Search Results - "Bonifati, Vincenzo"

Genetics of Parkinson's disease – state of the art, 2013 by Bonifati, Vincenzo

“…Summary In the past 15 years there has been substantial progress in our understanding of the genetics of Parkinson's disease (PD). Highly-penetrant mutations…”
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The genetics of Parkinson's disease: Progress and therapeutic implications by Singleton, Andrew B., Farrer, Matthew J., Bonifati, Vincenzo

“…The past 15 years has witnessed tremendous progress in our understanding of the genetic basis for Parkinson's disease (PD). Notably, whereas most mutations,…”
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Effect of resveratrol on mitochondrial function: Implications in parkin-associated familiar Parkinson's disease by Ferretta, Anna, Gaballo, Antonio, Tanzarella, Paola, Piccoli, Claudia, Capitanio, Nazzareno, Nico, Beatrice, Annese, Tiziana, Di Paola, Marco, Dell'Aquila, Claudia, De Mari, Michele, Ferranini, Ermanno, Bonifati, Vincenzo, Pacelli, Consiglia, Cocco, Tiziana

“…Mitochondrial dysfunction and oxidative stress occur in Parkinson's disease (PD), but the molecular mechanisms controlling these events are not completely…”
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The SAC1 domain in synaptojanin is required for autophagosome maturation at presynaptic terminals by Vanhauwaert, Roeland, Kuenen, Sabine, Masius, Roy, Bademosi, Adekunle, Manetsberger, Julia, Schoovaerts, Nils, Bounti, Laura, Gontcharenko, Serguei, Swerts, Jef, Vilain, Sven, Picillo, Marina, Barone, Paolo, Munshi, Shashini T, de Vrij, Femke MS, Kushner, Steven A, Gounko, Natalia V, Mandemakers, Wim, Bonifati, Vincenzo, Meunier, Frederic A, Soukup, Sandra‐Fausia, Verstreken, Patrik

“…Presynaptic terminals are metabolically active and accrue damage through continuous vesicle cycling. How synapses locally regulate protein homeostasis is…”
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Mutations in SLC30A10 Cause Parkinsonism and Dystonia with Hypermanganesemia, Polycythemia, and Chronic Liver Disease by Quadri, Marialuisa, Federico, Antonio, Zhao, Tianna, Breedveld, Guido J., Battisti, Carla, Delnooz, Cathérine, Severijnen, Lies-Anne, Di Toro Mammarella, Lara, Mignarri, Andrea, Monti, Lucia, Sanna, Antioco, Lu, Peng, Punzo, Francesca, Cossu, Giovanni, Willemsen, Rob, Rasi, Fabrizio, Oostra, Ben A., van de Warrenburg, Bart P., Bonifati, Vincenzo

“…Manganese is essential for several metabolic pathways but becomes toxic in excessive amounts. Manganese levels in the body are therefore tightly regulated, but…”
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False negatives in GBA1 sequencing due to polymerase dependent allelic imbalance by den Heijer, Jonas M., Schmitz, Arnoud, Lansbury, Peter, Cullen, Valerie C., Hilt, Dana C., Bonifati, Vincenzo, Groeneveld, Geert Jan

“…A variant in the GBA1 gene is one of the most common genetic risk factors to develop Parkinson’s disease (PD). Here the serendipitous finding is reported of a…”
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Parkinson’s disease protein DJ-1 regulates ATP synthase protein components to increase neuronal process outgrowth by Chen, Rongmin, Park, Han-A, Mnatsakanyan, Nelli, Niu, Yulong, Licznerski, Pawel, Wu, Jing, Miranda, Paige, Graham, Morven, Tang, Jack, Boon, Agnita J. W., Cossu, Giovanni, Mandemakers, Wim, Bonifati, Vincenzo, Smith, Peter J. S., Alavian, Kambiz N., Jonas, Elizabeth A.

