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454 results on '"Goldwurm, Stefano"'

1. Genomewide Association Studies of LRRK2 Modifiers of Parkinson's Disease

Author

Lai, Dongbing, Alipanahi, Babak, Fontanillas, Pierre, Schwantes‐An, Tae‐Hwi, Aasly, Jan, Alcalay, Roy N, Beecham, Gary W, Berg, Daniela, Bressman, Susan, Brice, Alexis, Brockman, Kathrin, Clark, Lorraine, Cookson, Mark, Das, Sayantan, Van Deerlin, Vivianna, Follett, Jordan, Farrer, Matthew J, Trinh, Joanne, Gasser, Thomas, Goldwurm, Stefano, Gustavsson, Emil, Klein, Christine, Lang, Anthony E, Langston, J William, Latourelle, Jeanne, Lynch, Timothy, Marder, Karen, Marras, Connie, Martin, Eden R, McLean, Cory Y, Mejia‐Santana, Helen, Molho, Eric, Myers, Richard H, Nuytemans, Karen, Ozelius, Laurie, Payami, Haydeh, Raymond, Deborah, Rogaeva, Ekaterina, Rogers, Michael P, Ross, Owen A, Samii, Ali, Saunders‐Pullman, Rachel, Schüle, Birgitt, Schulte, Claudia, Scott, William K, Tanner, Caroline, Tolosa, Eduardo, Tomkins, James E, Vilas, Dolores, Trojanowski, John Q, Team, The 23andMe Research, Uitti, Ryan, Vance, Jeffery M, Visanji, Naomi P, Wszolek, Zbigniew K, Zabetian, Cyrus P, Mirelman, Anat, Giladi, Nir, Urtreger, Avi Orr, Cannon, Paul, Fiske, Brian, and Foroud, Tatiana

Subjects
Biomedical and Clinical Sciences, Neurosciences, Clinical Sciences, Aging, Genetics, Brain Disorders, Prevention, Parkinson's Disease, Neurodegenerative, Human Genome, Aetiology, 2.1 Biological and endogenous factors, Neurological, Aged, Female, Genetic Predisposition to Disease, Genome-Wide Association Study, Genotype, Humans, Leucine-Rich Repeat Serine-Threonine Protein Kinase-2, Male, Middle Aged, Mutation, Parkinson Disease, Penetrance, 23andMe Research Team, Neurology & Neurosurgery, Clinical sciences
Abstract

ObjectiveThe aim of this study was to search for genes/variants that modify the effect of LRRK2 mutations in terms of penetrance and age-at-onset of Parkinson's disease.MethodsWe performed the first genomewide association study of penetrance and age-at-onset of Parkinson's disease in LRRK2 mutation carriers (776 cases and 1,103 non-cases at their last evaluation). Cox proportional hazard models and linear mixed models were used to identify modifiers of penetrance and age-at-onset of LRRK2 mutations, respectively. We also investigated whether a polygenic risk score derived from a published genomewide association study of Parkinson's disease was able to explain variability in penetrance and age-at-onset in LRRK2 mutation carriers.ResultsA variant located in the intronic region of CORO1C on chromosome 12 (rs77395454; p value = 2.5E-08, beta = 1.27, SE = 0.23, risk allele: C) met genomewide significance for the penetrance model. Co-immunoprecipitation analyses of LRRK2 and CORO1C supported an interaction between these 2 proteins. A region on chromosome 3, within a previously reported linkage peak for Parkinson's disease susceptibility, showed suggestive associations in both models (penetrance top variant: p value = 1.1E-07; age-at-onset top variant: p value = 9.3E-07). A polygenic risk score derived from publicly available Parkinson's disease summary statistics was a significant predictor of penetrance, but not of age-at-onset.InterpretationThis study suggests that variants within or near CORO1C may modify the penetrance of LRRK2 mutations. In addition, common Parkinson's disease associated variants collectively increase the penetrance of LRRK2 mutations. ANN NEUROL 2021;90:82-94.

Published
2021

2. Nonsteroidal Anti-inflammatory Use and LRRK2 Parkinson's Disease Penetrance.

Author

San Luciano, Marta, Tanner, Caroline M, Meng, Cheryl, Marras, Connie, Goldman, Samuel M, Lang, Anthony E, Tolosa, Eduardo, Schüle, Birgitt, Langston, J William, Brice, Alexis, Corvol, Jean-Christophe, Goldwurm, Stefano, Klein, Christine, Brockman, Simone, Berg, Daniela, Brockmann, Kathrin, Ferreira, Joachim J, Tazir, Meriem, Mellick, George D, Sue, Carolyn M, Hasegawa, Kazuko, Tan, Eng King, Bressman, Susan, Saunders-Pullman, Rachel, and Michael J. Fox Foundation LRRK2 Cohort Consortium

Subjects
Michael J. Fox Foundation LRRK2 Cohort Consortium, Humans, Parkinson Disease, Genetic Predisposition to Disease, Anti-Inflammatory Agents, Non-Steroidal, Penetrance, Mutation, Leucine-Rich Repeat Serine-Threonine Protein Kinase-2, Neurodegenerative, Neurosciences, Parkinson's Disease, Clinical Research, Prevention, Aging, Brain Disorders, Aetiology, 2.1 Biological and endogenous factors, Neurological, Clinical Sciences, Human Movement and Sports Sciences, Neurology & Neurosurgery
Abstract

