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Developing new therapies for Batten disease

Deliverables

Key resources translated into relevant major EU languages

Key resources translated into relevant major EU languages

Report of feedback analysis and its dissemination to key stakeholders

Report of feedback analysis and its dissemination to key stakeholders

Dissemination poster and leaflets

Dissemination poster and leaflets

Website pages, facebook & twitter feeds established for all stakeholders & wider public

Website pages, facebook & twitter feeds established for all stakeholders & wider public

Provide range of reports across different media for dissemination of the final results of the project

Provide range of reports across different media for dissemination of the final results of the project

Project kick-off meeting minutes

Project kick-off meeting minutes

First internal report on gender issues

First internal report on gender issues

Research key target groups required for clincal trial development

Research key target groups required for clincal trial development

Searching for OpenAIRE data...

Publications

NCLs and ER: A stressful relationship

Author(s): Davide Marotta, Elisa Tinelli, Sara E. Mole
Published in: Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, Issue 1863/6, 2017, Page(s) 1273-1281, ISSN 0925-4439
DOI: 10.1016/j.bbadis.2017.04.003

Current technical approaches to brain energy metabolism

Author(s): 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
Published in: Glia, Issue 66/6, 2018, Page(s) 1138-1159, ISSN 0894-1491
DOI: 10.1002/glia.23248

Loss of CLN7 results in depletion of soluble lysosomal proteins and impaired mTOR reactivation

Author(s): Tatyana Danyukova, Khandsuren Ariunbat, Melanie Thelen, Nahal Brocke-Ahmadinejad, Sara E Mole, Stephan Storch
Published in: Human Molecular Genetics, Issue 27/10, 2018, Page(s) 1711-1722, ISSN 0964-6906
DOI: 10.1093/hmg/ddy076

Mutation of TBCK causes a rare recessive developmental disorder

Author(s): Rita J. Guerreiro, Rachel Brown, Donnai Dian, Christian de Goede, Jose Bras, Sara E. Mole
Published in: Neurology Genetics, Issue 2/3, 2016, Page(s) e76, ISSN 2376-7839
DOI: 10.1212/NXG.0000000000000076

NF-κB Activity Initiates Human ESC-Derived Neural Progenitor Cell Differentiation by Inducing a Metabolic Maturation Program

Author(s): 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
Published in: Stem Cell Reports, Issue 10/6, 2018, Page(s) 1766-1781, ISSN 2213-6711
DOI: 10.1016/j.stemcr.2018.03.015

Argininosuccinic aciduria fosters neuronal nitrosative stress reversed by Asl gene transfer

Author(s): 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
Published in: Nature Communications, Issue 9/1, 2018, ISSN 2041-1723
DOI: 10.1038/s41467-018-05972-1

Hippocampal neurons require a large pool of glutathione to sustain dendrite integrity and cognitive function

Author(s): Seila Fernandez-Fernandez, Veronica Bobo-Jimenez, Raquel Requejo-Aguilar, Silvia Gonzalez-Fernandez, Monica Resch, Monica Carabias-Carrasco, Joaquim Ros, Angeles Almeida, Juan P. Bolaños
Published in: Redox Biology, Issue 19, 2018, Page(s) 52-61, ISSN 2213-2317
DOI: 10.1016/j.redox.2018.08.003

Continual conscious bioluminescent imaging in freely moving somatotransgenic mice

Author(s): 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
Published in: Scientific Reports, Issue 7/1, 2017, ISSN 2045-2322
DOI: 10.1038/s41598-017-06696-w

Longitudinal in vivo bioimaging of hepatocyte transcription factor activity following cholestatic liver injury in mice

Author(s): 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
Published in: Scientific Reports, Issue 7/1, 2017, ISSN 2045-2322
DOI: 10.1038/srep41874

A novel adeno-associated virus capsid with enhanced neurotropism corrects a lysosomal transmembrane enzyme deficiency

Author(s): 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-M
Published in: Brain, Issue 141/7, 2018, Page(s) 2014-2031, ISSN 0006-8950
DOI: 10.1093/brain/awy126

AAV9 intracerebroventricular gene therapy improves lifespan, locomotor function and pathology in a mouse model of Niemann–Pick type C1 disease

Author(s): 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
Published in: Human Molecular Genetics, Issue 27/17, 2018, Page(s) 3079-3098, ISSN 0964-6906
DOI: 10.1093/hmg/ddy212

Prevention of Photoreceptor Cell Loss in a Cln6 Mouse Model of Batten Disease Requires CLN6 Gene Transfer to Bipolar Cells

