Acid β-glucosidase mutants linked to gaucher disease, parkinson disease, and lewy body dementia alter α-synuclein processing
Cullen, Valerie, Sardi, S. Pablo, Ng, Juliana, Xu, You-Hai, Sun, Ying, Tomlinson, Julianna J., Kolodziej, Piotr, Kahn, Ilana, Saftig, Paul, Woulfe, John, Rochet, Jean-Christophe, Glicksman, Marcie A., Cheng, Seng H., Grabowski, Gregory A., Shihabuddin, Lamya S., Schlossmacher, Michael G.
Published in Annals of neurology (01.06.2011)
Published in Annals of neurology (01.06.2011)
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Cerebrospinal fluid proteomics implicates the granin family in Parkinson's disease
Rotunno, Melissa S, Lane, Monica, Zhang, Wenfei, Wolf, Pavlina, Oliva, Petra, Viel, Catherine, Wills, Anne-Marie, Alcalay, Roy N, Scherzer, Clemens R, Shihabuddin, Lamya S, Zhang, Kate, Sardi, S Pablo
Published in Scientific reports (12.02.2020)
Published in Scientific reports (12.02.2020)
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Neutral Lipid Cacostasis Contributes to Disease Pathogenesis in Amyotrophic Lateral Sclerosis
Dodge, James C, Jensen, Elizabeth H, Yu, Jinlong, Sardi, S Pablo, Bialas, Allison R, Taksir, Tatyana V, Bangari, Dinesh S, Shihabuddin, Lamya S
Published in The Journal of neuroscience (18.11.2020)
Published in The Journal of neuroscience (18.11.2020)
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Glucosylceramide synthase inhibition alleviates aberrations in synucleinopathy models
Sardi, S. Pablo, Viel, Catherine, Clarke, Jennifer, Treleaven, Christopher M., Richards, Amy M., Park, Hyejung, Olszewski, Maureen A., Dodge, James C., Marshall, John, Makino, Elina, Wang, Bing, Sidman, Richard L., Cheng, Seng H., Shihabuddin, Lamya S.
Published in Proceedings of the National Academy of Sciences - PNAS (07.03.2017)
Published in Proceedings of the National Academy of Sciences - PNAS (07.03.2017)
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iPSC-derived neurons from GBA1-associated Parkinson's disease patients show autophagic defects and impaired calcium homeostasis
Schöndorf, David C, Aureli, Massimo, McAllister, Fiona E, Hindley, Christopher J, Mayer, Florian, Schmid, Benjamin, Sardi, S Pablo, Valsecchi, Manuela, Hoffmann, Susanna, Schwarz, Lukas Kristoffer, Hedrich, Ulrike, Berg, Daniela, Shihabuddin, Lamya S, Hu, Jing, Pruszak, Jan, Gygi, Steven P, Sonnino, Sandro, Gasser, Thomas, Deleidi, Michela
Published in Nature communications (06.06.2014)
Published in Nature communications (06.06.2014)
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ER Stress and Autophagic Perturbations Lead to Elevated Extracellular α-Synuclein in GBA-N370S Parkinson's iPSC-Derived Dopamine Neurons
Fernandes, Hugo J.R., Hartfield, Elizabeth M., Christian, Helen C., Emmanoulidou, Evangelia, Zheng, Ying, Booth, Heather, Bogetofte, Helle, Lang, Charmaine, Ryan, Brent J., Sardi, S. Pablo, Badger, Jennifer, Vowles, Jane, Evetts, Samuel, Tofaris, George K., Vekrellis, Kostas, Talbot, Kevin, Hu, Michele T., James, William, Cowley, Sally A., Wade-Martins, Richard
Published in Stem cell reports (08.03.2016)
Published in Stem cell reports (08.03.2016)
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Safety and efficacy of venglustat in GBA1-associated Parkinson's disease: an international, multicentre, double-blind, randomised, placebo-controlled, phase 2 trial
Giladi, Nir, Alcalay, Roy N, Cutter, Gary, Gasser, Thomas, Gurevich, Tanya, Höglinger, Günter U, Marek, Kenneth, Pacchetti, Claudio, Schapira, Anthony H V, Scherzer, Clemens R, Simuni, Tanya, Minini, Pascal, Sardi, S Pablo, Peterschmitt, M Judith
Published in Lancet neurology (01.08.2023)
Published in Lancet neurology (01.08.2023)
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Preclinical pharmacology of glucosylceramide synthase inhibitor venglustat in a GBA-related synucleinopathy model
Viel, Catherine, Clarke, Jennifer, Kayatekin, Can, Richards, Amy M, Chiang, Ming Sum R, Park, Hyejung, Wang, Bing, Shihabuddin, Lamya S, Sardi, S Pablo
Published in Scientific reports (22.10.2021)
Published in Scientific reports (22.10.2021)
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Antisense oligonucleotides delivered to the mouse CNS ameliorate symptoms of severe spinal muscular atrophy
Passini, Marco A, Bu, Jie, Richards, Amy M, Kinnecom, Cathrine, Sardi, S Pablo, Stanek, Lisa M, Hua, Yimin, Rigo, Frank, Matson, John, Hung, Gene, Kaye, Edward M, Shihabuddin, Lamya S, Krainer, Adrian R, Bennett, C Frank, Cheng, Seng H
Published in Science translational medicine (02.03.2011)
Published in Science translational medicine (02.03.2011)
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Augmenting CNS glucocerebrosidase activity as a therapeutic strategy for parkinsonism and other Gaucher-related synucleinopathies
Sardi, S. Pablo, Clarke, Jennifer, Viel, Catherine, Chan, Monyrath, Tamsett, Thomas J., Treleaven, Christopher M., Bu, Jie, Sweet, Lindsay, Passini, Marco A., Dodge, James C., Yu, W. Haung, Sidman, Richard L., Cheng, Seng H., Shihabuddin, Lamya S.