“…Familial Parkinson’s disease (PD) protein DJ-1 mutations are linked to early onset PD. We have found that DJ-1 binds directly to the F 1 F O ATP synthase β…”
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Genotype–Phenotype Relations for the Atypical Parkinsonism Genes: MDSGene Systematic Review by Wittke, Christina, Petkovic, Sonja, Dobricic, Valerija, Schaake, Susen, Arzberger, Thomas, Compta, Yaroslau, Englund, Elisabet, Ferguson, Leslie W., Gelpi, Ellen, Roeber, Sigrun, Giese, Armin, Grossman, Murray, Irwin, David J., Meissner, Wassilios G., Nilsson, Christer, Pantelyat, Alexander, Rajput, Alex, Swieten, John C., Troakes, Claire, Respondek, Gesine, Weissbach, Anne, Madoev, Harutyun, Trinh, Joanne, Vollstedt, Eva‐Juliane, Kuhnke, Neele, Lohmann, Katja, Dulovic Mahlow, Marija, Marras, Connie, König, Inke R., Stamelou, Maria, Bonifati, Vincenzo, Lill, Christina M., Kasten, Meike, Huppertz, Hans‐Jürgen, Höglinger, Günter, Klein, Christine

“…ABSTRACT This Movement Disorder Society Genetic mutation database Systematic Review focuses on monogenic atypical parkinsonism with mutations in the ATP13A2,…”
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PARK20 caused by SYNJ1 homozygous Arg258Gln mutation in a new Italian family by Olgiati, Simone, De Rosa, Anna, Quadri, Marialuisa, Criscuolo, Chiara, Breedveld, Guido J., Picillo, Marina, Pappatà, Sabina, Quarantelli, Mario, Barone, Paolo, De Michele, Giuseppe, Bonifati, Vincenzo

“…SYNJ1 has been recently identified by two independent groups as the gene defective in a novel form of autosomal recessive, early-onset atypical parkinsonism…”
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LRP10 interacts with SORL1 in the intracellular vesicle trafficking pathway in non-neuronal brain cells and localises to Lewy bodies in Parkinson’s disease and dementia with Lewy bodies by Grochowska, Martyna M., Carreras Mascaro, Ana, Boumeester, Valerie, Natale, Domenico, Breedveld, Guido J., Geut, Hanneke, van Cappellen, Wiggert A., Boon, Agnita J. W., Kievit, Anneke J. A., Sammler, Esther, Parchi, Piero, Cortelli, Pietro, Alessi, Dario R., van de Berg, Wilma D. J., Bonifati, Vincenzo, Mandemakers, Wim

“…Loss-of-function variants in the low-density lipoprotein receptor-related protein 10 ( LRP10 ) gene have been associated with autosomal-dominant Parkinson’s…”
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Manganese transport disorder: Novel SLC30A10 mutations and early phenotypes by Quadri, Marialuisa, Kamate, Mahesh, Sharma, Suvasini, Olgiati, Simone, Graafland, Josja, Breedveld, Guido J., Kori, Indu, Hattiholi, Virupaxi, Jain, Puneet, Aneja, Satinder, Kumar, Atin, Gulati, Parveen, Goel, Medha, Talukdar, Bibek, Bonifati, Vincenzo

“…ABSTRACT Background SLC30A10 mutations cause an autosomal recessive disorder, characterized by hypermanganesaemia, polycythemia, early‐onset dystonia,…”
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CRISPR/Cas9-mediated LRP10 Knockout in HuTu-80 and HEK 293T Cell Lines by Grochowska, Martyna M, Bonifati, Vincenzo, Mandemakers, Wim

“…Loss-of-function (LoF) variants in the low-density lipoprotein receptor-related protein 10 gene ( ) have been recently implicated in the development of…”
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PERK-Mediated Unfolded Protein Response Activation and Oxidative Stress in PARK20 Fibroblasts by Amodio, Giuseppina, Moltedo, Ornella, Fasano, Dominga, Zerillo, Lucrezia, Oliveti, Marco, Di Pietro, Paola, Faraonio, Raffaella, Barone, Paolo, Pellecchia, Maria Teresa, De Rosa, Anna, De Michele, Giuseppe, Polishchuk, Elena, Polishchuk, Roman, Bonifati, Vincenzo, Nitsch, Lucio, Pierantoni, Giovanna Maria, Renna, Maurizio, Criscuolo, Chiara, Paladino, Simona, Remondelli, Paolo