Author(s): 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
Published in: Molecular Therapy, Issue 26/5, 2018, Page(s) 1343-1353, ISSN 1525-0016
DOI: 10.1016/j.ymthe.2018.02.027

Astrocytic mitochondrial ROS modulate brain metabolism and mouse behaviour

Author(s): 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
Published in: Nature Metabolism, Issue 1/2, 2019, Page(s) 201-211, ISSN 2522-5812
DOI: 10.1038/s42255-018-0031-6

A newly generated neuronal cell model of CLN7 disease reveals aberrant lysosome motility and impaired cell survival

Author(s): Lisa von Kleist, Khandsuren Ariunbat, Ingke Braren, Tobias Stauber, Stephan Storch, Tatyana Danyukova
Published in: Molecular Genetics and Metabolism, Issue 126/2, 2019, Page(s) 196-205, ISSN 1096-7192
DOI: 10.1016/j.ymgme.2018.09.009

Lysosomal proteome analysis reveals that CLN3-defective cells have multiple enzyme deficiencies associated with changes in intracellular trafficking

Author(s): 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
Published in: Journal of Biological Chemistry, Issue 294/24, 2019, Page(s) 9592-9604, ISSN 0021-9258
DOI: 10.1074/jbc.ra119.008852

Clinical challenges and future therapeutic approaches for neuronal ceroid lipofuscinosis

Author(s): 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
Published in: The Lancet Neurology, Issue 18/1, 2019, Page(s) 107-116, ISSN 1474-4422
DOI: 10.1016/s1474-4422(18)30368-5

Fetal gene therapy for neurodegenerative disease of infants

Author(s): 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
Published in: Nature Medicine, Issue 24/9, 2018, Page(s) 1317-1323, ISSN 1078-8956
DOI: 10.1038/s41591-018-0106-7

Inhibition of Mitochondrial Complex I Impairs Release of α-Galactosidase by Jurkat Cells

Author(s): Jonathan Lambert, Steven Howe, Ahad Rahim, Derek Burke, Simon Heales
Published in: International Journal of Molecular Sciences, Issue 20/18, 2019, Page(s) 4349, ISSN 1422-0067
DOI: 10.3390/ijms20184349

Neuroprotective exendin-4 enhances hypothermia therapy in a model of hypoxic-ischaemic encephalopathy

Author(s): Eridan Rocha-Ferreira, Laura Poupon, Aura Zelco, Anna-Lena Leverin, Syam Nair, Andrea Jonsdotter, Ylva Carlsson, Claire Thornton, Henrik Hagberg, Ahad A Rahim
Published in: Brain, Issue 141/10, 2018, Page(s) 2925-2942, ISSN 0006-8950
DOI: 10.1093/brain/awy220

High-content drug screening for rare diseases

Author(s): F. Bellomo, D. L. Medina, E. De Leo, A. Panarella, F. Emma
Published in: Journal of Inherited Metabolic Disease, Issue 40/4, 2017, Page(s) 601-607, ISSN 0141-8955
DOI: 10.1007/s10545-017-0055-1

Mice deficient in the lysosomal enzyme palmitoyl-protein thioesterase 1 (PPT1) display a complex retinal phenotype

Author(s): Yevgeniya Atiskova, Susanne Bartsch, Tatyana Danyukova, Elke Becker, Christian Hagel, Stephan Storch, Udo Bartsch
Published in: Scientific Reports, Issue 9/1, 2019, ISSN 2045-2322
DOI: 10.1038/s41598-019-50726-8

Targeting PFKFB3 alleviates cerebral ischemia-reperfusion injury in mice

Author(s): 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
Published in: Scientific Reports, Issue 9/1, 2019, ISSN 2045-2322
DOI: 10.1038/s41598-019-48196-z

Lysosomal Ca 2+ Homeostasis and Signaling in Health and Disease

Author(s): Emyr Lloyd-Evans, Helen Waller-Evans
Published in: Cold Spring Harbor Perspectives in Biology, 2019, Page(s) a035311, ISSN 1943-0264
DOI: 10.1101/cshperspect.a035311

Developing new therapies for rare Batten disease

Author(s): Maija Dambrova
Published in: Intrinsic Activity, Issue 5/Suppl. 2, 2017, Page(s) A1.8, ISSN 2309-8503
DOI: 10.25006/ia.5.s2-a1.8

Current and Emerging Treatment Strategies for Neuronal Ceroid Lipofuscinoses

Author(s): Alfried Kohlschütter, Angela Schulz, Udo Bartsch, Stephan Storch
Published in: CNS Drugs, Issue 33/4, 2019, Page(s) 315-325, ISSN 1172-7047
DOI: 10.1007/s40263-019-00620-8

