Publications

1. Laura Brandenstein, Michaela Schweizer, Jan Sedlacik, Jens Fiehler, Stephan Storch, 2016, 'Lysosomal dysfunction and impaired autophagy in a novel mouse model deficient for the lysosomal membrane protein Cln7', Human Molecular Genetics , 25/4, 777-791

2. Wanda Jankowiak, Laura Brandenstein, Simon Dulz, Christian Hagel, Stephan Storch, Udo Bartsch, 2016, 'Retinal Degeneration in Mice Deficient in the Lysosomal Membrane Protein CLN7', Investigative Opthalmology & Visual Science, 57/11, 4989

3. Irene Lopez-Fabuel, Lucia Martin-Martin, Monica Resch-Beusher, Garikoitz Azkona, Rosario Sanchez-Pernaute, Juan P. Bolaños, 2017, 'Mitochondrial respiratory chain disorganization in Parkinson's disease-relevant PINK1 and DJ1 mutants', Neurochemistry International, 109, 101-105

4. Irene Lopez-Fabuel, Monica Resch-Beusher, Monica Carabias-Carrasco, Angeles Almeida, Juan P. Bolaños, 2017, Mitochondrial Complex I Activity is Conditioned by Supercomplex I–III2–IV Assembly in Brain Cells: Relevance for Parkinson’s Disease, Neurochemical Research, 42/6, 1676-1682

5. Emilio Fernandez, Juan P. Bolaños, 2016, α-Ketoglutarate dehydrogenase complex moonlighting: ROS signalling added to the list, Journal of Neurochemistry, 139/5, 689-690

6. Irene Lopez-Fabuel, Juliette Le Douce, Angela Logan, Andrew M. James, Gilles Bonvento, Michael P. Murphy, Angeles Almeida, Juan P. Bolaños, 2016, Complex I assembly into supercomplexes determines differential mitochondrial ROS production in neurons and astrocytes, Proceedings of the National Academy of Sciences, 113/46, 13063-13068

7. Juan P. Bolaños, 2016, Bioenergetics and redox adaptations of astrocytes to neuronal activity, Journal of Neurochemistry, 139, 115-125

8. Raquel Requejo-Aguilar, Juan P. Bolaños, 2016, Mitochondrial control of cell bioenergetics in Parkinson’s disease,Free Radical Biology and Medicine, 100, 123-137

9. Kate E. Hawkins, Shona Joy, Juliette M.K.M. Delhove, Vassilios N. Kotiadis, Emilio Fernandez, Lorna M. Fitzpatrick, James R. Whiteford, Peter J. King, Juan P. Bolanos, Michael R. Duchen, Simon N. Waddington, Tristan R. McKay, 2016, NRF2 Orchestrates the Metabolic Shift during Induced Pluripotent Stem Cell Reprogramming, Cell Reports, 14/8, 1883-1891

10. Davide Marotta, Elisa Tinelli, Sara E. Mole, 2017, NCLs and ER: A stressful relationship, Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 1863/6, 1273-1281

11. L. Felipe Barros, Juan P. Bolaños, Gilles Bonvento, Anne-Karine Bouzier-Sore, Angus Brown, Johannes Hirrlinger, Sergey Kasparov, Frank Kirchhoff, Anne N. Murphy, Luc Pellerin, Michael B. Robinson, Bruno Weber, 2018, Current technical approaches to brain energy metabolism, Glia, 66/6, 1138-1159

12. Tatyana Danyukova, Khandsuren Ariunbat, Melanie Thelen, Nahal Brocke-Ahmadinejad, Sara E Mole, Stephan Storch, Loss of CLN7 results in depletion of soluble lysosomal proteins and impaired mTOR reactivation, Human Molecular Genetics, 27/10, 1711-1722

13. Rita J. Guerreiro, Rachel Brown, Donnai Dian, Christian de Goede, Jose Bras, Sara E. Mole, 2016, Mutation of TBCK causes a rare recessive developmental disorder, Neurology Genetics, 2/3, e76

14. Lorna M. FitzPatrick, Kate E. Hawkins, Juliette M.K.M. Delhove, Emilio Fernandez, Chiara Soldati, Louise F. Bullen, Axel Nohturfft, Simon N. Waddington, Diego L. Medina, Juan P. Bolaños, Tristan R. McKay, NF-κB Activity Initiates Human ESC-Derived Neural Progenitor Cell Differentiation by Inducing a Metabolic Maturation Program, Stem Cell Reports, 10/6, 1766-1781

15. Julien Baruteau, Dany P. Perocheau, Joanna Hanley, Maëlle Lorvellec, Eridan Rocha-Ferreira, Rajvinder Karda, Joanne Ng, Natalie Suff, Juan Antinao Diaz, Ahad A. Rahim, Michael P. Hughes, Blerida Banushi, Helen Prunty, Mariya Hristova, Deborah A. Ridout, Alex Virasami, Simon Heales, Stewen J. Howe, Suzanne M. K. Buckley, Philippa B. Mills, Paul Gissen, Simon N. Waddington, 2018, Argininosuccinic aciduria fosters neuronal nitrosative stress reversed by Asl gene transfer, Nature Communications, 9/1, 3505