“…PARK20, an early onset autosomal recessive parkinsonism is due to mutations in the phosphatidylinositol-phosphatase Synaptojanin 1 (Synj1). We have recently…”
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deCLUTTER2+ - a pipeline to analyze calcium traces in a stem cell model for ventral midbrain patterned astrocytes by Grochowska, Martyna M, Ferraro, Federico, Carreras Mascaro, Ana, Natale, Domenico, Winkelaar, Amber, Boumeester, Valerie, Breedveld, Guido J, Bonifati, Vincenzo, Mandemakers, Wim

“…Astrocytes are the most populous cell type of the human central nervous system and are essential for physiological brain function. Increasing evidence suggests…”
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A common LRRK2 mutation in idiopathic Parkinson's disease by Gilks, William P, Abou-Sleiman, Patrick M, Gandhi, Sonia, Jain, Shushant, Singleton, Andrew, Lees, Andrew J, Shaw, Karen, Bhatia, Kailash P, Bonifati, Vincenzo, Quinn, Niall P, Lynch, John, Healy, Daniel G, Holton, Janice L, Revesz, Tamas, Wood, Nicholas W

“…Mutations in the leucine-rich repeat kinase 2 ( LRRK2) gene have been shown to cause autosomal dominant Parkinson's disease. Few mutations in this gene have…”
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Early-onset parkinsonism caused by alpha-synuclein gene triplication: Clinical and genetic findings in a novel family by Olgiati, Simone, Thomas, Astrid, Quadri, Marialuisa, Breedveld, Guido J, Graafland, Josja, Eussen, Hubertus, Douben, Hannie, de Klein, Annelies, Onofrj, Marco, Bonifati, Vincenzo

“…Abstract Introduction Triplications of SNCA , the gene encoding for α-synuclein, cause a very rare Mendelian form of early-onset parkinsonism combined with…”
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Primary familial brain calcification: update on molecular genetics by Taglia, Ilaria, Bonifati, Vincenzo, Mignarri, Andrea, Dotti, Maria Teresa, Federico, Antonio

“…Primary familial brain calcification is a neuropsychiatric disorder with calcium deposits in the brain, especially in basal ganglia, cerebellum and subcortical…”
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Generation and characterization of a genetic Parkinson’s disease-patient derived iPSC line DJ-1-delP (LCSBi008-A) by Mencke, Pauline, Boussaad, Ibrahim, Önal, Gizem, Kievit, Anneke J.A., Boon, Agnita J.W., Mandemakers, Wim, Bonifati, Vincenzo, Krüger, Rejko

“…Here, we describe an induced pluripotent stem cell (iPSC) line that was derived from fibroblasts obtained from a monogenic Parkinson’s disease (PD) patient…”
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Gene Expression Differences in Peripheral Blood of Parkinson's Disease Patients with Distinct Progression Profiles by Pinho, Raquel, Guedes, Leonor C, Soreq, Lilach, Lobo, Patrícia P, Mestre, Tiago, Coelho, Miguel, Rosa, Mário M, Gonçalves, Nilza, Wales, Pauline, Mendes, Tiago, Gerhardt, Ellen, Fahlbusch, Christiane, Bonifati, Vincenzo, Bonin, Michael, Miltenberger-Miltényi, Gabriel, Borovecki, Fran, Soreq, Hermona, Ferreira, Joaquim J, F Outeiro, Tiago

“…The prognosis of neurodegenerative disorders is clinically challenging due to the inexistence of established biomarkers for predicting disease progression…”
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Generation of isogenic control DJ-1-delP GC13 for the genetic Parkinson‘s disease-patient derived iPSC line DJ-1-delP (LCSBi008-A-1) by Mencke, Pauline, Hanss, Zoé, Jarazo, Javier, Massart, François, Rybicki, Arkadiusz, Petkovski, Elizabet, Glaab, Enrico, Boussaad, Ibrahim, Bonifati, Vincenzo, Christian Schwamborn, Jens, Mandemakers, Wim, Krüger, Rejko

“…We describe the generation of an isogenic control cell line DJ-1-delP GC13 from an induced pluripotent stem cell (iPSC) line DJ-1-delP LCSBi008-A that was…”
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