Published in Proceedings of the National Academy of Sciences - PNAS (26.02.2013)
Published in Proceedings of the National Academy of Sciences - PNAS (26.02.2013)
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Open science in precision medicine for neurodegenerative diseases
Leonard, Hampton L, Nalls, Mike A, Day-Williams, Aaron, Esmaeeli, Sahar, Jarreau, Paige, Bandres-Ciga, Sara, Heutink, Peter, Sardi, S Pablo, Singleton, Andrew B
Published in Nature reviews. Drug discovery (01.04.2024)
Published in Nature reviews. Drug discovery (01.04.2024)
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Glycosphingolipids are modulators of disease pathogenesis in amyotrophic lateral sclerosis
Dodge, James C, Christopher M. Treleaven, Joshua Pacheco, Samantha Cooper, Channa Bao, Marissa Abraham, Mandy Cromwell, S. Pablo Sardi, Wei-Lien Chuang, Richard L. Sidman, Seng H. Cheng, Lamya S. Shihabuddin
Published in Proceedings of the National Academy of Sciences - PNAS (30.06.2015)
Published in Proceedings of the National Academy of Sciences - PNAS (30.06.2015)
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The Mutation Matters: CSF Profiles of GCase, Sphingolipids, α‐Synuclein in PDGBA
Lerche, Stefanie, Schulte, Claudia, Wurster, Isabel, Machetanz, Gerrit, Roeben, Benjamin, Zimmermann, Milan, Deuschle, Christian, Hauser, Ann‐Kathrin, Böhringer, Judith, Krägeloh‐Mann, Ingeborg, Waniek, Katharina, Lachmann, Ingolf, Petterson, Xuan‐Mai T., Chiang, Ruby, Park, Hyejung, Wang, Bing, Liepelt‐Scarfone, Inga, Maetzler, Walter, Galasko, Douglas, Scherzer, Clemens R., Gasser, Thomas, Mielke, Michelle M., Hutten, Samantha J., Mollenhauer, Brit, Sardi, S. Pablo, Berg, Daniela, Brockmann, Kathrin
Published in Movement disorders (01.05.2021)
Published in Movement disorders (01.05.2021)
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Venglustat in GBA1-related Parkinson's disease – Authors' reply
Sardi, S Pablo, Giladi, Nir, Alcalay, Roy N, Cuer, Gary, Gasser, Thomas, Gurevich, Tanya, Höglinger, Günter U, Marek, Kenneth, PaccheE, Claudio, Schapira, Anthony H V, Scherzer, Clemens R, Simuni, Tanya, Minini, Pascal, Peterschmi, M Judith
Published in Lancet neurology (01.02.2024)
Published in Lancet neurology (01.02.2024)
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CNS expression of glucocerebrosidase corrects α-synuclein pathology and memory in a mouse model of Gaucher-related synucleinopathy
Sardi, S. Pablo, Clarke, Jennifer, Kinnecom, Cathrine, Tamsett, Thomas J., Li, Lingyun, Stanek, Lisa M., Passini, Marco A., Grabowski, Gregory A., Schlossmacher, Michael G., Sidman, Richard L., Cheng, Seng H., Shihabuddin, Lamya S.
Published in Proceedings of the National Academy of Sciences - PNAS (19.07.2011)
Published in Proceedings of the National Academy of Sciences - PNAS (19.07.2011)
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Gaucher-related synucleinopathies: the examination of sporadic neurodegeneration from a rare (disease) angle
Sardi, S Pablo, Cheng, Seng H, Shihabuddin, Lamya S
Published in Progress in neurobiology (01.02.2015)
Published in Progress in neurobiology (01.02.2015)
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Insulin-like growth factor 2 (IGF2) protects against Huntington’s disease through the extracellular disposal of protein aggregates
García-Huerta, Paula, Troncoso-Escudero, Paulina, Wu, Di, Thiruvalluvan, Arun, Cisternas-Olmedo, Marisol, Henríquez, Daniel R., Plate, Lars, Chana-Cuevas, Pedro, Saquel, Cristian, Thielen, Peter, Longo, Kenneth A., Geddes, Brad J., Lederkremer, Gerardo Z., Sharma, Neeraj, Shenkman, Marina, Naphade, Swati, Sardi, S. Pablo, Spichiger, Carlos, Richter, Hans G., Court, Felipe A., Tshilenge, Kizito Tshitoko, Ellerby, Lisa M., Wiseman, R. Luke, Gonzalez-Billault, Christian, Bergink, Steven, Vidal, Rene L., Hetz, Claudio
Published in Acta neuropathologica (01.11.2020)
Published in Acta neuropathologica (01.11.2020)
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