Developing new therapies for Batten disease

Livrables

Key resources translated into relevant major EU languages
Report of feedback analysis and its dissemination to key stakeholders
Dissemination poster and leaflets
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
Project kick-off meeting minutes
First internal report on gender issues
Research key target groups required for clincal trial development

Host NCL- 2018
Set up BATCure web site

Publications

NCLs and ER: A stressful relationship

Auteurs: Davide Marotta, Elisa Tinelli, Sara E. Mole
Publié dans: Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, Numéro 1863/6, 2017, Page(s) 1273-1281, ISSN 0925-4439
Éditeur: Elsevier BV
DOI: 10.1016/j.bbadis.2017.04.003

Current technical approaches to brain energy metabolism

Auteurs: 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
Publié dans: Glia, Numéro 66/6, 2018, Page(s) 1138-1159, ISSN 0894-1491
Éditeur: John Wiley & Sons Inc.
DOI: 10.1002/glia.23248

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

Auteurs: Tatyana Danyukova, Khandsuren Ariunbat, Melanie Thelen, Nahal Brocke-Ahmadinejad, Sara E Mole, Stephan Storch
Publié dans: Human Molecular Genetics, Numéro 27/10, 2018, Page(s) 1711-1722, ISSN 0964-6906
Éditeur: Oxford University Press
DOI: 10.1093/hmg/ddy076

Mutation of TBCK causes a rare recessive developmental disorder

Auteurs: Rita J. Guerreiro, Rachel Brown, Donnai Dian, Christian de Goede, Jose Bras, Sara E. Mole
Publié dans: Neurology Genetics, Numéro 2/3, 2016, Page(s) e76, ISSN 2376-7839
Éditeur: American Academy of Neurology
DOI: 10.1212/NXG.0000000000000076

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

Auteurs: 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
Publié dans: Stem Cell Reports, Numéro 10/6, 2018, Page(s) 1766-1781, ISSN 2213-6711
Éditeur: Cell Press
DOI: 10.1016/j.stemcr.2018.03.015

Argininosuccinic aciduria fosters neuronal nitrosative stress reversed by Asl gene transfer

Auteurs: 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
Publié dans: Nature Communications, Numéro 9/1, 2018, ISSN 2041-1723
Éditeur: Nature Publishing Group
DOI: 10.1038/s41467-018-05972-1

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

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

Continual conscious bioluminescent imaging in freely moving somatotransgenic mice

Auteurs: 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
Publié dans: Scientific Reports, Numéro 7/1, 2017, ISSN 2045-2322
Éditeur: Nature Publishing Group
DOI: 10.1038/s41598-017-06696-w

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

Auteurs: 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
Publié dans: Scientific Reports, Numéro 7/1, 2017, ISSN 2045-2322
Éditeur: Nature Publishing Group
DOI: 10.1038/srep41874

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

Auteurs: 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
Publié dans: Brain, Numéro 141/7, 2018, Page(s) 2014-2031, ISSN 0006-8950
Éditeur: Oxford University Press
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

Auteurs: 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
Publié dans: Human Molecular Genetics, Numéro 27/17, 2018, Page(s) 3079-3098, ISSN 0964-6906
Éditeur: Oxford University Press
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

Auteurs: 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
Publié dans: Molecular Therapy, Numéro 26/5, 2018, Page(s) 1343-1353, ISSN 1525-0016
Éditeur: Nature Publishing Group
DOI: 10.1016/j.ymthe.2018.02.027

Astrocytic mitochondrial ROS modulate brain metabolism and mouse behaviour

Auteurs: 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
Publié dans: Nature Metabolism, Numéro 1/2, 2019, Page(s) 201-211, ISSN 2522-5812
Éditeur: Springer Nature
DOI: 10.1038/s42255-018-0031-6

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

Auteurs: Lisa von Kleist, Khandsuren Ariunbat, Ingke Braren, Tobias Stauber, Stephan Storch, Tatyana Danyukova
Publié dans: Molecular Genetics and Metabolism, Numéro 126/2, 2019, Page(s) 196-205, ISSN 1096-7192
Éditeur: Academic Press
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

Auteurs: 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
Publié dans: Journal of Biological Chemistry, Numéro 294/24, 2019, Page(s) 9592-9604, ISSN 0021-9258
Éditeur: American Society for Biochemistry and Molecular Biology Inc.
DOI: 10.1074/jbc.ra119.008852

Clinical challenges and future therapeutic approaches for neuronal ceroid lipofuscinosis

Auteurs: 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
Publié dans: The Lancet Neurology, Numéro 18/1, 2019, Page(s) 107-116, ISSN 1474-4422
Éditeur: The Lancet Publishing Group
DOI: 10.1016/s1474-4422(18)30368-5

Fetal gene therapy for neurodegenerative disease of infants

Auteurs: 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
Publié dans: Nature Medicine, Numéro 24/9, 2018, Page(s) 1317-1323, ISSN 1078-8956
Éditeur: Nature Publishing Group
DOI: 10.1038/s41591-018-0106-7

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

Auteurs: Jonathan Lambert, Steven Howe, Ahad Rahim, Derek Burke, Simon Heales
Publié dans: International Journal of Molecular Sciences, Numéro 20/18, 2019, Page(s) 4349, ISSN 1422-0067
Éditeur: Multidisciplinary Digital Publishing Institute (MDPI)
DOI: 10.3390/ijms20184349

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

Auteurs: Eridan Rocha-Ferreira, Laura Poupon, Aura Zelco, Anna-Lena Leverin, Syam Nair, Andrea Jonsdotter, Ylva Carlsson, Claire Thornton, Henrik Hagberg, Ahad A Rahim
Publié dans: Brain, Numéro 141/10, 2018, Page(s) 2925-2942, ISSN 0006-8950
Éditeur: Oxford University Press
DOI: 10.1093/brain/awy220

High-content drug screening for rare diseases

Auteurs: F. Bellomo, D. L. Medina, E. De Leo, A. Panarella, F. Emma
Publié dans: Journal of Inherited Metabolic Disease, Numéro 40/4, 2017, Page(s) 601-607, ISSN 0141-8955
Éditeur: Kluwer Academic Publishers
DOI: 10.1007/s10545-017-0055-1

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

Auteurs: Yevgeniya Atiskova, Susanne Bartsch, Tatyana Danyukova, Elke Becker, Christian Hagel, Stephan Storch, Udo Bartsch
Publié dans: Scientific Reports, Numéro 9/1, 2019, ISSN 2045-2322
Éditeur: Nature Publishing Group
DOI: 10.1038/s41598-019-50726-8

Targeting PFKFB3 alleviates cerebral ischemia-reperfusion injury in mice

Auteurs: 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
Publié dans: Scientific Reports, Numéro 9/1, 2019, ISSN 2045-2322
Éditeur: Nature Publishing Group
DOI: 10.1038/s41598-019-48196-z

Lysosomal Ca 2+ Homeostasis and Signaling in Health and Disease

Auteurs: Emyr Lloyd-Evans, Helen Waller-Evans
Publié dans: Cold Spring Harbor Perspectives in Biology, 2019, Page(s) a035311, ISSN 1943-0264
Éditeur: Cold Spring Harbor Laboratory Press
DOI: 10.1101/cshperspect.a035311

Developing new therapies for rare Batten disease

Auteurs: Maija Dambrova
Publié dans: Intrinsic Activity, Numéro 5/Suppl. 2, 2017, Page(s) A1.8, ISSN 2309-8503
Éditeur: Austrian Pharmacological Society (APHAR)
DOI: 10.25006/ia.5.s2-a1.8

Current and Emerging Treatment Strategies for Neuronal Ceroid Lipofuscinoses

Auteurs: Alfried Kohlschütter, Angela Schulz, Udo Bartsch, Stephan Storch
Publié dans: CNS Drugs, Numéro 33/4, 2019, Page(s) 315-325, ISSN 1172-7047
Éditeur: Adis International Ltd.
DOI: 10.1007/s40263-019-00620-8

Retinal Degeneration in Mice Deficient in the Lysosomal Membrane Protein CLN7

Auteurs: Wanda Jankowiak, Laura Brandenstein, Simon Dulz, Christian Hagel, Stephan Storch, Udo Bartsch
Publié dans: Investigative Opthalmology & Visual Science, Numéro 57/11, 2016, Page(s) 4989, ISSN 1552-5783
Éditeur: ARVO Journal
DOI: 10.1167/iovs.16-20158

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

Auteurs: Laura Brandenstein, Michaela Schweizer, Jan Sedlacik, Jens Fiehler, Stephan Storch
Publié dans: Human Molecular Genetics, Numéro 25/4, 2016, Page(s) 777-791, ISSN 0964-6906
Éditeur: Oxford University Press
DOI: 10.1093/hmg/ddv615

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

Auteurs: Irene Lopez-Fabuel, Lucia Martin-Martin, Monica Resch-Beusher, Garikoitz Azkona, Rosario Sanchez-Pernaute, Juan P. Bolaños
Publié dans: Neurochemistry International, 2017, ISSN 0197-0186
Éditeur: Elsevier BV
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

Auteurs: Irene Lopez-Fabuel, Monica Resch-Beusher, Monica Carabias-Carrasco, Angeles Almeida, Juan P. Bolaños
Publié dans: Neurochemical Research, Numéro 42/6, 2017, Page(s) 1676-1682, ISSN 0364-3190
Éditeur: Kluwer Academic/Plenum Publishers
DOI: 10.1007/s11064-017-2191-2

Mitochondrial control of cell bioenergetics in Parkinson’s disease

Auteurs: Raquel Requejo-Aguilar, Juan P. Bolaños
Publié dans: Free Radical Biology and Medicine, Numéro 100, 2016, Page(s) 123-137, ISSN 0891-5849
Éditeur: Elsevier BV
DOI: 10.1016/j.freeradbiomed.2016.04.012

Bioenergetics and redox adaptations of astrocytes to neuronal activity

Auteurs: Juan P. Bolaños
Publié dans: Journal of Neurochemistry, Numéro 139, 2016, Page(s) 115-125, ISSN 0022-3042
Éditeur: Blackwell Publishing Inc.
DOI: 10.1111/jnc.13486

NRF2 Orchestrates the Metabolic Shift during Induced Pluripotent Stem Cell Reprogramming

Auteurs: 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
Publié dans: Cell Reports, Numéro 14/8, 2016, Page(s) 1883-1891, ISSN 2211-1247
Éditeur: Cell Press
DOI: 10.1016/j.celrep.2016.02.003

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

Auteurs: Emilio Fernandez, Juan P. Bolaños
Publié dans: Journal of Neurochemistry, Numéro 139/5, 2016, Page(s) 689-690, ISSN 0022-3042
Éditeur: Blackwell Publishing Inc.
DOI: 10.1111/jnc.13862

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

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

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

Auteurs: 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
Publié dans: Orphanet Journal of Rare Diseases, Numéro 11/S1, 2016, ISSN 1750-1172
Éditeur: BioMed Central
DOI: 10.1186/s13023-016-0515-y

BATCure, Developing new therapies for Batten disease, Horizon2020

Auteurs: Sara E Mole
Publié dans: Impact, Numéro 2017/10, 2017, Page(s) 37-39, ISSN 2398-7073
Éditeur: Science Impact Ltd
DOI: 10.21820/23987073.2017.10.37

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

Auteurs: 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
Publié dans: 2019
Éditeur: biorxiv
DOI: 10.1101/673848

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