Search Results - "Van Der Brug, Marcel"

A meta-analysis of genome-wide association studies identifies 17 new Parkinson's disease risk loci by Chang, Diana, Nalls, Mike A, Hallgrímsdóttir, Ingileif B, Hunkapiller, Julie, van der Brug, Marcel, Cai, Fang, Kerchner, Geoffrey A, Ayalon, Gai, Bingol, Baris, Sheng, Morgan, Hinds, David, Behrens, Timothy W, Singleton, Andrew B, Bhangale, Tushar R, Graham, Robert R

“…Robert Graham and colleagues carried out a GWAS meta-analysis for Parkinson's disease (PD) and report 17 new risk loci. Their analyses support a key role for…”
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Abundant quantitative trait loci exist for DNA methylation and gene expression in human brain by Gibbs, J Raphael, van der Brug, Marcel P, Hernandez, Dena G, Traynor, Bryan J, Nalls, Michael A, Lai, Shiao-Lin, Arepalli, Sampath, Dillman, Allissa, Rafferty, Ian P, Troncoso, Juan, Johnson, Robert, Zielke, H Ronald, Ferrucci, Luigi, Longo, Dan L, Cookson, Mark R, Singleton, Andrew B

“…A fundamental challenge in the post-genome era is to understand and annotate the consequences of genetic variation, particularly within the context of human…”
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Multi-ancestry GWAS analysis identifies two novel loci associated with diabetic eye disease and highlights APOL1 as a high risk locus in patients with diabetic macular edema by Stockwell, Amy D, Chang, Michael C, Mahajan, Anubha, Forrest, William, Anegondi, Neha, Pendergrass, Rion K, Selvaraj, Suresh, Reeder, Jens, Wei, Eric, Iglesias, Victor A, Creps, Natalie M, Macri, Laura, Neeranjan, Andrea N, van der Brug, Marcel P, Scales, Suzie J, McCarthy, Mark I, Yaspan, Brian L

“…Diabetic retinopathy (DR) is a common complication of diabetes. Approximately 20% of DR patients have diabetic macular edema (DME) characterized by fluid…”
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Calpain-mediated tau fragmentation is altered in Alzheimer’s disease progression by Chen, Hsu-Hsin, Liu, Peter, Auger, Paul, Lee, Seung-Hye, Adolfsson, Oskar, Rey-Bellet, Lorianne, Lafrance-Vanasse, Julien, Friedman, Brad A., Pihlgren, Maria, Muhs, Andreas, Pfeifer, Andrea, Ernst, James, Ayalon, Gai, Wildsmith, Kristin R., Beach, Thomas G., van der Brug, Marcel P.

“…The aggregation of intracellular tau protein is a major hallmark of Alzheimer’s disease (AD). The extent and the stereotypical spread of tau pathology in the…”
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RNA binding activity of the recessive parkinsonism protein DJ-1 supports involvement in multiple cellular pathways by van der Brug, Marcel P, Blackinton, Jeff, Chandran, Jayanth, Hao, Ling-Yang, Lal, Ashish, Mazan-Mamczarz, Krystyna, Martindale, Jennifer, Xie, Chengsong, Ahmad, Rili, Thomas, Kelly J, Beilina, Alexandra, Gibbs, J. Raphael, Ding, Jinhui, Myers, Amanda J, Zhan, Ming, Cai, Huaibin, Bonini, Nancy M, Gorospe, Myriam, Cookson, Mark R

“…Parkinson's disease (PD) is a major neurodegenerative condition with several rare Mendelian forms. Oxidative stress and mitochondrial function have been…”
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Lack of Widespread BBB Disruption in Alzheimer’s Disease Models: Focus on Therapeutic Antibodies by Bien-Ly, Nga, Boswell, C. Andrew, Jeet, Surinder, Beach, Thomas G., Hoyte, Kwame, Luk, Wilman, Shihadeh, Vera, Ulufatu, Sheila, Foreman, Oded, Lu, Yanmei, DeVoss, Jason, van der Brug, Marcel, Watts, Ryan J.

