α-synuclein oligomers interact with ATP synthase and open the permeability transition pore in Parkinson’s disease
Ludtmann, Marthe H. R., Angelova, Plamena R., Horrocks, Mathew H., Choi, Minee L., Rodrigues, Margarida, Baev, Artyom Y., Berezhnov, Alexey V., Yao, Zhi, Little, Daniel, Banushi, Blerida, Al-Menhali, Afnan Saleh, Ranasinghe, Rohan T., Whiten, Daniel R., Yapom, Ratsuda, Dolt, Karamjit Singh, Devine, Michael J., Gissen, Paul, Kunath, Tilo, Jaganjac, Morana, Pavlov, Evgeny V., Klenerman, David, Abramov, Andrey Y., Gandhi, Sonia
Published in Nature communications (12.06.2018)
Published in Nature communications (12.06.2018)
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Journal Article
Alpha synuclein aggregation drives ferroptosis: an interplay of iron, calcium and lipid peroxidation
Angelova, Plamena R., Choi, Minee L., Berezhnov, Alexey V., Horrocks, Mathew H., Hughes, Craig D., De, Suman, Rodrigues, Margarida, Yapom, Ratsuda, Little, Daniel, Dolt, Karamjit S., Kunath, Tilo, Devine, Michael J., Gissen, Paul, Shchepinov, Mikhail S., Sylantyev, Sergiy, Pavlov, Evgeny V., Klenerman, David, Abramov, Andrey Y., Gandhi, Sonia
Published in Cell death and differentiation (01.10.2020)
Published in Cell death and differentiation (01.10.2020)
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Journal Article
Lamin and the heart
Captur, Gabriella, Arbustini, Eloisa, Bonne, Gisèle, Syrris, Petros, Mills, Kevin, Wahbi, Karim, Mohiddin, Saidi A, McKenna, William J, Pettit, Stephen, Ho, Carolyn Y, Muchir, Antoine, Gissen, Paul, Elliott, Perry M, Moon, James C
Published in Heart (British Cardiac Society) (01.03.2018)
Published in Heart (British Cardiac Society) (01.03.2018)
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Journal Article
Consensus clinical management guidelines for Niemann-Pick disease type C
Geberhiwot, Tarekegn, Moro, Alessandro, Dardis, Andrea, Ramaswami, Uma, Sirrs, Sandra, Marfa, Mercedes Pineda, Vanier, Marie T, Walterfang, Mark, Bolton, Shaun, Dawson, Charlotte, Héron, Bénédicte, Stampfer, Miriam, Imrie, Jackie, Hendriksz, Christian, Gissen, Paul, Crushell, Ellen, Coll, Maria J, Nadjar, Yann, Klünemann, Hans, Mengel, Eugen, Hrebicek, Martin, Jones, Simon A, Ory, Daniel, Bembi, Bruno, Patterson, Marc
Published in Orphanet journal of rare diseases (06.04.2018)
Published in Orphanet journal of rare diseases (06.04.2018)
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Journal Article
A retrograde approach for liver gene transfer
Brunetti-Pierri, Nicola, Gissen, Paul
Published in Molecular therapy. Methods & clinical development (08.12.2022)
Published in Molecular therapy. Methods & clinical development (08.12.2022)
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Journal Article
Clinical and Molecular Features of Early Infantile Niemann Pick Type C Disease
Seker Yilmaz, Berna, Baruteau, Julien, Rahim, Ahad A, Gissen, Paul
Published in International journal of molecular sciences (17.07.2020)
Published in International journal of molecular sciences (17.07.2020)
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Journal Article
Diagnostic tests for Niemann-Pick disease type C (NP-C): A critical review
Vanier, Marie T., Gissen, Paul, Bauer, Peter, Coll, Maria J., Burlina, Alberto, Hendriksz, Christian J., Latour, Philippe, Goizet, Cyril, Welford, Richard W.D., Marquardt, Thorsten, Kolb, Stefan A.