Retinal Degeneration in Mice Deficient in the Lysosomal Membrane Protein CLN7

Author(s): Wanda Jankowiak, Laura Brandenstein, Simon Dulz, Christian Hagel, Stephan Storch, Udo Bartsch
Published in: Investigative Opthalmology & Visual Science, Issue 57/11, 2016, Page(s) 4989, ISSN 1552-5783
DOI: 10.1167/iovs.16-20158

Lysosomal dysfunction and impaired autophagy in a novel mouse model deficient for the lysosomal membrane protein Cln7

Author(s): Laura Brandenstein, Michaela Schweizer, Jan Sedlacik, Jens Fiehler, Stephan Storch
Published in: Human Molecular Genetics, Issue 25/4, 2016, Page(s) 777-791, ISSN 0964-6906
DOI: 10.1093/hmg/ddv615

Mitochondrial respiratory chain disorganization in Parkinson's disease-relevant PINK1 and DJ1 mutants

Author(s): Irene Lopez-Fabuel, Lucia Martin-Martin, Monica Resch-Beusher, Garikoitz Azkona, Rosario Sanchez-Pernaute, Juan P. Bolaños
Published in: Neurochemistry International, 2017, ISSN 0197-0186
DOI: 10.1016/j.neuint.2017.03.023

Mitochondrial Complex I Activity is Conditioned by Supercomplex I–III2–IV Assembly in Brain Cells: Relevance for Parkinson’s Disease

Author(s): Irene Lopez-Fabuel, Monica Resch-Beusher, Monica Carabias-Carrasco, Angeles Almeida, Juan P. Bolaños
Published in: Neurochemical Research, Issue 42/6, 2017, Page(s) 1676-1682, ISSN 0364-3190
DOI: 10.1007/s11064-017-2191-2

Mitochondrial control of cell bioenergetics in Parkinson’s disease

Author(s): Raquel Requejo-Aguilar, Juan P. Bolaños
Published in: Free Radical Biology and Medicine, Issue 100, 2016, Page(s) 123-137, ISSN 0891-5849
DOI: 10.1016/j.freeradbiomed.2016.04.012

Bioenergetics and redox adaptations of astrocytes to neuronal activity

Author(s): Juan P. Bolaños
Published in: Journal of Neurochemistry, Issue 139, 2016, Page(s) 115-125, ISSN 0022-3042
DOI: 10.1111/jnc.13486

NRF2 Orchestrates the Metabolic Shift during Induced Pluripotent Stem Cell Reprogramming

Author(s): 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
Published in: Cell Reports, Issue 14/8, 2016, Page(s) 1883-1891, ISSN 2211-1247
DOI: 10.1016/j.celrep.2016.02.003

α-Ketoglutarate dehydrogenase complex moonlighting: ROS signalling added to the list

Author(s): Emilio Fernandez, Juan P. Bolaños
Published in: Journal of Neurochemistry, Issue 139/5, 2016, Page(s) 689-690, ISSN 0022-3042
DOI: 10.1111/jnc.13862

Complex I assembly into supercomplexes determines differential mitochondrial ROS production in neurons and astrocytes

Author(s): Irene Lopez-Fabuel, Juliette Le Douce, Angela Logan, Andrew M. James, Gilles Bonvento, Michael P. Murphy, Angeles Almeida, Juan P. Bolaños
Published in: Proceedings of the National Academy of Sciences, Issue 113/46, 2016, Page(s) 13063-13068, ISSN 0027-8424
DOI: 10.1073/pnas.1613701113

8th European Conference on Rare Diseases & Orphan Products (ECRD 2016)

Author(s): 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 Prazak
Published in: Orphanet Journal of Rare Diseases, Issue 11/S1, 2016, ISSN 1750-1172
DOI: 10.1186/s13023-016-0515-y

BATCure, Developing new therapies for Batten disease, Horizon2020

Author(s): Sara E Mole
Published in: Impact, Issue 2017/10, 2017, Page(s) 37-39, ISSN 2398-7073
DOI: 10.21820/23987073.2017.10.37

Neonatal brain-directed gene therapy rescues a mouse model of neurodegenerative CLN6 Batten disease

Author(s): kleine Holthaus SM, Herranz-Martin S, Massaro G, Aristorena M, Hoke J, Hughes MP, Maswood R, Semenyuk O, Basche M, Shah AZ, Klaska IP, Smith AJ, Mole SE, Rahim AA, Ali RR
Published in: 2019
DOI: 10.1101/673848