Zobrazeno 1 - 10
of 67
pro vyhledávání: '"S Pablo Sardi"'
Autor:
James C. Dodge, Thomas J. Tamsett, Christopher M. Treleaven, Tatyana V. Taksir, Peter Piepenhagen, S. Pablo Sardi, Seng H. Cheng, Lamya S. Shihabuddin
Publikováno v:
Alzheimer’s Research & Therapy, Vol 14, Iss 1, Pp 1-12 (2022)
Abstract Background Gangliosides are highly enriched in the brain and are critical for its normal development and function. However, in some rare neurometabolic diseases, a deficiency in lysosomal ganglioside hydrolysis is pathogenic and leads to ear
Externí odkaz:
https://doaj.org/article/117f28947efd422dbf60d1918e6bc62d
Autor:
Catherine Viel, Jennifer Clarke, Can Kayatekin, Amy M. Richards, Ming Sum R. Chiang, Hyejung Park, Bing Wang, Lamya S. Shihabuddin, S. Pablo Sardi
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-11 (2021)
Abstract Mutations in GBA, the gene encoding the lysosomal enzyme glucocerebrosidase (GCase), represent the greatest genetic risk factor for developing synucleinopathies including Parkinson’s disease (PD). Additionally, PD patients harboring a muta
Externí odkaz:
https://doaj.org/article/c4a35b81ff05400cb0b27881077b5aa3
Autor:
William Yuan, Brett Beaulieu-Jones, Richard Krolewski, Nathan Palmer, Christine Veyrat-Follet, Francesca Frau, Caroline Cohen, Sylvie Bozzi, Meaghan Cogswell, Dinesh Kumar, Catherine Coulouvrat, Bruno Leroy, Tanya Z. Fischer, S. Pablo Sardi, Karen J. Chandross, Lee L. Rubin, Anne-Marie Wills, Isaac Kohane, Scott L. Lipnick
Publikováno v:
BMC Neurology, Vol 21, Iss 1, Pp 1-12 (2021)
Abstract Background Characterization of prediagnostic Parkinson’s Disease (PD) and early prediction of subsequent development are critical for preventive interventions, risk stratification and understanding of disease pathology. This study aims to
Externí odkaz:
https://doaj.org/article/9e6364d125584b15943a54481769b978
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-11 (2021)
Abstract Aberrant cholesterol homeostasis is implicated in the pathogenesis of amyotrophic lateral sclerosis (ALS), a fatal neuromuscular disease that is due to motor neuron (MN) death. Cellular toxicity from excess cholesterol is averted when it is
Externí odkaz:
https://doaj.org/article/a0dc1212040940e185686c83d7cb49b3
Autor:
Alexia Polissidis, Effrosyni Koronaiou, Georgia Nikolopoulou, Catherine Viel, Maria Nikatou, Marios Bogiongko, S. Pablo Sardi, Maria Xilouri, Kostas Vekrellis, Leonidas Stefanis
Publikováno v:
Neurobiology of Disease, Vol 163, Iss , Pp 105612- (2022)
Preclinical and clinical studies support a strong association between mutations in the GBA1 gene that encodes beta-glucocerebrosidase (GCase) (EC 3.2.1.45; glucosylceramidase beta) and Parkinson's disease (PD). Alpha-synuclein (AS), a key player in P
Externí odkaz:
https://doaj.org/article/b1a19e14f005431bace4f90d6c300bf5
Autor:
Kasey L. Jackson, Catherine Viel, Jennifer Clarke, Jie Bu, Monyrath Chan, Bing Wang, Lamya S. Shihabuddin, S. Pablo Sardi
Publikováno v:
Neurobiology of Disease, Vol 130, Iss , Pp 104513- (2019)
Pathological mutations in GBA, encoding lysosomal glucocerebrosidase (GCase), cause Gaucher disease (GD). GD is a multi-system disease with great phenotypic variation between individuals. It has been classified into type 1 with primarily peripheral i
Externí odkaz:
https://doaj.org/article/0769db607a724ad29cd26439e03603a1
Autor:
Hugo J.R. Fernandes, Elizabeth M. Hartfield, Helen C. Christian, Evangelia Emmanoulidou, Ying Zheng, Heather Booth, Helle Bogetofte, Charmaine Lang, Brent J. Ryan, S. Pablo Sardi, Jennifer Badger, Jane Vowles, Samuel Evetts, George K. Tofaris, Kostas Vekrellis, Kevin Talbot, Michele T. Hu, William James, Sally A. Cowley, Richard Wade-Martins
Publikováno v:
Stem Cell Reports, Vol 6, Iss 3, Pp 342-356 (2016)
Heterozygous mutations in the glucocerebrosidase gene (GBA) represent the strongest common genetic risk factor for Parkinson's disease (PD), the second most common neurodegenerative disorder. However, the molecular mechanisms underlying this associat
Externí odkaz:
https://doaj.org/article/20acb6da0a224454831f8f80ba1147cd
Autor:
Paulina Troncoso-Escudero, R. Luke Wiseman, Veronica Latapiat, Constanza Gonzalez, Paula Garcia-Huerta, José Cánovas, Julia M. D. Grandjean, Rene L. Vidal, Lars Plate, S. Pablo Sardi, Alexis Martinez, Marisol Cisternas, Hilal A. Lashuel, Valentina Castillo, Claudia A Rivera, Soledad Matus, Denisse Sepulveda, Carolina Jerez, Sirley Leal, Alberto J. M. Martin, Donzelli Sonia, Claudio Hetz
Publikováno v:
Mol Ther
Alteration to endoplasmic reticulum (ER) proteostasis is observed in a variety of neurodegenerative diseases associated with abnormal protein aggregation. Activation of the unfolded protein response (UPR) enables an adaptive reaction to recover ER pr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::abd0b8b8da6617c6b3e24e314098c6a3
https://doi.org/10.1016/j.ymthe.2021.01.033
https://doi.org/10.1016/j.ymthe.2021.01.033
Autor:
Christian Deuschle, Inga Liepelt-Scarfone, Gerrit Machetanz, Michelle M. Mielke, Ingolf Lachmann, Ruby Chiang, Claudia Schulte, Hyejung Park, Katharina Waniek, Walter Maetzler, Ingeborg Krägeloh-Mann, Stefanie Lerche, S. Pablo Sardi, Clemens R. Scherzer, Daniela Berg, Kathrin Brockmann, Xuan Mai Petterson, Isabel Wurster, Ann Kathrin Hauser, Douglas Galasko, Brit Mollenhauer, Milan Zimmermann, Benjamin Roeben, Judith Böhringer, Samantha J. Hutten, Thomas Gasser, Bing Wang
Publikováno v:
Movement disorders 36(5), 1216-1228 (2021). doi:10.1002/mds.28472
Background With pathway-specific trials in PD associated with variants in the glucocerebrosidase gene (PDGBA ) under way, we need markers that confirm the impact of genetic variants in patient-derived biofluids in order to allow patient stratificatio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::745d5d85c91896a1fbffc64c3f3a16c6
https://doi.org/10.1002/mds.28472
https://doi.org/10.1002/mds.28472
Autor:
Konstantin Senkevich, Cornelia E. Zorca, Aliza Dworkind, Uladzislau Rudakou, Emma Somerville, Eric Yu, Alexey Ermolaev, Daria Nikanorova, Jamil Ahmad, Jennifer A. Ruskey, Farnaz Asayesh, Dan Spiegelman, Stanley Fahn, Cheryl Waters, Oury Monchi, Yves Dauvilliers, Nicolas Dupré, Lior Greenbaum, Sharon Hassin-Baer, Francis P. Grenn, Ming Sum Ruby Chiang, S. Pablo Sardi, Benoît Vanderperre, Cornelis Blauwendraat, Jean-François Trempe, Edward A. Fon, Thomas M. Durcan, Roy N. Alcalay, Ziv Gan-Or
The association between glucocerebrosidase (GCase), encoded byGBA, and Parkinson’s disease highlights the role of the lysosome in Parkinson’s disease pathogenesis. Genome-wide association studies (GWAS) in Parkinson’s disease have revealed mult
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bbc0f27bcc030475c358a73142224378
https://doi.org/10.1101/2022.04.30.22274239
https://doi.org/10.1101/2022.04.30.22274239
