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Pablo Sardi
Pablo Sardi
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Bestätigte E-Mail-Adresse bei genzyme.com
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Dopamine oxidation mediates mitochondrial and lysosomal dysfunction in Parkinson’s disease
LF Burbulla, P Song, JR Mazzulli, E Zampese, YC Wong, S Jeon, ...
Science 357 (6357), 1255-1261, 2017
7232017
Antisense oligonucleotides delivered to the mouse CNS ameliorate symptoms of severe spinal muscular atrophy
MA Passini, J Bu, AM Richards, C Kinnecom, SP Sardi, LM Stanek, Y Hua, ...
Science translational medicine 3 (72), 72ra18-72ra18, 2011
5602011
iPSC-derived neurons from GBA1-associated Parkinson’s disease patients show autophagic defects and impaired calcium homeostasis
DC Schöndorf, M Aureli, FE McAllister, CJ Hindley, F Mayer, B Schmid, ...
Nature communications 5 (1), 4028, 2014
5362014
Presenilin-dependent ErbB4 nuclear signaling regulates the timing of astrogenesis in the developing brain
SP Sardi, J Murtie, S Koirala, BA Patten, G Corfas
Cell 127 (1), 185-197, 2006
3892006
The Parkinson's progression markers initiative (PPMI)–establishing a PD biomarker cohort
K Marek, S Chowdhury, A Siderowf, S Lasch, CS Coffey, ...
Annals of clinical and translational neurology 5 (12), 1460-1477, 2018
3742018
Acid β‐glucosidase mutants linked to Gaucher disease, Parkinson disease, and Lewy body dementia alter α‐synuclein processing
V Cullen, SP Sardi, J Ng, YH Xu, Y Sun, JJ Tomlinson, P Kolodziej, I Kahn, ...
Annals of neurology 69 (6), 940-953, 2011
3542011
ER stress and autophagic perturbations lead to elevated extracellular α-synuclein in GBA-N370S Parkinson's iPSC-derived dopamine neurons
HJR Fernandes, EM Hartfield, HC Christian, E Emmanoulidou, Y Zheng, ...
Stem cell reports 6 (3), 342-356, 2016
3522016
CNS-targeted gene therapy improves survival and motor function in a mouse model of spinal muscular atrophy
MA Passini, J Bu, EM Roskelley, AM Richards, SP Sardi, CR O’Riordan, ...
The Journal of clinical investigation 120 (4), 1253-1264, 2010
3432010
CNS expression of glucocerebrosidase corrects α-synuclein pathology and memory in a mouse model of Gaucher-related synucleinopathy
SP Sardi, J Clarke, C Kinnecom, TJ Tamsett, L Li, LM Stanek, MA Passini, ...
Proceedings of the National Academy of Sciences 108 (29), 12101-12106, 2011
3392011
Loss of erbB signaling in oligodendrocytes alters myelin and dopaminergic function, a potential mechanism for neuropsychiatric disorders
K Roy, JC Murtie, BF El-Khodor, N Edgar, SP Sardi, BM Hooks, ...
Proceedings of the National Academy of Sciences 104 (19), 8131-8136, 2007
3392007
Augmenting CNS glucocerebrosidase activity as a therapeutic strategy for parkinsonism and other Gaucher-related synucleinopathies
SP Sardi, J Clarke, C Viel, M Chan, TJ Tamsett, CM Treleaven, J Bu, ...
Proceedings of the National Academy of Sciences 110 (9), 3537-3542, 2013
2842013
iPSC-derived dopamine neurons reveal differences between monozygotic twins discordant for Parkinson’s disease
CM Woodard, BA Campos, SH Kuo, MJ Nirenberg, MW Nestor, M Zimmer, ...
Cell reports 9 (4), 1173-1182, 2014
2572014
Revisiting protein aggregation as pathogenic in sporadic Parkinson and Alzheimer diseases
AJ Espay, JA Vizcarra, L Marsili, AE Lang, DK Simon, A Merola, ...
Neurology 92 (7), 329-337, 2019
2072019
Glucocerebrosidase depletion enhances cell-to-cell transmission of α-synuclein
EJ Bae, NY Yang, M Song, CS Lee, JS Lee, BC Jung, HJ Lee, S Kim, ...
Nature communications 5 (1), 4755, 2014
2002014
Mitochondrial dysfunction and mitophagy defect triggered by heterozygous GBA mutations
H Li, A Ham, TC Ma, SH Kuo, E Kanter, D Kim, HS Ko, Y Quan, SP Sardi, ...
Autophagy 15 (1), 113-130, 2019
1932019
Glucosylceramide synthase inhibition alleviates aberrations in synucleinopathy models
SP Sardi, C Viel, J Clarke, CM Treleaven, AM Richards, H Park, ...
Proceedings of the National Academy of Sciences 114 (10), 2699-2704, 2017
1852017
Silencing mutant huntingtin by adeno-associated virus-mediated RNA interference ameliorates disease manifestations in the YAC128 mouse model of Huntington's disease
LM Stanek, SP Sardi, B Mastis, AR Richards, CM Treleaven, T Taksir, ...
Human gene therapy 25 (5), 461-474, 2014
1832014
Targeted therapies for Parkinson's disease: from genetics to the clinic
SP Sardi, JM Cedarbaum, P Brundin
Movement Disorders 33 (5), 684-696, 2018
1692018
Longitudinal change of clinical and biological measures in early Parkinson's disease: Parkinson's progression markers initiative cohort
T Simuni, A Siderowf, S Lasch, CS Coffey, C Caspell‐Garcia, D Jennings, ...
Movement Disorders 33 (5), 771-782, 2018
1512018
SMN regulates axonal local translation via miR-183/mTOR pathway
MJ Kye, ED Niederst, MH Wertz, ICG Gonçalves, B Akten, KZ Dover, ...
Human molecular genetics 23 (23), 6318-6331, 2014
1462014
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