klein, Christine, Cowley, Sally A., Bolam, Paul, Hirst, Warren, Wade-Martins, Richard

Source: In Neurobiology of Disease July 2019 127:512-526

Single-Cell Sequencing of iPSC-Dopamine Neurons Reconstructs Disease Progression and Identifies HDAC4 as a Regulator of Parkinson Cell Phenotypes

Authors: Lang, Charmaine, Campbell, Kieran R., Ryan, Brent J., Carling, Phillippa, Attar, Moustafa, Vowles, Jane, Perestenko, Olga V., Bowden, Rory, Baig, Fahd, Kasten, Meike, Hu, Michele T., Cowley, Sally A., Webber, Caleb, Wade-Martins, Richard

Source: In Cell Stem Cell 3 January 2019 24(1):93-106