Targeted Therapies for Parkinson's Disease: From Genetics to the Clinic

por Sardi, S. Pablo, Cedarbaum, Jesse M., Brundin, Patrik
Publicado 2018

Sterol auto-oxidation adversely affects human motor neuron viability and is a neuropathological feature of amyotrophic lateral sclerosis

por Dodge, James C., Yu, Jinlong, Sardi, S. Pablo, Shihabuddin, Lamya S.
Publicado 2021

Murine Models of Lysosomal Storage Diseases Exhibit Differences in Brain Protein Aggregation and Neuroinflammation

por Clarke, Jennifer, Kayatekin, Can, Viel, Catherine, Shihabuddin, Lamya, Sardi, Sergio Pablo
Publicado 2021

Alpha-Synuclein Targeting Therapeutics for Parkinson's Disease and Related Synucleinopathies

por Menon, Sindhu, Armstrong, Sabrina, Hamzeh, Amir, Visanji, Naomi P., Sardi, Sergio Pablo, Tandon, Anurag
Publicado 2022

Dysregulation of Mdm2 and Mdm4 alternative splicing underlies motor neuron death in spinal muscular atrophy

por Van Alstyne, Meaghan, Simon, Christian M., Sardi, S. Pablo, Shihabuddin, Lamya S., Mentis, George Z., Pellizzoni, Livio
Publicado 2018

No evidence for substrate accumulation in Parkinson brains with GBA mutations

por Gegg, Matthew E., Sweet, Lindsay, Wang, Bing H., Shihabuddin, Lamya S., Sardi, Sergio Pablo, Schapira, Anthony H.V.
Publicado 2015

Loss of glucocerebrosidase 1 activity causes lysosomal dysfunction and α-synuclein aggregation

por Bae, Eun-Jin, Yang, Na Young, Lee, Cheolsoon, Lee, He-Jin, Kim, Seokjoong, Sardi, Sergio Pablo, Lee, Seung-Jae
Publicado 2015

Preclinical pharmacology of glucosylceramide synthase inhibitor venglustat in a GBA-related synucleinopathy model

por Viel, Catherine, Clarke, Jennifer, Kayatekin, Can, Richards, Amy M., Chiang, Ming Sum R., Park, Hyejung, Wang, Bing, Shihabuddin, Lamya S., Sardi, S. Pablo
Publicado 2021

Glucosylceramide synthase inhibition reduces ganglioside GM3 accumulation, alleviates amyloid neuropathology, and stabilizes remote contextual memory in a mouse model of Alzheimer’...

por Dodge, James C., Tamsett, Thomas J., Treleaven, Christopher M., Taksir, Tatyana V., Piepenhagen, Peter, Sardi, S. Pablo, Cheng, Seng H., Shihabuddin, Lamya S.
Publicado 2022

Glucocerebrosidase Deficiency in Drosophila Results in α-Synuclein-Independent Protein Aggregation and Neurodegeneration

por Davis, Marie Y., Trinh, Kien, Thomas, Ruth E., Yu, Selina, Germanos, Alexandre A., Whitley, Brittany N., Sardi, Sergio Pablo, Montine, Thomas J., Pallanck, Leo J.
Publicado 2016

Cerebrospinal fluid proteomics implicates the granin family in Parkinson’s disease

por 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
Publicado 2020

Accuracy of Rod Contouring to Desired Angles With and Without a Template: Implications for Achieving Desired Spinal Alignment and Outcomes

por Sardi, Juan Pablo, Ames, Christopher P., Coffey, Skye, Good, Christopher, Dahl, Benny, Kraemer, Paul, Gum, Jeffrey, Devito, Dennis, Brayda-Bruno, Marco, Lee, Robert, Bell, Christopher P., Bess, Shay, Smith, Justin S.
Publicado 2021

Glucocerebrosidase modulates cognitive and motor activities in murine models of Parkinson’s disease

por Rockenstein, Edward, Clarke, Jennifer, Viel, Catherine, Panarello, Nicholas, Treleaven, Christopher M., Kim, Changyoun, Spencer, Brian, Adame, Anthony, Park, Hyejung, Dodge, James C., Cheng, Seng H., Shihabuddin, Lamya S., Masliah, E., Sardi, S. Pablo
Publicado 2016