BackgroundThe penetrance of leucine rich repeat kinase 2 (LRRK2) mutations is incomplete and may be influenced by environmental and/or other genetic factors. Nonsteroidal anti-inflammatory drugs (NSAIDs) are known to reduce inflammation and may lower Parkinson's disease (PD) risk, but their role in LRRK2-associated PD is unknown.ObjectivesThe objective of this study is to evaluate the association of regular NSAID use and LRRK2-associated PD.MethodsSymptomatic ("LRRK2-PD") and asymptomatic ("LRRK2-non-PD") participants with LRRK2 G2019S, R1441X, or I2020T variants (definitely pathogenic variant carriers) or G2385R or R1628P variants (risk variant carriers) from 2 international cohorts provided information on regular ibuprofen and/or aspirin use (≥2 pills/week for ≥6 months) prior to the index date (diagnosis date for PD, interview date for non-PD). Multivariate logistic regression was used to evaluate the relationship between regular NSAID use and PD for any NSAID, separately for ibuprofen and aspirin in all carriers and separately in pathogenic and risk variant groups.ResultsA total of 259 LRRK2-PD and 318 LRRK2-non-PD participants were enrolled. Regular NSAID use was associated with reduced odds of PD in the overall cohort (odds ratio [OR], 0.34; 95% confidence interval [CI], 0.21-0.57) and in both pathogenic and risk variant carriers (ORPathogenic , 0.38; 95% CI, 0.21-0.67 and ORRiskVariant , 0.19; 95% CI, 0.04-0.99). Similar associations were observed for ibuprofen and aspirin separately (ORIbuprofen , 0.19; 95% CI, 0.07-0.50 and ORAspirin , 0.51; 95% CI, 0.28-0.91).ConclusionsRegular NSAID use may be associated with reduced penetrance in LRRK2-associated PD. The LRRK2 protein is involved in inflammatory pathways and appears to be modulated by regular anti-inflammatory use. Longitudinal observational and interventional studies of NSAID exposure and LRRK2-PD are needed to confirm this association. © 2020 International Parkinson and Movement Disorder Society.

Published
2020

3. A genome-wide association study in multiple system atrophy

Author

Sailer, Anna, Scholz, Sonja W, Nalls, Michael A, Schulte, Claudia, Federoff, Monica, Price, T Ryan, Lees, Andrew, Ross, Owen A, Dickson, Dennis W, Mok, Kin, Mencacci, Niccolo E, Schottlaender, Lucia, Chelban, Viorica, Ling, Helen, O'Sullivan, Sean S, Wood, Nicholas W, Traynor, Bryan J, Ferrucci, Luigi, Federoff, Howard J, Mhyre, Timothy R, Morris, Huw R, Deuschl, Günther, Quinn, Niall, Widner, Hakan, Albanese, Alberto, Infante, Jon, Bhatia, Kailash P, Poewe, Werner, Oertel, Wolfgang, Höglinger, Günter U, Wüllner, Ullrich, Goldwurm, Stefano, Pellecchia, Maria Teresa, Ferreira, Joaquim, Tolosa, Eduardo, Bloem, Bastiaan R, Rascol, Olivier, Meissner, Wassilios G, Hardy, John A, Revesz, Tamas, Holton, Janice L, Gasser, Thomas, Wenning, Gregor K, Singleton, Andrew B, Houlden, Henry, Calandra-Buonaura, Giovanna, Capellari, Sabina, and Cortelli, Pietro

Subjects
Biomedical and Clinical Sciences, Neurosciences, Clinical Sciences, Human Genome, Genetics, 2.1 Biological and endogenous factors, Aetiology, Alkyl and Aryl Transferases, Brain, Cohort Studies, Europe, Genetic Loci, Genome-Wide Association Study, Genotyping Techniques, Humans, Multiple System Atrophy, Polymorphism, Single Nucleotide, RNA, Messenger, United States, Whites, alpha-Synuclein, European Multiple System Atrophy Study Group and the UK Multiple System Atrophy Study Group, White People, Cognitive Sciences, Neurology & Neurosurgery, Clinical sciences
Abstract

ObjectiveTo identify genetic variants that play a role in the pathogenesis of multiple system atrophy (MSA), we undertook a genome-wide association study (GWAS).MethodsWe performed a GWAS with >5 million genotyped and imputed single nucleotide polymorphisms (SNPs) in 918 patients with MSA of European ancestry and 3,864 controls. MSA cases were collected from North American and European centers, one third of which were neuropathologically confirmed.ResultsWe found no significant loci after stringent multiple testing correction. A number of regions emerged as potentially interesting for follow-up at p < 1 × 10-6, including SNPs in the genes FBXO47, ELOVL7, EDN1, and MAPT. Contrary to previous reports, we found no association of the genes SNCA and COQ2 with MSA.ConclusionsWe present a GWAS in MSA. We have identified several potentially interesting gene loci, including the MAPT locus, whose significance will have to be evaluated in a larger sample set. Common genetic variation in SNCA and COQ2 does not seem to be associated with MSA. In the future, additional samples of well-characterized patients with MSA will need to be collected to perform a larger MSA GWAS, but this initial study forms the basis for these next steps.

