Search Results - "SCHAPIRA, Anthony H. V"

Mitochondrial diseases by Schapira, Anthony HV, Prof

“…Summary Mitochondria have a crucial role in cellular bioenergetics and apoptosis, and thus are important to support cell function and in determination of cell…”
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Slowing of neurodegeneration in Parkinson's disease and Huntington's disease: future therapeutic perspectives by Schapira, Anthony H V, Prof, Olanow, C Warren, Prof, Greenamyre, J Timothy, Prof, Bezard, Erwan, Prof

“…Summary Several important advances have been made in our understanding of the pathways that lead to cell dysfunction and death in Parkinson's disease and…”
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Non-motor symptoms of Parkinson's disease: dopaminergic pathophysiology and treatment by Chaudhuri, K Ray, DSc, Schapira, Anthony HV, FMedSci

“…Summary Several studies, including work from the Parkinson's disease (PD) non-motor group and others, have established that the non-motor symptoms of PD are…”
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Glucocerebrosidase deficiency in substantia nigra of parkinson disease brains by Gegg, Matthew E., Burke, Derek, Heales, Simon J. R., Cooper, J. Mark, Hardy, John, Wood, Nicholas W., Schapira, Anthony H. V.

“…Objective: Mutations in the glucocerebrosidase gene (GBA) represent a significant risk factor for developing Parkinson disease (PD). We investigated the…”
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Ambroxol for the Treatment of Patients With Parkinson Disease With and Without Glucocerebrosidase Gene Mutations: A Nonrandomized, Noncontrolled Trial by Mullin, Stephen, Smith, Laura, Lee, Katherine, D'Souza, Gayle, Woodgate, Philip, Elflein, Josh, Hällqvist, Jenny, Toffoli, Marco, Streeter, Adam, Hosking, Joanne, Heywood, Wendy E, Khengar, Rajeshree, Campbell, Philip, Hehir, Jason, Cable, Sarah, Mills, Kevin, Zetterberg, Henrik, Limousin, Patricia, Libri, Vincenzo, Foltynie, Tom, Schapira, Anthony H V

“…Mutations of the glucocerebrosidase gene, GBA1 (OMIM 606463), are the most important risk factor for Parkinson disease (PD). In vitro and in vivo studies have…”
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Evolution of prodromal clinical markers of Parkinson disease in a GBA mutation-positive cohort by Beavan, Michelle, McNeill, Alisdair, Proukakis, Christos, Hughes, Derralynn A, Mehta, Atul, Schapira, Anthony H V

“…Numerically, the most important genetic risk factor for the development of Parkinson disease (PD) is the presence of a glucocerebrosidase gene (GBA) mutation…”
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Mitochondrial and lysosomal biogenesis are activated following PINK1/parkin‐mediated mitophagy by Ivankovic, Davor, Chau, Kai‐Yin, Schapira, Anthony H. V., Gegg, Matthew E.

“…Impairment of the autophagy–lysosome pathway is implicated with the changes in α‐synuclein and mitochondrial dysfunction observed in Parkinson's disease (PD)…”
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Mitochondrial disease by SCHAPIRA, Anthony H. V

“…Defects of mitochondrial metabolism cause a wide range of human diseases that include examples from all medical subspecialties. This review updates the topic…”
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Mitofusin 1 and mitofusin 2 are ubiquitinated in a PINK1/parkin-dependent manner upon induction of mitophagy by Gegg, Matthew E., Cooper, J. Mark, Chau, Kai-Yin, Rojo, Manuel, Schapira, Anthony H.V., Taanman, Jan-Willem

“…Mitochondrial dysfunction and perturbed degradation of proteins have been implicated in Parkinson's disease (PD) pathogenesis. Mutations in the Parkin and…”
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Glucocerebrosidase is imported into mitochondria and preserves complex I integrity and energy metabolism by Baden, Pascale, Perez, Maria Jose, Raji, Hariam, Bertoli, Federico, Kalb, Stefanie, Illescas, María, Spanos, Fokion, Giuliano, Claudio, Calogero, Alessandra Maria, Oldrati, Marvin, Hebestreit, Hannah, Cappelletti, Graziella, Brockmann, Kathrin, Gasser, Thomas, Schapira, Anthony H. V., Ugalde, Cristina, Deleidi, Michela

“…Mutations in GBA1 , the gene encoding the lysosomal enzyme β-glucocerebrosidase (GCase), which cause Gaucher’s disease, are the most frequent genetic risk…”
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Ambroxol improves lysosomal biochemistry in glucocerebrosidase mutation-linked Parkinson disease cells by McNeill, Alisdair, Magalhaes, Joana, Shen, Chengguo, Chau, Kai-Yin, Hughes, Derralyn, Mehta, Atul, Foltynie, Tom, Cooper, J. Mark, Abramov, Andrey Y., Gegg, Matthew, Schapira, Anthony H.V.

“…Heterozygous GBA gene mutations are the most frequent Parkinson’s disease risk factor. Using Parkinson’s disease patient derived fibroblasts McNeill et al…”
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Molecular and clinical prodrome of Parkinson disease: implications for treatment by Schapira, Anthony H. V, Tolosa, Eduardo

“…The development of interventions to slow or prevent the progression of Parkinson disease (PD) will depend on a clearer understanding of the etiology and…”
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Silencing of PINK1 expression affects mitochondrial DNA and oxidative phosphorylation in dopaminergic cells by Gegg, Matthew E, Cooper, J Mark, Schapira, Anthony H V, Taanman, Jan-Willem

“…Mitochondrial dysfunction has been implicated in the pathogenesis of Parkinson's disease (PD). Impairment of the mitochondrial electron transport chain (ETC)…”
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The PINK1-Parkin mitophagy signalling pathway is not functional in peripheral blood mononuclear cells by Bradshaw, Aaron V, Campbell, Philip, Schapira, Anthony H V, Morris, Huw R, Taanman, Jan-Willem

“…Mutations in the PINK1 and PRKN genes are the most common cause of early-onset familial Parkinson disease. These genes code for the PINK1 and Parkin proteins,…”
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Non-motor features of Parkinson disease by Schapira, Anthony H V, Chaudhuri, K Ray, Jenner, Peter

“…This corrects the article DOI: 10.1038/nrn.2017.62…”
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Timing of deep brain stimulation in Parkinson disease: A need for reappraisal? by deSouza, Ruth-Mary, Moro, Elena, Lang, Anthony E., Schapira, Anthony H. V.

“…We review the current application of deep brain stimulation (DBS) in Parkinson disease (PD) and consider the evidence that earlier use of DBS confers long‐term…”
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G2019S leucine-rich repeat kinase 2 causes uncoupling protein-mediated mitochondrial depolarization by PAPKOVSKAIA, Tatiana D, CHAU, Kai-Yin, MARK COOPER, J, INESTA-VAQUERA, Francisco, PAPKOVSKY, Dmitri B, HEALY, Daniel G, NISHIO, Koji, STADDON, James, DUCHEN, Michael R, HARDY, John, SCHAPIRA, Anthony H. V

“…The G2019S leucine rich repeat kinase 2 (LRRK2) mutation is the most common genetic cause of Parkinson's disease (PD), clinically and pathologically…”
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Mutant Parkin impairs mitochondrial function and morphology in human fibroblasts by Grünewald, Anne, Voges, Lisa, Rakovic, Aleksandar, Kasten, Meike, Vandebona, Himesha, Hemmelmann, Claudia, Lohmann, Katja, Orolicki, Slobodanka, Ramirez, Alfredo, Schapira, Anthony H V, