Developing new therapies for Batten disease

Resultado final

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

Publicaciones

NCLs and ER: A stressful relationship

Autores: Davide Marotta, Elisa Tinelli, Sara E. Mole
Publicado en: Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, Edición 1863/6, 2017, Página(s) 1273-1281, ISSN 0925-4439
Editor: Elsevier BV
DOI: 10.1016/j.bbadis.2017.04.003

Current technical approaches to brain energy metabolism

Autores: 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
Publicado en: Glia, Edición 66/6, 2018, Página(s) 1138-1159, ISSN 0894-1491
Editor: John Wiley & Sons Inc.
DOI: 10.1002/glia.23248

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

Autores: Tatyana Danyukova, Khandsuren Ariunbat, Melanie Thelen, Nahal Brocke-Ahmadinejad, Sara E Mole, Stephan Storch
Publicado en: Human Molecular Genetics, Edición 27/10, 2018, Página(s) 1711-1722, ISSN 0964-6906
Editor: Oxford University Press
DOI: 10.1093/hmg/ddy076

Mutation of TBCK causes a rare recessive developmental disorder

Autores: Rita J. Guerreiro, Rachel Brown, Donnai Dian, Christian de Goede, Jose Bras, Sara E. Mole
Publicado en: Neurology Genetics, Edición 2/3, 2016, Página(s) e76, ISSN 2376-7839
Editor: 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

Autores: 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
Publicado en: Stem Cell Reports, Edición 10/6, 2018, Página(s) 1766-1781, ISSN 2213-6711
Editor: Cell Press
DOI: 10.1016/j.stemcr.2018.03.015

Argininosuccinic aciduria fosters neuronal nitrosative stress reversed by Asl gene transfer

Autores: 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
Publicado en: Nature Communications, Edición 9/1, 2018, ISSN 2041-1723
Editor: 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

Autores: Seila Fernandez-Fernandez, Veronica Bobo-Jimenez, Raquel Requejo-Aguilar, Silvia Gonzalez-Fernandez, Monica Resch, Monica Carabias-Carrasco, Joaquim Ros, Angeles Almeida, Juan P. Bolaños
Publicado en: Redox Biology, Edición 19, 2018, Página(s) 52-61, ISSN 2213-2317
Editor: Elsevier BV
DOI: 10.1016/j.redox.2018.08.003

Continual conscious bioluminescent imaging in freely moving somatotransgenic mice

Autores: 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
Publicado en: Scientific Reports, Edición 7/1, 2017, ISSN 2045-2322
Editor: 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

Autores: 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
Publicado en: Scientific Reports, Edición 7/1, 2017, ISSN 2045-2322
Editor: Nature Publishing Group
DOI: 10.1038/srep41874

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

Autores: 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
Publicado en: Brain, Edición 141/7, 2018, Página(s) 2014-2031, ISSN 0006-8950
Editor: 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

Autores: 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
Publicado en: Human Molecular Genetics, Edición 27/17, 2018, Página(s) 3079-3098, ISSN 0964-6906
Editor: 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

Autores: 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
Publicado en: Molecular Therapy, Edición 26/5, 2018, Página(s) 1343-1353, ISSN 1525-0016
Editor: Nature Publishing Group
DOI: 10.1016/j.ymthe.2018.02.027

Astrocytic mitochondrial ROS modulate brain metabolism and mouse behaviour

Autores: 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
Publicado en: Nature Metabolism, Edición 1/2, 2019, Página(s) 201-211, ISSN 2522-5812
Editor: 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

Autores: Lisa von Kleist, Khandsuren Ariunbat, Ingke Braren, Tobias Stauber, Stephan Storch, Tatyana Danyukova
Publicado en: Molecular Genetics and Metabolism, Edición 126/2, 2019, Página(s) 196-205, ISSN 1096-7192
Editor: 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

Autores: 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
Publicado en: Journal of Biological Chemistry, Edición 294/24, 2019, Página(s) 9592-9604, ISSN 0021-9258
Editor: American Society for Biochemistry and Molecular Biology Inc.
DOI: 10.1074/jbc.ra119.008852

Clinical challenges and future therapeutic approaches for neuronal ceroid lipofuscinosis

Autores: 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
Publicado en: The Lancet Neurology, Edición 18/1, 2019, Página(s) 107-116, ISSN 1474-4422
Editor: The Lancet Publishing Group
DOI: 10.1016/s1474-4422(18)30368-5

Fetal gene therapy for neurodegenerative disease of infants

Autores: 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
Publicado en: Nature Medicine, Edición 24/9, 2018, Página(s) 1317-1323, ISSN 1078-8956
Editor: Nature Publishing Group
DOI: 10.1038/s41591-018-0106-7

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

Autores: Jonathan Lambert, Steven Howe, Ahad Rahim, Derek Burke, Simon Heales
Publicado en: International Journal of Molecular Sciences, Edición 20/18, 2019, Página(s) 4349, ISSN 1422-0067
Editor: Multidisciplinary Digital Publishing Institute (MDPI)
DOI: 10.3390/ijms20184349

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

Autores: Eridan Rocha-Ferreira, Laura Poupon, Aura Zelco, Anna-Lena Leverin, Syam Nair, Andrea Jonsdotter, Ylva Carlsson, Claire Thornton, Henrik Hagberg, Ahad A Rahim
Publicado en: Brain, Edición 141/10, 2018, Página(s) 2925-2942, ISSN 0006-8950
Editor: Oxford University Press
DOI: 10.1093/brain/awy220