Published
2016

4. Parkin absence accelerates microtubule aging in dopaminergic neurons

Author

Cartelli, Daniele, Amadeo, Alida, Calogero, Alessandra Maria, Casagrande, Francesca Vittoria Marialuisa, De Gregorio, Carmelita, Gioria, Mariarosa, Kuzumaki, Naoko, Costa, Ilaria, Sassone, Jenny, Ciammola, Andrea, Hattori, Nobutaka, Okano, Hideyuki, Goldwurm, Stefano, Roybon, Laurent, Pezzoli, Gianni, and Cappelletti, Graziella

Published
2018
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5. Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy

Author

Höglinger, Günter U, Melhem, Nadine M, Dickson, Dennis W, Sleiman, Patrick MA, Wang, Li-San, Klei, Lambertus, Rademakers, Rosa, de Silva, Rohan, Litvan, Irene, Riley, David E, van Swieten, John C, Heutink, Peter, Wszolek, Zbigniew K, Uitti, Ryan J, Vandrovcova, Jana, Hurtig, Howard I, Gross, Rachel G, Maetzler, Walter, Goldwurm, Stefano, Tolosa, Eduardo, Borroni, Barbara, Pastor, Pau, Cantwell, Laura B, Han, Mi Ryung, Dillman, Allissa, van der Brug, Marcel P, Gibbs, J Raphael, Cookson, Mark R, Hernandez, Dena G, Singleton, Andrew B, Farrer, Matthew J, Yu, Chang-En, Golbe, Lawrence I, Revesz, Tamas, Hardy, John, Lees, Andrew J, Devlin, Bernie, Hakonarson, Hakon, Müller, Ulrich, and Schellenberg, Gerard D

Subjects
Biological Sciences, Genetics, Pediatric, Prevention, Cerebral Palsy, Rare Diseases, Neurodegenerative, Brain Disorders, Acquired Cognitive Impairment, Human Genome, Perinatal Period - Conditions Originating in Perinatal Period, Frontotemporal Dementia (FTD), Dementia, Neurosciences, Aetiology, 2.1 Biological and endogenous factors, Neurological, Case-Control Studies, Chromosomes, Human, Cohort Studies, Genetic Loci, Genetic Predisposition to Disease, Genetic Variation, Genome-Wide Association Study, Humans, Polymorphism, Single Nucleotide, Prognosis, Risk Factors, Supranuclear Palsy, Progressive, Tauopathies, tau Proteins, PSP Genetics Study Group, Medical and Health Sciences, Developmental Biology, Agricultural biotechnology, Bioinformatics and computational biology
Abstract

Progressive supranuclear palsy (PSP) is a movement disorder with prominent tau neuropathology. Brain diseases with abnormal tau deposits are called tauopathies, the most common of which is Alzheimer's disease. Environmental causes of tauopathies include repetitive head trauma associated with some sports. To identify common genetic variation contributing to risk for tauopathies, we carried out a genome-wide association study of 1,114 individuals with PSP (cases) and 3,247 controls (stage 1) followed by a second stage in which we genotyped 1,051 cases and 3,560 controls for the stage 1 SNPs that yielded P ≤ 10(-3). We found significant previously unidentified signals (P < 5 × 10(-8)) associated with PSP risk at STX6, EIF2AK3 and MOBP. We confirmed two independent variants in MAPT affecting risk for PSP, one of which influences MAPT brain expression. The genes implicated encode proteins for vesicle-membrane fusion at the Golgi-endosomal interface, for the endoplasmic reticulum unfolded protein response and for a myelin structural component.

Published
2011

7. The Gly2019Ser mutation in LRRK2is not fully penetrant in familial Parkinson's disease: the GenePD study

Author

Latourelle, Jeanne C, Sun, Mei, Lew, Mark F, Suchowersky, Oksana, Klein, Christine, Golbe, Lawrence I, Mark, Margery H, Growdon, John H, Wooten, G Frederick, Watts, Ray L, Guttman, Mark, Racette, Brad A, Perlmutter, Joel S, Ahmed, Anwar, Shill, Holly A, Singer, Carlos, Goldwurm, Stefano, Pezzoli, Gianni, Zini, Michela, Saint-Hilaire, Marie H, Hendricks, Audrey E, Williamson, Sally, Nagle, Michael W, Wilk, Jemma B, Massood, Tiffany, Huskey, Karen W, Laramie, Jason M, DeStefano, Anita L, Baker, Kenneth B, Itin, Ilia, Litvan, Irene, Nicholson, Garth, Corbett, Alastair, Nance, Martha, Drasby, Edward, Isaacson, Stuart, Burn, David J, Chinnery, Patrick F, Pramstaller, Peter P, Al-hinti, Jomana, Moller, Anette T, Ostergaard, Karen, Sherman, Scott J, Roxburgh, Richard, Snow, Barry, Slevin, John T, Cambi, Franca, Gusella, James F, and Myers, Richard H

Subjects
Biomedical and Clinical Sciences, Health Sciences, Neurodegenerative, Parkinson's Disease, Brain Disorders, Clinical Research, Genetics, Aging, Neurosciences, Genetic Testing, Aetiology, 2.1 Biological and endogenous factors, Neurological, Age Factors, Aged, Aged, 80 and over, Female, Glycine, Humans, Leucine-Rich Repeat Serine-Threonine Protein Kinase-2, Male, Middle Aged, Mutation, Parkinson Disease, Penetrance, Protein Serine-Threonine Kinases, Random Allocation, Serine, Sex Factors, Medical and Health Sciences, General & Internal Medicine, Biomedical and clinical sciences, Health sciences
Abstract