16. Seila Fernandez-Fernandez, Veronica Bobo-Jimenez, Raquel Requejo-Aguilar, Silvia Gonzalez-Fernandez, Monica Resch, Monica Carabias-Carrasco, Joaquim Ros, Angeles Almeida, Juan P. Bolaños, 2018, Hippocampal neurons require a large pool of glutathione to sustain dendrite integrity and cognitive function, Redox Biology, 19, 52-61

17. Michael Schlander, Søren Holm, Erik Nord, Jeff Richardson, Silvio Garattini, Peter Kolominsky-Rabas, Deborah Marshall, Ulf Persson, Maarten Postma, Steven Simoens, Oriol de Solà Morales, Keith Tolley, Mondher Toumi, Harry Telser, James R Bonham, Helmut Hintner, Anja Diem, Martin Laimer, Réjean Hébert, Nabarun Dasgupta, Carrie E. Pierce, Melissa Jordan, Barbara Bori, Mohanad Fors, Emilie Prazakova, Simon Day, Thomas J. Croce, Jonas Fransson, Philip Wood, Anne-Grethe Lauridsen, Joanne Higgs, Vesna Stojmirova Aleksovska, Christina Olsen, Ritchie Head, Antonio Asero, Vincenzo Papa, Christa van Kan, Loic Favennec, Silvana Venturella, Michela Salvador, Alan Krol, Stephanie J. Nielsen, Birthe B. Holm, Daniel Lewi, Patricia Durão, Heather Band, Andrea West, Marinda J. A. Hammann, Marije C. Effing-Boele, Hanka K. Dekker, Amy Hunter, Amy Simpson, Gumei Liu, Katherine Needleman, Debra Lewis, Gayatri Rao, Amy Simpson, Amy Hunter, Martin J. Whitaker, Raquel Castro, 2016, 8th European Conference on Rare Diseases & Orphan Products (ECRD 2016), Orphanet Journal of Rare Diseases, 11/S1, 1-9

18. Rajvinder Karda, Dany P. Perocheau, Natalie Suff, Joanne Ng, Juliette M. K. M. Delhove, Suzanne M. K. Buckley, Samantha Richards, John R. Counsell, Henrik Hagberg, Mark R. Johnson, Tristan R. McKay, Simon N. Waddington, 2017, Continual conscious bioluminescent imaging in freely moving somatotransgenic mice, Scientific Reports, 7/1, 6374

19. Juliette M. K. M. Delhove, Suzanne M. K. Buckley, Dany P. Perocheau, Rajvinder Karda, Patrick Arbuthnot, Neil C. Henderson, Simon N. Waddington, Tristan R. McKay, Longitudinal in vivo bioimaging of hepatocyte transcription factor activity following cholestatic liver injury in mice, Scientific Reports, 7/1, 41874

20. Julie Tordo, Claire O’Leary, André S L M Antunes, Nuria Palomar, Patrick Aldrin-Kirk, Mark Basche, Antonette Bennett, Zelpha D’Souza, Hélène Gleitz, Annie Godwin, Rebecca J Holley, Helen Parker, Ai Yin Liao, Paul Rouse, Amir Saam Youshani, Larbi Dridi, Carla Martins, Thierry Levade, Kevin B Stacey, Daniel M Davis, Adam Dyer, Nathalie Clément, Tomas Björklund, Robin R Ali, Mavis Agbandje-McKenna, Ahad A Rahim, Alexey Pshezhetsky, Simon N Waddington, R Michael Linden, Brian W Bigger, Els Henckaerts, 2018, A novel adeno-associated virus capsid with enhanced neurotropism corrects a lysosomal transmembrane enzyme deficiency, Brain, 141/7, 2014-2031

21. Michael P Hughes, Dave A Smith, Lauren Morris, Claire Fletcher, Alexandria Colaco, Mylene Huebecker, Julie Tordo, Nuria Palomar, Giulia Massaro, Els Henckaerts, Simon N Waddington, Frances M Platt, Ahad A Rahim, 2018, AAV9 intracerebroventricular gene therapy improves lifespan, locomotor function and pathology in a mouse model of Niemann–Pick type C1 disease, Human Molecular Genetics, 27/17, 3079-3098

22. Sophia-Martha kleine Holthaus, Joana Ribeiro, Laura Abelleira-Hervas, Rachael A. Pearson, Yanai Duran, Anastasios Georgiadis, Robert D. Sampson, Matteo Rizzi, Justin Hoke, Ryea Maswood, Selina Azam, Ulrich F.O. Luhmann, Alexander J. Smith, Sara E. Mole, Robin R. Ali, 2018, Prevention of Photoreceptor Cell Loss in a Cln6 Mouse Model of Batten Disease Requires CLN6 Gene Transfer to Bipolar Cells, Molecular Therapy, 26/5,1343-1353