“…The blood-brain barrier (BBB) limits brain uptake of therapeutic antibodies. It is believed that the BBB is disrupted in Alzheimer’s disease (AD), potentially…”
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Diverse Brain Myeloid Expression Profiles Reveal Distinct Microglial Activation States and Aspects of Alzheimer’s Disease Not Evident in Mouse Models by Friedman, Brad A., Srinivasan, Karpagam, Ayalon, Gai, Meilandt, William J., Lin, Han, Huntley, Melanie A., Cao, Yi, Lee, Seung-Hye, Haddick, Patrick C.G., Ngu, Hai, Modrusan, Zora, Larson, Jessica L., Kaminker, Joshua S., van der Brug, Marcel P., Hansen, David V.

“…Microglia, the CNS-resident immune cells, play important roles in disease, but the spectrum of their possible activation states is not well understood. We…”
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Alzheimer’s Patient Microglia Exhibit Enhanced Aging and Unique Transcriptional Activation by Srinivasan, Karpagam, Friedman, Brad A., Etxeberria, Ainhoa, Huntley, Melanie A., van der Brug, Marcel P., Foreman, Oded, Paw, Jonathan S., Modrusan, Zora, Beach, Thomas G., Serrano, Geidy E., Hansen, David V.

“…Damage-associated microglia (DAM) profiles observed in Alzheimer’s disease (AD)-related mouse models reflect an activation state that could modulate AD risk or…”
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Inhibition of natural antisense transcripts in vivo results in gene-specific transcriptional upregulation by Modarresi, Farzaneh, Faghihi, Mohammad Ali, Lopez-Toledano, Miguel A, Fatemi, Roya Pedram, Magistri, Marco, Brothers, Shaun P, van der Brug, Marcel P, Wahlestedt, Claes

“…Methods for specific gene silencing have advanced as far as clinical trials, but a similar set of tools does not exist for increasing gene expression…”
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Untangling the brain’s neuroinflammatory and neurodegenerative transcriptional responses by Srinivasan, Karpagam, Friedman, Brad A., Larson, Jessica L., Lauffer, Benjamin E., Goldstein, Leonard D., Appling, Laurie L., Borneo, Jovencio, Poon, Chungkee, Ho, Terence, Cai, Fang, Steiner, Pascal, van der Brug, Marcel P., Modrusan, Zora, Kaminker, Joshua S., Hansen, David V.

“…A common approach to understanding neurodegenerative disease is comparing gene expression in diseased versus healthy tissues. We illustrate that expression…”
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Kinase activity is required for the toxic effects of mutant LRRK2/dardarin by Greggio, Elisa, Jain, Shushant, Kingsbury, Ann, Bandopadhyay, Rina, Lewis, Patrick, Kaganovich, Alice, van der Brug, Marcel P., Beilina, Alexandra, Blackinton, Jeff, Thomas, Kelly Jean, Ahmad, Rili, Miller, David W., Kesavapany, Sashi, Singleton, Andrew, Lees, Andrew, Harvey, Robert J., Harvey, Kirsten, Cookson, Mark R.

“…Mutations in the LRRK2 gene, coding for dardarin, cause dominantly inherited Parkinson's disease (PD). Dardarin is a large protein, and mutations are found…”
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Identification of Stk25 as a genetic modifier of Tau phosphorylation in Dab1-mutant mice by Matsuki, Tohru, Zaka, Mariam, Guerreiro, Rita, van der Brug, Marcel P, Cooper, Jonathan A, Cookson, Mark R, Hardy, John A, Howell, Brian W

“…Hyperphosphorylation of the microtubule binding protein Tau is a feature of a number of neurodegenerative diseases, including Alzheimer's disease. Tau is…”
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Mutations in LRRK2/dardarin associated with Parkinson disease are more toxic than equivalent mutations in the homologous kinase LRRK1 by Greggio, Elisa, Lewis, Patrick A, van der Brug, Marcel P, Ahmad, Rili, Kaganovich, Alice, Ding, Jinhui, Beilina, Alexandra, Baker, Acacia K, Cookson, Mark R

“…Several mutations have been found in the leucine-rich repeat kinase 2 gene (LRRK2), encoding the protein dardarin, which are associated with autosomal dominant…”
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Neurodegenerative Mutation in Cytoplasmic Dynein Alters Its Organization and Dynein-Dynactin and Dynein-Kinesin Interactions by Deng, Wenhan, Garrett, Caroline, Dombert, Benjamin, Soura, Violetta, Banks, Gareth, Fisher, Elizabeth M.C., van der Brug, Marcel P., Hafezparast, Majid