BackgroundWe report age-dependent penetrance estimates for leucine-rich repeat kinase 2 (LRRK2)-related Parkinson's disease (PD) in a large sample of familial PD. The most frequently seen LRRK2 mutation, Gly2019Ser (G2019S), is associated with approximately 5 to 6% of familial PD cases and 1 to 2% of idiopathic cases, making it the most common known genetic cause of PD. Studies of the penetrance of LRRK2 mutations have produced a wide range of estimates, possibly due to differences in study design and recruitment, including in particular differences between samples of familial PD versus sporadic PD.MethodsA sample, including 903 affected and 58 unaffected members from 509 families ascertained for having two or more PD-affected members, 126 randomly ascertained PD patients and 197 controls, was screened for five different LRRK2 mutations. Penetrance was estimated in families of LRRK2 carriers with consideration of the inherent bias towards increased penetrance in a familial sample.ResultsThirty-one out of 509 families with multiple cases of PD (6.1%) were found to have 58 LRRK2 mutation carriers (6.4%). Twenty-nine of the 31 families had G2019S mutations while two had R1441C mutations. No mutations were identified among controls or unaffected relatives of PD cases. Nine PD-affected relatives of G2019S carriers did not carry the LRRK2 mutation themselves. At the maximum observed age range of 90 to 94 years, the unbiased estimated penetrance was 67% for G2019S families, compared with a baseline PD risk of 17% seen in the non-LRRK2-related PD families.ConclusionLifetime penetrance of LRRK2 estimated in the unascertained relatives of multiplex PD families is greater than that reported in studies of sporadically ascertained LRRK2 cases, suggesting that inherited susceptibility factors may modify the penetrance of LRRK2 mutations. In addition, the presence of nine PD phenocopies in the LRRK2 families suggests that these susceptibility factors may also increase the risk of non-LRRK2-related PD. No differences in penetrance were found between men and women, suggesting that the factors that influence penetrance for LRRK2 carriers are independent of the factors which increase PD prevalence in men.

Published
2008

8. The Gly2019Ser mutation in LRRK2 is not fully penetrant in familial Parkinson's disease: the GenePD study.

Author

Latourelle, Jeanne C, Sun, Mei, Lew, Mark F, Suchowersky, Oksana, Klein, Christine, Golbe, Lawrence I, Mark, Margery H, Growdon, John H, Wooten, G Frederick, Watts, Ray L, Guttman, Mark, Racette, Brad A, Perlmutter, Joel S, Ahmed, Anwar, Shill, Holly A, Singer, Carlos, Goldwurm, Stefano, Pezzoli, Gianni, Zini, Michela, Saint-Hilaire, Marie H, Hendricks, Audrey E, Williamson, Sally, Nagle, Michael W, Wilk, Jemma B, Massood, Tiffany, Huskey, Karen W, Laramie, Jason M, DeStefano, Anita L, Baker, Kenneth B, Itin, Ilia, Litvan, Irene, Nicholson, Garth, Corbett, Alastair, Nance, Martha, Drasby, Edward, Isaacson, Stuart, Burn, David J, Chinnery, Patrick F, Pramstaller, Peter P, Al-hinti, Jomana, Moller, Anette T, Ostergaard, Karen, Sherman, Scott J, Roxburgh, Richard, Snow, Barry, Slevin, John T, Cambi, Franca, Gusella, James F, and Myers, Richard H

Subjects
Humans, Parkinson Disease, Protein-Serine-Threonine Kinases, Serine, Glycine, Random Allocation, Age Factors, Sex Factors, Penetrance, Mutation, Aged, Aged, 80 and over, Middle Aged, Female, Male, Leucine-Rich Repeat Serine-Threonine Protein Kinase-2, and over, Medical and Health Sciences, General & Internal Medicine
Abstract

BackgroundWe report age-dependent penetrance estimates for leucine-rich repeat kinase 2 (LRRK2)-related Parkinson's disease (PD) in a large sample of familial PD. The most frequently seen LRRK2 mutation, Gly2019Ser (G2019S), is associated with approximately 5 to 6% of familial PD cases and 1 to 2% of idiopathic cases, making it the most common known genetic cause of PD. Studies of the penetrance of LRRK2 mutations have produced a wide range of estimates, possibly due to differences in study design and recruitment, including in particular differences between samples of familial PD versus sporadic PD.MethodsA sample, including 903 affected and 58 unaffected members from 509 families ascertained for having two or more PD-affected members, 126 randomly ascertained PD patients and 197 controls, was screened for five different LRRK2 mutations. Penetrance was estimated in families of LRRK2 carriers with consideration of the inherent bias towards increased penetrance in a familial sample.ResultsThirty-one out of 509 families with multiple cases of PD (6.1%) were found to have 58 LRRK2 mutation carriers (6.4%). Twenty-nine of the 31 families had G2019S mutations while two had R1441C mutations. No mutations were identified among controls or unaffected relatives of PD cases. Nine PD-affected relatives of G2019S carriers did not carry the LRRK2 mutation themselves. At the maximum observed age range of 90 to 94 years, the unbiased estimated penetrance was 67% for G2019S families, compared with a baseline PD risk of 17% seen in the non-LRRK2-related PD families.ConclusionLifetime penetrance of LRRK2 estimated in the unascertained relatives of multiplex PD families is greater than that reported in studies of sporadically ascertained LRRK2 cases, suggesting that inherited susceptibility factors may modify the penetrance of LRRK2 mutations. In addition, the presence of nine PD phenocopies in the LRRK2 families suggests that these susceptibility factors may also increase the risk of non-LRRK2-related PD. No differences in penetrance were found between men and women, suggesting that the factors that influence penetrance for LRRK2 carriers are independent of the factors which increase PD prevalence in men.