Published in Molecular genetics and metabolism (01.08.2016)
Published in Molecular genetics and metabolism (01.08.2016)
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Journal Article
Molecular architecture of the multifunctional collagen lysyl hydroxylase and glycosyltransferase LH3
Scietti, Luigi, Chiapparino, Antonella, De Giorgi, Francesca, Fumagalli, Marco, Khoriauli, Lela, Nergadze, Solomon, Basu, Shibom, Olieric, Vincent, Cucca, Lucia, Banushi, Blerida, Profumo, Antonella, Giulotto, Elena, Gissen, Paul, Forneris, Federico
Published in Nature communications (08.08.2018)
Published in Nature communications (08.08.2018)
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Journal Article
Exploring concurrent validity of the CLN2 Clinical Rating Scale: Comparison to PedsQL using cerliponase alfa clinical trial data
Specchio, Nicola, Gissen, Paul, de Los Reyes, Emily, Olaye, Andrew, Camp, Charlotte, Curteis, Tristan, Griffiths, Annabel, Butt, Thomas, Cohen-Pfeffer, Jessica, Slasor, Peter, Sisic, Zlatko, Jain, Mohit, Schulz, Angela
Published in PloS one (22.05.2024)
Published in PloS one (22.05.2024)
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Journal Article
Identification of novel bile acids as biomarkers for the early diagnosis of Niemann‐Pick C disease
Mazzacuva, Francesca, Mills, Philippa, Mills, Kevin, Camuzeaux, Stephane, Gissen, Paul, Nicoli, Elena‐Raluca, Wassif, Christopher, Vruchte, Danielle, Porter, Forbes D., Maekawa, Masamitsu, Mano, Nariyasu, Iida, Takashi, Platt, Frances, Clayton, Peter T.
Published in FEBS letters (01.06.2016)
Published in FEBS letters (01.06.2016)
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Journal Article
Reproducibility of Molecular Phenotypes after Long-Term Differentiation to Human iPSC-Derived Neurons: A Multi-Site Omics Study
Volpato, Viola, Smith, James, Sandor, Cynthia, Ried, Janina S., Baud, Anna, Handel, Adam, Newey, Sarah E., Wessely, Frank, Attar, Moustafa, Whiteley, Emma, Chintawar, Satyan, Verheyen, An, Barta, Thomas, Lako, Majlinda, Armstrong, Lyle, Muschet, Caroline, Artati, Anna, Cusulin, Carlo, Christensen, Klaus, Patsch, Christoph, Sharma, Eshita, Nicod, Jerome, Brownjohn, Philip, Stubbs, Victoria, Heywood, Wendy E., Gissen, Paul, De Filippis, Roberta, Janssen, Katharina, Reinhardt, Peter, Adamski, Jerzy, Royaux, Ines, Peeters, Pieter J., Terstappen, Georg C., Graf, Martin, Livesey, Frederick J., Akerman, Colin J., Mills, Kevin, Bowden, Rory, Nicholson, George, Webber, Caleb, Cader, M. Zameel, Lakics, Viktor
Published in Stem cell reports (09.10.2018)
Published in Stem cell reports (09.10.2018)
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Journal Article
Argininosuccinic aciduria: Recent pathophysiological insights and therapeutic prospects
Baruteau, Julien, Diez‐Fernandez, Carmen, Lerner, Shaul, Ranucci, Giusy, Gissen, Paul, Dionisi‐Vici, Carlo, Nagamani, Sandesh, Erez, Ayelet, Häberle, Johannes
Published in Journal of inherited metabolic disease (01.11.2019)
Published in Journal of inherited metabolic disease (01.11.2019)
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Journal Article
Optimization of Liver Decellularization Maintains Extracellular Matrix Micro-Architecture and Composition Predisposing to Effective Cell Seeding
Maghsoudlou, Panagiotis, Georgiades, Fanourios, Smith, Holly, Milan, Anna, Shangaris, Panicos, Urbani, Luca, Loukogeorgakis, Stavros P, Lombardi, Benedetta, Mazza, Giuseppe, Hagen, Charlotte, Sebire, Neil J, Turmaine, Mark, Eaton, Simon, Olivo, Alessandro, Godovac-Zimmermann, Jasminka, Pinzani, Massimo, Gissen, Paul, De Coppi, Paolo
Published in PloS one (09.05.2016)
Published in PloS one (09.05.2016)
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