High-content drug screening for rare diseases

Autores: F. Bellomo, D. L. Medina, E. De Leo, A. Panarella, F. Emma
Publicado en: Journal of Inherited Metabolic Disease, Edición 40/4, 2017, Página(s) 601-607, ISSN 0141-8955
Editor: 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

Autores: Yevgeniya Atiskova, Susanne Bartsch, Tatyana Danyukova, Elke Becker, Christian Hagel, Stephan Storch, Udo Bartsch
Publicado en: Scientific Reports, Edición 9/1, 2019, ISSN 2045-2322
Editor: Nature Publishing Group
DOI: 10.1038/s41598-019-50726-8

Targeting PFKFB3 alleviates cerebral ischemia-reperfusion injury in mice

Autores: 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
Publicado en: Scientific Reports, Edición 9/1, 2019, ISSN 2045-2322
Editor: Nature Publishing Group
DOI: 10.1038/s41598-019-48196-z

Lysosomal Ca 2+ Homeostasis and Signaling in Health and Disease

Autores: Emyr Lloyd-Evans, Helen Waller-Evans
Publicado en: Cold Spring Harbor Perspectives in Biology, 2019, Página(s) a035311, ISSN 1943-0264
Editor: Cold Spring Harbor Laboratory Press
DOI: 10.1101/cshperspect.a035311

Developing new therapies for rare Batten disease

Autores: Maija Dambrova
Publicado en: Intrinsic Activity, Edición 5/Suppl. 2, 2017, Página(s) A1.8, ISSN 2309-8503
Editor: Austrian Pharmacological Society (APHAR)
DOI: 10.25006/ia.5.s2-a1.8

Current and Emerging Treatment Strategies for Neuronal Ceroid Lipofuscinoses

Autores: Alfried Kohlschütter, Angela Schulz, Udo Bartsch, Stephan Storch
Publicado en: CNS Drugs, Edición 33/4, 2019, Página(s) 315-325, ISSN 1172-7047
Editor: Adis International Ltd.
DOI: 10.1007/s40263-019-00620-8

Retinal Degeneration in Mice Deficient in the Lysosomal Membrane Protein CLN7

Autores: Wanda Jankowiak, Laura Brandenstein, Simon Dulz, Christian Hagel, Stephan Storch, Udo Bartsch
Publicado en: Investigative Opthalmology & Visual Science, Edición 57/11, 2016, Página(s) 4989, ISSN 1552-5783
Editor: 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

Autores: Laura Brandenstein, Michaela Schweizer, Jan Sedlacik, Jens Fiehler, Stephan Storch
Publicado en: Human Molecular Genetics, Edición 25/4, 2016, Página(s) 777-791, ISSN 0964-6906
Editor: Oxford University Press
DOI: 10.1093/hmg/ddv615

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

Autores: Irene Lopez-Fabuel, Lucia Martin-Martin, Monica Resch-Beusher, Garikoitz Azkona, Rosario Sanchez-Pernaute, Juan P. Bolaños
Publicado en: Neurochemistry International, 2017, ISSN 0197-0186
Editor: 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

Autores: Irene Lopez-Fabuel, Monica Resch-Beusher, Monica Carabias-Carrasco, Angeles Almeida, Juan P. Bolaños
Publicado en: Neurochemical Research, Edición 42/6, 2017, Página(s) 1676-1682, ISSN 0364-3190
Editor: Kluwer Academic/Plenum Publishers
DOI: 10.1007/s11064-017-2191-2

Mitochondrial control of cell bioenergetics in Parkinson’s disease

Autores: Raquel Requejo-Aguilar, Juan P. Bolaños
Publicado en: Free Radical Biology and Medicine, Edición 100, 2016, Página(s) 123-137, ISSN 0891-5849
Editor: Elsevier BV
DOI: 10.1016/j.freeradbiomed.2016.04.012

Bioenergetics and redox adaptations of astrocytes to neuronal activity

Autores: Juan P. Bolaños
Publicado en: Journal of Neurochemistry, Edición 139, 2016, Página(s) 115-125, ISSN 0022-3042
Editor: Blackwell Publishing Inc.
DOI: 10.1111/jnc.13486

NRF2 Orchestrates the Metabolic Shift during Induced Pluripotent Stem Cell Reprogramming

Autores: 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
Publicado en: Cell Reports, Edición 14/8, 2016, Página(s) 1883-1891, ISSN 2211-1247
Editor: Cell Press
DOI: 10.1016/j.celrep.2016.02.003

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

Autores: Emilio Fernandez, Juan P. Bolaños
Publicado en: Journal of Neurochemistry, Edición 139/5, 2016, Página(s) 689-690, ISSN 0022-3042
Editor: Blackwell Publishing Inc.
DOI: 10.1111/jnc.13862

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

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

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

Autores: 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
Publicado en: Orphanet Journal of Rare Diseases, Edición 11/S1, 2016, ISSN 1750-1172
Editor: BioMed Central
DOI: 10.1186/s13023-016-0515-y

BATCure, Developing new therapies for Batten disease, Horizon2020

Autores: Sara E Mole
Publicado en: Impact, Edición 2017/10, 2017, Página(s) 37-39, ISSN 2398-7073
Editor: Science Impact Ltd
DOI: 10.21820/23987073.2017.10.37

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

Autores: 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
Publicado en: 2019
Editor: biorxiv
DOI: 10.1101/673848

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