Published
2008

11. Dementia in Parkinson's disease: Is male gender a risk factor?

Author

Cereda, Emanuele, Cilia, Roberto, Klersy, Catherine, Siri, Chiara, Pozzi, Beatrice, Reali, Elisa, Colombo, Aurora, Zecchinelli, Anna Lena, Mariani, Claudio Bruno, Tesei, Silvana, Canesi, Margherita, Sacilotto, Giorgio, Meucci, Nicoletta, Zini, Michela, Isaias, Ioannis Ugo, Barichella, Michela, Cassani, Erica, Goldwurm, Stefano, and Pezzoli, Gianni

Published
2016
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12. Cellular alterations identified in pluripotent stem cell-derived midbrain spheroids generated from a female patient with progressive external ophthalmoplegia and parkinsonism who carries a novel variation (p.Q811R) in the POLG1 gene

Author

Chumarina, Margarita, Russ, Kaspar, Azevedo, Carla, Heuer, Andreas, Pihl, Maria, Collin, Anna, Frostner, Eleonor Åsander, Elmer, Eskil, Hyttel, Poul, Cappelletti, Graziella, Zini, Michela, Goldwurm, Stefano, and Roybon, Laurent

Published
2019
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16. TARDBP mutations in Parkinson's disease and atypical parkinsonisms

Author

Tiloca, Cinzia, Goldwurm, Stefano, Narghes Calcagno, Verde, Federico, Peverelli, Silvia, Calini, Daniela, Zecchinelli, Anna Lena, Sangalli, Davide, Ratti, Antonia, Pezzoli, Gianni, Silani, Vincenzo, and Ticozzi, Nicola

Abstract

Raw data and supplementary material of the manuscript "TARDBP mutations in Parkinson’s disease and atypical parkinsonisms"

Published
2022
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17. TARDBP mutations in a cohort of Italian patients with Parkinson’s disease and atypical parkinsonisms

Author

Tiloca, Cinzia, primary, Goldwurm, Stefano, additional, Calcagno, Narghes, additional, Verde, Federico, additional, Peverelli, Silvia, additional, Calini, Daniela, additional, Zecchinelli, Anna Lena, additional, Sangalli, Davide, additional, Ratti, Antonia, additional, Pezzoli, Gianni, additional, Silani, Vincenzo, additional, and Ticozzi, Nicola, additional

Published
2022
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19. DNAJC12 and dopa‐responsive nonprogressive parkinsonism

Author

Straniero, Letizia, Guella, Ilaria, Cilia, Roberto, Parkkinen, Laura, Rimoldi, Valeria, Young, Alexander, Asselta, Rosanna, Soldà, Giulia, Sossi, Vesna, Stoessl, A. Jon, Priori, Alberto, Nishioka, Kenya, Hattori, Nobutaka, Follett, Jordan, Rajput, Alex, Blau, Nenad, Pezzoli, Gianni, Farrer, Matthew J., Goldwurm, Stefano, Rajput, Ali H., and Duga, Stefano

Published
2017
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20. Penetrance estimate of LRRK2 p.G2019S mutation in individuals of non‐Ashkenazi Jewish ancestry

Author

Lee, Annie J., Wang, Yuanjia, Alcalay, Roy N., Mejia‐Santana, Helen, Saunders‐Pullman, Rachel, Bressman, Susan, Corvol, Jean‐Christophe, Brice, Alexis, Lesage, Suzanne, Mangone, Graziella, Tolosa, Eduardo, Pont‐Sunyer, Claustre, Vilas, Dolores, Schüle, Birgitt, Kausar, Farah, Foroud, Tatiana, Berg, Daniela, Brockmann, Kathrin, Goldwurm, Stefano, Siri, Chiara, Asselta, Rosanna, Ruiz‐Martinez, Javier, Mondragón, Elisabet, Marras, Connie, Ghate, Taneera, Giladi, Nir, Mirelman, Anat, and Marder, Karen

Published
2017
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21. An exome study of Parkinson’s disease in Sardinia, a Mediterranean genetic isolate

Author

Quadri, Marialuisa, Yang, Xu, Cossu, Giovanni, Olgiati, Simone, Saddi, Valeria M., Breedveld, Guido J., Ouyang, Limei, Hu, Jingchu, Xu, Na, Graafland, Josja, Ricchi, Valeria, Murgia, Daniela, Guedes, Leonor Correia, Mariani, Claudio, Marti, Maria J., Tarantino, Patrizia, Asselta, Rosanna, Valldeoriola, Francesc, Gagliardi, Monica, Pezzoli, Gianni, Ezquerra, Mario, Quattrone, Aldo, Ferreira, Joaquim, Annesi, Grazia, Goldwurm, Stefano, Tolosa, Eduardo, Oostra, Ben A., Melis, Maurizio, Wang, Jun, and Bonifati, Vincenzo

Published
2015
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25. Parkinsonʼs disease beyond 20 years

Author

Cilia, Roberto, Cereda, Emanuele, Klersy, Catherine, Canesi, Margherita, Zecchinelli, Anna L, Mariani, Claudio B, Tesei, Silvana, Sacilotto, Giorgio, Meucci, Nicoletta, Zini, Michela, Ruffmann, Claudio, Isaias, Ioannis U, Goldwurm, Stefano, and Pezzoli, Gianni

Published
2015
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27. TNF-α and α-synuclein fibrils differently regulate human astrocyte immune reactivity and impair mitochondrial respiration

