Gain of toxic function by long-term AAV9-mediated SMN overexpression in the sensorimotor circuit
Van Alstyne, Meaghan, Tattoli, Ivan, Delestrée, Nicolas, Recinos, Yocelyn, Workman, Eileen, Shihabuddin, Lamya S., Zhang, Chaolin, Mentis, George Z., Pellizzoni, Livio
Published in Nature neuroscience (01.07.2021)
Published in Nature neuroscience (01.07.2021)
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Journal Article
Sustained Therapeutic Reversal of Huntington's Disease by Transient Repression of Huntingtin Synthesis
Kordasiewicz, Holly B., Stanek, Lisa M., Wancewicz, Edward V., Mazur, Curt, McAlonis, Melissa M., Pytel, Kimberly A., Artates, Jonathan W., Weiss, Andreas, Cheng, Seng H., Shihabuddin, Lamya S., Hung, Gene, Bennett, C. Frank, Cleveland, Don W.
Published in Neuron (Cambridge, Mass.) (21.06.2012)
Published in Neuron (Cambridge, Mass.) (21.06.2012)
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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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Journal Article
No evidence for substrate accumulation in Parkinson brains with GBA mutations
Gegg, Matthew E., Sweet, Lindsay, Wang, Bing H., Shihabuddin, Lamya S., Sardi, Sergio Pablo, Schapira, Anthony H.V.
Published in Movement disorders (01.07.2015)
Published in Movement disorders (01.07.2015)
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Journal Article
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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Journal Article
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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Journal Article
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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Journal Article
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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Journal Article
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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Journal Article
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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Journal Article
New Frontiers in Parkinson's Disease: From Genetics to the Clinic
Shihabuddin, Lamya S, Brundin, Patrik, Greenamyre, J Timothy, Stephenson, Diane, Sardi, S Pablo
Published in The Journal of neuroscience (31.10.2018)
Published in The Journal of neuroscience (31.10.2018)
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Journal Article
Extensive Transduction and Enhanced Spread of a Modified AAV2 Capsid in the Non-human Primate CNS
Naidoo, Jerusha, Stanek, Lisa M., Ohno, Kousaku, Trewman, Savanah, Samaranch, Lluis, Hadaczek, Piotr, O’Riordan, Catherine, Sullivan, Jennifer, San Sebastian, Waldy, Bringas, John R., Snieckus, Christopher, Mahmoodi, Amin, Mahmoodi, Amir, Forsayeth, John, Bankiewicz, Krystof S., Shihabuddin, Lamya S.
Published in Molecular therapy (03.10.2018)
Published in Molecular therapy (03.10.2018)
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Journal Article
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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Journal Article
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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Journal Article
Silencing mutant huntingtin by adeno-associated virus-mediated RNA interference ameliorates disease manifestations in the YAC128 mouse model of Huntington's disease
Stanek, Lisa M, Sardi, Sergio P, Mastis, Bryan, Richards, Amy R, Treleaven, Christopher M, Taksir, Tatyana, Misra, Kuma, Cheng, Seng H, Shihabuddin, Lamya S
Published in Human gene therapy (01.05.2014)
Published in Human gene therapy (01.05.2014)
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