23. Carlos Vicente-Gutierrez, Nicoló Bonora, Veronica Bobo-Jimenez, Daniel Jimenez-Blasco, Irene Lopez-Fabuel, Emilio Fernandez, Charlene Josephine, Gilles Bonvento, Jose A. Enriquez, Angeles Almeida, Juan P. Bolaños, 2019, Astrocytic mitochondrial ROS modulate brain metabolism and mouse behaviour, Nature Metabolism, 1/2, 201-211

24. Lisa von Kleist, Khandsuren Ariunbat, Ingke Braren, Tobias Stauber, Stephan Storch, Tatyana Danyukova, 2019, A newly generated neuronal cell model of CLN7 disease reveals aberrant lysosome motility and impaired cell survival, Molecular Genetics and Metabolism, 126/2, 196-205

25. Carolin Schmidtke, Stephan Tiede, Melanie Thelen, Reijo Käkelä, Sabrina Jabs, Georgia Makrypidi, Marc Sylvester, Michaela Schweizer, Ingke Braren, Nahal Brocke-Ahmadinejad, Susan L. Cotman, Angela Schulz, Volkmar Gieselmann, Thomas Braulke, 2019, Lysosomal proteome analysis reveals that CLN3-defective cells have multiple enzyme deficiencies associated with changes in intracellular trafficking, Journal of Biological Chemistry, 294/24, 9592-9604

26. Sophia-Martha kleine Holthaus, Saul Herranz-Martin, Giulia Massaro, Mikel Aristorena, Justin Hoke, Michael P Hughes, Ryea Maswood, Olha Semenyuk, Mark Basche, Amna Z Shah, Izabela P Klaska, Alexander J Smith, Sara E Mole, Ahad A Rahim, Robin R Ali, 2019, Neonatal brain-directed gene therapy rescues a mouse model of neurodegenerative CLN6 Batten disease, Human Molecular Genetics

27. Sara E Mole, Glenn Anderson, Heather A Band, Samuel F Berkovic, Jonathan D Cooper, Sophia-Martha Kleine Holthaus, Tristan R McKay, Diego L Medina, Ahad A Rahim, Angela Schulz, Alexander J Smith, 2019, Clinical challenges and future therapeutic approaches for neuronal ceroid lipofuscinosis, The Lancet Neurology, 18/1, 107-116

28. Sara E Mole, 2017, BATCure, Developing new therapies for Batten disease, Horizon2020, Impact, 2017/10, 37-39

29. Giulia Massaro, Citra N. Z. Mattar, Andrew M. S. Wong, Ernestas Sirka, Suzanne M. K. Buckley, Bronwen R. Herbert, Stefan Karlsson, Dany P. Perocheau, Derek Burke, Simon Heales, Angela Richard-Londt, Sebastian Brandner, Mylene Huebecker, David A. Priestman, Frances M. Platt, Kevin Mills, Arijit Biswas, Jonathan D. Cooper, Jerry K. Y. Chan, Seng H. Cheng, Simon N. Waddington, Ahad A. Rahim, 2018, Fetal gene therapy for neurodegenerative disease of infants, Nature Medicine, 24/9, 1317-1323

30. Jonathan Lambert, Steven Howe, Ahad Rahim, Derek Burke, Simon Heales, 2019, Inhibition of Mitochondrial Complex I Impairs Release of α-Galactosidase by Jurkat Cells, International Journal of Molecular Sciences, 20/18, 4349

31. Eridan Rocha-Ferreira, Laura Poupon, Aura Zelco, Anna-Lena Leverin, Syam Nair, Andrea Jonsdotter, Ylva Carlsson, Claire Thornton, Henrik Hagberg, Ahad A Rahim, 2018, Neuroprotective exendin-4 enhances hypothermia therapy in a model of hypoxic-ischaemic encephalopathy, Brain, 141/10, 2925-2942

32. F. Bellomo, D. L. Medina, E. De Leo, A. Panarella, F. Emma, 2017, High-content drug screening for rare diseases, Journal of Inherited Metabolic Disease, 40/4, 601-607

33. Yevgeniya Atiskova, Susanne Bartsch, Tatyana Danyukova, Elke Becker, Christian Hagel, Stephan Storch, Udo Bartsch, 2019, Mice deficient in the lysosomal enzyme palmitoyl-protein thioesterase 1 (PPT1) display a complex retinal phenotype, Scientific Reports, 9/1

34. Olga Burmistrova, Ana Olias-Arjona, Rebeca Lapresa, Daniel Jimenez-Blasco, Tatiana Eremeeva, Dmitry Shishov, Sergei Romanov, Kristina Zakurdaeva, Angeles Almeida, Peter O. Fedichev, Juan P. Bolaños, 2019, Targeting PFKFB3 alleviates cerebral ischemia-reperfusion injury in mice, Scientific Reports, 9/1

35. Emyr Lloyd-Evans, Helen Waller-Evans, 2019, Lysosomal Ca2+ Homeostasis and Signaling in Health and Disease, Cold Spring Harbor Perspectives in Biology, a035311