Author

Russ, Kaspar, Teku, Gabriel, Bousset, Luc, Redeker, Virginie, Piel, Sara, Savchenko, Ekaterina, Pomeshchik, Yuriy, Savistchenko, Jimmy, Stummann, Tina C., Azevedo, Carla, Collin, Anna, Goldwurm, Stefano, Fog, Karina, Elmer, Eskil, Vihinen, Mauno, Melki, Ronald, Roybon, Laurent, Lund University [Lund], Biomedical Centre [Lund] (BMC), Centre National de la Recherche Scientifique (CNRS), Service MIRCEN (MIRCEN), Université Paris-Saclay-Centre National de la Recherche Scientifique (CNRS)-Institut de Biologie François JACOB (JACOB), Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Department of Clinical Sciences [Lund], Immunology Section, Department of Experimental Medical Sciences, Medical Faculty, H. Lundbeck A/S [Valby, Denmark], Department of Clinical Genetics and Pathology, Centro Parkinson/Parkinson Institute, ASST ‘‘Gaetano Pini/CTO,’, ANR-14-JPCD-0002,Neutargets,Targeting the propagation of pathogenic protein assemblies in neurodegenerative disease(2014), ANR-15-JPWG-0012,SYNACTION,Unravelling the pathophysiological role of alpha-synuclein aggregation, transmission and neuroinflammation in neurodegeneration(2015), ANR-15-JPWG-0007,MADGIC,Generation of Improved cellular and animal Models for identification of disease phenotype and new therapeutic targets of Alzheimer?s Disease(2015), European Project: (grant No 116060),IMPRiND, and Université Paris-Saclay-Institut de Biologie François JACOB (JACOB)

Subjects
Ubiquitin-Protein Ligases, alpha-synuclein, HLA genes, [SDV]Life Sciences [q-bio], Cell Respiration, Induced Pluripotent Stem Cells, Adenosine Triphosphate, Humans, Amino Acid Sequence, lcsh:QH301-705.5, Antigen Presentation, iPSC, Tumor Necrosis Factor-alpha, Cell Membrane, astrocytes, Parkinson Disease, Mitochondria, Molecular Weight, reactivity, Phenotype, lcsh:Biology (General), Parkinson’s disease, Cytokines, Inflammation Mediators, Peptides, HLA-DRB1 Chains
Abstract

International audience; Here, we examine the cellular changes triggered by tumor necrosis factor alpha (TNF-a) and different alphasynuclein(aSYN) species in astrocytes derived from induced pluripotent stem cells. Human astrocytestreated with TNF-a display a strong reactive pro-inflammatory phenotype with upregulation of pro-inflammatorygene networks, activation of the nuclear factor kB (NF-kB) pathway, and release of pro-inflammatorycytokines, whereas those treated with high-molecular-weight aSYN fibrils acquire a reactive antigen(cross)-presenting phenotype with upregulation of major histocompatibility complex (MHC) genes andincreased human leukocyte antigen (HLA) molecules at the cell surface. Surprisingly, the cell surface locationof MHC proteins is abrogated by larger F110 fibrillar polymorphs, despite the upregulation of MHC genes.Interestingly, TNF-a and aSYN fibrils compete to drive the astrocyte immune reactive response. The astrocyteimmune responses are accompanied by an impaired mitochondrial respiration, which is exacerbatedin Parkinson’s disease (PD) astrocytes. Our data provide evidence for astrocytic involvement in PD pathogenesisand reveal their complex immune reactive responses to exogenous stressors.

Published
2021
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28. Governance of Access in Biobanking: The Case of Telethon Network of Genetic Biobanks

Author

Iacomussi, Sofia, Casareto, Lorena, Locatelli, Manuela, Wang, Chiuhui Mary, Borroni, Simona, Mascalzoni, Deborah, Sangiorgi, Luca, Coviello, Domenico, Zecchinelli, Anna Lena, Renieri, Alessandra, Pegoraro, Elena, Sciacco, Monica, Andreetta, Francesca, Merla, Giuseppe, Nigro, Vincenzo, Garavaglia, Barbara, Filocamo, Mirella, Baldo, Chiara, Goldwurm, Stefano, Cilia, Roberto, Angelini, Corrado, Moggio, Maurizio, Mora, Marina, Politano, Luisa, Iacomussi, S., Casareto, L., Locatelli, M., Wang, C. M., Borroni, S., Mascalzoni, D., Sangiorgi, L., and Nigro, V.

Subjects
Biobanking, Biomedical Research, networking, Medicine (miscellaneous), legal and societal issues, General Biochemistry, Genetics and Molecular Biology, Networking, biobanking, Legal and Societal Issues, Biological Specimen Bank, Genetics, Genetik, Biological Specimen Banks, Sample and data acce, Access Committee, Ethical, Governance, Sample and data access, Legal and Societal Issue, Cell Biology, General Medicine, Tvärvetenskapliga studier inom samhällsvetenskap, Access committee, ethical, governance, sample and data access, Social Sciences Interdisciplinary
Abstract

The discussion concerning the measure of the quality of a biobank should focus not only on the number of stored samples and their quality but also on the assessment of their access arrangements and governance. This article aims at contributing to the ongoing debate on samples and data access governance in biobanking by presenting the case of the Telethon Network of Genetic Biobanks (TNGB). We attempt to contribute to the need for clear and available access criteria and harmonization in access arrangements to maximize the influence of biobanks in the progress of biomedical research. We reviewed all the sample requests submitted to the TNGB from 2008 to 2020, focusing on those rejected by the Access Committee and the reasons behind the rejections. The analysis of the reasons behind the rejected requests allowed us to analyze how those relate to the issues of scientific misconduct, prioritization, and noncompliance with the biobank's mission. We discuss those issues in light of the actions and motivations used by TNGB in the access decision-making process. Based on this analysis, we suggest that a cross-implementation of a checklist for access assessment would improve the whole access process, ensuring a more transparent and smoother governance. Finally, we conclude that the TNGB's Charter and approach toward access governance could contribute as an important reference point to deal with the issues that have emerged in the international discussion on the topic.