Viral alpha-synuclein knockdown prevents spreading synucleinopathy

por Menon, Sindhu, Kofoed, Rikke H, Nabbouh, Fadl, Xhima, Kristiana, Al-Fahoum, Yasmeen, Langman, Tammy, Mount, Howard T J, Shihabuddin, Lamya S, Sardi, S Pablo, Fraser, Paul E, Watts, Joel C, Aubert, Isabelle, Tandon, Anurag
Publicado 2021

Mitochondrial dysfunction and mitophagy defect triggered by heterozygous GBA mutations

por Li, Hongyu, Ham, Ahrom, Ma, Thong Chi, Kuo, Sheng-Han, Kanter, Ellen, Kim, Donghoon, Ko, Han Seok, Quan, Yi, Sardi, Sergio Pablo, Li, Aiqun, Arancio, Ottavio, Kang, Un Jung, Sulzer, David, Tang, Guomei
Publicado 2018

Glucosylceramide in cerebrospinal fluid of patients with GBA-associated and idiopathic Parkinson’s disease enrolled in PPMI

por Huh, Young Eun, Park, Hyejung, Chiang, Ming Sum Ruby, Tuncali, Idil, Liu, Ganqiang, Locascio, Joseph J., Shirvan, Julia, Hutten, Samantha J., Rotunno, Melissa S., Viel, Catherine, Shihabuddin, Lamya S., Wang, Bing, Sardi, Sergio Pablo, Scherzer, Clemens R.
Publicado 2021

Accelerating diagnosis of Parkinson’s disease through risk prediction

por Yuan, William, Beaulieu-Jones, Brett, Krolewski, Richard, Palmer, Nathan, Veyrat-Follet, Christine, Frau, Francesca, Cohen, Caroline, Bozzi, Sylvie, Cogswell, Meaghan, Kumar, Dinesh, Coulouvrat, Catherine, Leroy, Bruno, Fischer, Tanya Z., Sardi, S. Pablo, Chandross, Karen J., Rubin, Lee L., Wills, Anne-Marie, Kohane, Isaac, Lipnick, Scott L.
Publicado 2021

Longitudinal Measurements of Glucocerebrosidase activity in Parkinson’s patients

por Alcalay, Roy N., Wolf, Pavlina, Chiang, Ming Sum Ruby, Helesicova, Karolina, Zhang, Xiaokui Kate, Merchant, Kalpana, Hutten, Samantha J., Scherzer, Clemens, Caspell‐Garcia, Chelsea, Blauwendraat, Cornelis, Foroud, Tatiana, Nudelman, Kelly, Gan‐Or, Ziv, Simuni, Tanya, Chahine, Lana M., Levy, Oren, Zheng, Dandi, Li, Gen, Sardi, Sergio Pablo
Publicado 2020

ER Stress and Autophagic Perturbations Lead to Elevated Extracellular α-Synuclein in GBA-N370S Parkinson's iPSC-Derived Dopamine Neurons

por 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
Publicado 2016

Safety, Pharmacokinetics, and Pharmacodynamics of Oral Venglustat in Patients with Parkinson’s Disease and a GBA Mutation: Results from Part 1 of the Randomized, Double-Blinded, Pl...

por Peterschmitt, M. Judith, Saiki, Hidemoto, Hatano, Taku, Gasser, Thomas, Isaacson, Stuart H., Gaemers, Sebastiaan J.M., Minini, Pascal, Saubadu, Stéphane, Sharma, Jyoti, Walbillic, Samantha, Alcalay, Roy N., Cutter, Gary, Hattori, Nobutaka, Höglinger, Günter U., Marek, Kenneth, Schapira, Anthony H.V., Scherzer, Clemens R., Simuni, Tanya, Giladi, Nir, Sardi, Sergio Pablo, Fischer, Tanya Z.
Publicado 2022