“…A single amino acid change, F580Y (Legs at odd angles (Loa), Dync1h1Loa), in the highly conserved and overlapping homodimerization, intermediate chain, and…”
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Evidence for natural antisense transcript-mediated inhibition of microRNA function by Faghihi, Mohammad Ali, Zhang, Ming, Huang, Jia, Modarresi, Farzaneh, Van der Brug, Marcel P, Nalls, Michael A, Cookson, Mark R, St-Laurent, 3rd, Georges, Wahlestedt, Claes

“…MicroRNAs (miRNAs) have the potential to regulate diverse sets of mRNA targets. In addition, mammalian genomes contain numerous natural antisense transcripts,…”
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Parkinson's disease: From human genetics to clinical trials by van der Brug, Marcel P, Singleton, Andrew, Gasser, Thomas, Lewis, Patrick A

“…Combining genetic insights into the pathogenesis of Parkinson's disease (PD) with findings from animal and cellular models of this disorder has advanced our…”
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Molecular Mechanisms of Alzheimer Disease Protection by the A673T Allele of Amyloid Precursor Protein by Maloney, Janice A., Bainbridge, Travis, Gustafson, Amy, Zhang, Shuo, Kyauk, Roxanne, Steiner, Pascal, van der Brug, Marcel, Liu, Yichin, Ernst, James A., Watts, Ryan J., Atwal, Jasvinder K.

“…Pathogenic mutations in the amyloid precursor protein (APP) gene have been described as causing early onset familial Alzheimer disease (AD). We recently…”
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Kinesin-associated protein 3 (KIFAP3) has no effect on survival in a population-based cohort of ALS patients by Traynor, Bryan J., Nalls, Michael, Lai, Shiao-Lin, Gibbs, Raphael J., Schymick, Jennifer C., Arepalli, Sampath, Hernandez, Dena, van der Brug, Marcel P., Johnson, Janel O., Dillman, Allissa, Cookson, Mark, Moglia, Cristina, Calvo, Andrea, Restagno, Gabriella, Mora, Gabriele, Chiò, Adriano, Cleveland, Don W.

“…It was recently reported that rs1541160 on chromosome 1q24.2 has a marked effect on survival of amyotrophic lateral sclerosis (ALS) patients by influencing…”
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Pathogenic LRRK2 mutations do not alter gene expression in cell model systems or human brain tissue by Devine, Michael J, Kaganovich, Alice, Ryten, Mina, Mamais, Adamantios, Trabzuni, Daniah, Manzoni, Claudia, McGoldrick, Philip, Chan, Diane, Dillman, Allissa, Zerle, Julia, Horan, Susannah, Taanman, Jan-Willem, Hardy, John, Marti-Masso, Jose-Felix, Healy, Daniel, Healey, Daniel, Schapira, Anthony H, Wolozin, Benjamin, Bandopadhyay, Rina, Cookson, Mark R, van der Brug, Marcel P, Lewis, Patrick A

“…Point mutations in LRRK2 cause autosomal dominant Parkinson's disease. Despite extensive efforts to determine the mechanism of cell death in patients with…”
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Ser1292 autophosphorylation is an indicator of LRRK2 kinase activity and contributes to the cellular effects of PD mutations by Sheng, Zejuan, Zhang, Shuo, Bustos, Daisy, Kleinheinz, Tracy, Le Pichon, Claire E, Dominguez, Sara L, Solanoy, Hilda O, Drummond, Jason, Zhang, Xiaolin, Ding, Xiao, Cai, Fang, Song, Qinghua, Li, Xianting, Yue, Zhenyu, van der Brug, Marcel P, Burdick, Daniel J, Gunzner-Toste, Janet, Chen, Huifen, Liu, Xingrong, Estrada, Anthony A, Sweeney, Zachary K, Scearce-Levie, Kimberly, Moffat, John G, Kirkpatrick, Donald S, Zhu, Haitao

“…Mutations in the leucine-rich repeat kinase 2 (LRRK2) gene are the most common cause of familial Parkinson's disease (PD). Although biochemical studies have…”
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