Published
2021

29. Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study

Author

Healy, Daniel G, Falchi, Mario, O'Sullivan, Sean S, Bonifati, Vincenzo, Durr, Alexandra, Bressman, Susan, Brice, Alexis, Aasly, Jan, Zabetian, Cyrus P, Goldwurm, Stefano, Ferreira, Joaquim J, Tolosa, Eduardo, Kay, Denise M, Klein, Christine, Williams, David R, Marras, Connie, Lang, Anthony E, Wszolek, Zbigniew K, Berciano, Jose, Schapira, Anthony HV, Lynch, Timothy, Bhatia, Kailash P, Gasser, Thomas, Lees, Andrew J, and Wood, Nicholas W

Published
2008
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31. Parkin analysis in early onset Parkinson's disease

Author

Sironi, Francesca, Primignani, Paola, Zini, Michela, Tunesi, Sara, Ruffmann, Claudio, Ricca, Sara, Brambilla, Tiziana, Antonini, Angelo, Tesei, Silvana, Canesi, Margherita, Zecchinelli, Anna, Mariani, Claudio, Meucci, Nicoletta, Sacilotto, Giorgio, Cilia, Roberto, Isaias, Ioannis U., Garavaglia, Barbara, Ghezzi, Daniele, Travi, Maurizio, Decarli, Adriano, Coviello, Domenico A., Pezzoli, Gianni, and Goldwurm, Stefano

Published
2008
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34. Alpha-synuclein repeat variants and survival in Parkinsonʼs disease

Author

Chung, Sun Ju, Biernacka, Joanna M., Armasu, Sebastian M., Anderson, Kari, Frigerio, Roberta, Aasly, Jan O., Annesi, Grazia, Bentivoglio, Anna Rita, Brighina, Laura, Chartier-Harlin, Marie-Christine, Goldwurm, Stefano, Hadjigeorgiou, Georgios, Jasinska-Myga, Barbara, Jeon, Beom Seok, Kim, Yun Joong, Krüger, Rejko, Lesage, Suzanne, Markopoulou, Katerina, Mellick, George, Morrison, Karen E., Puschmann, Andreas, Tan, Eng-King, Crosiers, David, Theuns, Jessie, Van Broeckhoven, Christine, Wirdefeldt, Karin, Wszolek, Zbigniew K., Elbaz, Alexis, and Maraganore, Demetrius M.

Published
2014
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35. Replication of association between ELAVL4 and Parkinson disease: the GenePD study

Author

DeStefano, Anita L., Latourelle, Jeanne, Lew, Mark F., Suchowersky, Oksana, Klein, Christine, Golbe, Lawrence I., Mark, Margery H., Growdon, John H., Wooten, G. Fredrick, Watts, Ray, Guttman, Mark, Racette, Brad A., Perlmutter, Joel S., Marlor, Lynn, Shill, Holly A., Singer, Carlos, Goldwurm, Stefano, Pezzoli, Gianni, Saint-Hilaire, Marie H., Hendricks, Audrey E., Gower, Adam, Williamson, Sally, Nagle, Michael W., Wilk, Jemma B., Massood, Tiffany, Huskey, Karen W., Baker, Kenneth B., Itin, Ilia, Litvan, Irene, Nicholson, Garth, Corbett, Alastair, Nance, Martha, Drasby, Edward, Isaacson, Stuart, Burn, David J., Chinnery, Patrick F., Pramstaller, Peter P., Al-hinti, Jomana, Moller, Anette T., Ostergaard, Karen, Sherman, Scott J., Roxburgh, Richard, Snow, Barry, Slevin, John T., Cambi, Franca, Gusella, James F., and Myers, Richard H.

Published
2008
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36. Mutations in the GIGYF2 (TNRC15) gene at the PARK11 locus in familial Parkinson disease

Author

Lautier, Corinne, Goldwurm, Stefano, Durr, Alexandra, Giovannone, Barbara, Tsiaras, William G., Pezzoli, Gianni, Brice, Alexis, and Smith, Robert J.

Subjects
Human genome -- Research, Mutation (Biology) -- Research, Parkinson's disease -- Genetic aspects, Biological sciences
Abstract

The article explains the mutations taking place in the GIGYF2 (Grb10-Interacting GYF Protein-2) (TNRC15) gene, which is found at the PARK11 locus in the familial Parkinson disease (PD). Age and incomplete penetrance are shown to highly affect the relation between the gene and the disorder.

Published
2008

37. Biological effects of the PINK1 c.1366C>T mutation: implications in Parkinson disease pathogenesis

Author

Grünewald, Anne, Breedveld, Guido J., Lohmann-Hedrich, Katja, Rohé, Christan F., König, Inke R., Hagenah, Johann, Vanacore, Nicola, Meco, Giuseppe, Antonini, Angelo, Goldwurm, Stefano, Lesage, Suzanne, Dürr, Alexandra, Binkofski, Ferdinand, Siebner, Hartwig, Münchau, Alexander, Brice, Alexis, Oostra, Ben A., Klein, Christine, and Bonifati, Vincenzo

Published
2007
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39. LRRK2 G2019S mutation and Parkinson's disease: A clinical, neuropsychological and neuropsychiatric study in a large Italian sample

Author

Goldwurm, Stefano, Zini, Michela, Di Fonzo, Alessio, De Gaspari, Danilo, Siri, Chiara, Simons, Erik J., van Doeselaar, Marina, Tesei, Silvana, Antonini, Angelo, Canesi, Margherita, Zecchinelli, Anna, Mariani, Claudio, Meucci, Nicoletta, Sacilotto, Giorgio, Cilia, Roberto, Isaias, Ioannis U., Bonetti, A., Sironi, Francesca, Ricca, Sara, Oostra, Ben A., Bonifati, Vincenzo, and Pezzoli, Gianni

Published
2006
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42. Angiogenin Variants in Parkinson Disease and Amyotrophic Lateral Sclerosis

Author

van Es, Michael A., Schelhaas, Helenius J., van Vught, Paul W. J., Ticozzi, Nicola, Andersen, Peter M., Groen, Ewout J. N., Schulte, Claudia, Blauw, Hylke M., Koppers, Max, Diekstra, Frank P., Fumoto, Katsumi, LeClerc, Ashley Lyn, Keagle, Pamela, Bloem, Bastiaan R., Scheffer, Hans, van Nuenen, Bart F. L., van Blitterswijk, Marka, van Rheenen, Wouter, Wills, Anne–Marie, Lowe, Patrick P., Hu, Guo–fu, Yu, Wenhao, Kishikawa, Hiroko, Wu, David, Folkerth, Rebecca D., Mariani, Claudio, Goldwurm, Stefano, Pezzoli, Gianni, Van Damme, Philip, Lemmens, Robin, Dahlberg, Caroline, Birve, Anna, Fernández–Santiago, Rubén, Waibel, Stefan, Klein, Christine, Weber, Markus, van der Kooi, Anneke J., de Visser, Marianne, Verbaan, Dagmar, van Hilten, Jacobus J., Heutink, Peter, Hennekam, Eric A. M., Cuppen, Edwin, Berg, Daniela, Brown, Robert H., Jr, Silani, Vincenzo, Gasser, Thomas, Ludolph, Albert C., Robberecht, Wim, Ophoff, Roel A., Veldink, Jan H., Pasterkamp, Jeroen R., de Bakker, Paul I. W., Landers, John E., van de Warrenburg, Bart P., and van den Berg, Leonard H.

Published
2011
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45. Genome-wide association studies of LRRK2 modifiers of Parkinson's disease

Author

Lai, Dongbing, primary, Alipanahi, Babak, additional, Fontanillas, Pierre, additional, Schwantes-An, Tae-Hwi, additional, Aasly, Jan, additional, Alcalay, Roy N., additional, Beecham, Gary W., additional, Berg, Daniela, additional, Bressman, Susan, additional, Brice, Alexis, additional, Brockman, Kathrin, additional, Clark, Lorraine, additional, Cookson, Mark, additional, Das, Sayantan, additional, Deerlin, Vivianna Van, additional, Farrer, Matthew, additional, Trinh, Joanne, additional, Gasser, Thomas, additional, Goldwurm, Stefano, additional, Gustavsson, Emil, additional, Klein, Christine, additional, Lang, Anthony E., additional, Langston, William J., additional, Latourelle, Jeanne, additional, Lynch, Timothy, additional, Marder, Karen, additional, Marras, Connie, additional, Martin, Eden R., additional, McLean, Cory Y., additional, Mejia-Santana, Helen, additional, Molho, Eric, additional, Myers, Richard H., additional, Nuytemans, Karen, additional, Ozelius, Laurie, additional, Payami, Haydeh, additional, Raymond, Deborah, additional, Rogaeva, Ekaterina, additional, Rogers, Michael P., additional, Ross, Owen A., additional, Samii, Ali, additional, Saunders-Pullman, Rachel, additional, Schule, Birgitt, additional, Schulte, Claudia, additional, Scott, William K., additional, Tanner, Caroline, additional, Tolosa, Eduardo, additional, Tomkins, James E., additional, Vilas, Dolores, additional, Trojanowski, John Q., additional, Uitti, Ryan, additional, Vance, Jeffery M., additional, Visanji, Naomi P., additional, Wszolek, Zbigniew K., additional, Zabetian, Cyrus P., additional, Mirelman, Anat, additional, Giladi, Nir, additional, Urtreger, Avi Orr, additional, Cannon, Paul, additional, Fiske, Brian, additional, and Foroud, Tatiana, additional

Published
2020
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48. A human minisatellite hosts an alternative transcription start site for NPRL3 driving its expression in a repeat number‐dependent manner

Author

Bertuzzi, Maria, primary, Tang, Dave, additional, Calligaris, Raffaella, additional, Vlachouli, Christina, additional, Finaurini, Sara, additional, Sanges, Remo, additional, Goldwurm, Stefano, additional, Catalan, Mauro, additional, Antonutti, Lucia, additional, Manganotti, Paolo, additional, Pizzolato, Gilberto, additional, Pezzoli, Gianni, additional, Persichetti, Francesca, additional, Carninci, Piero, additional, and Gustincich, Stefano, additional

Published
2020
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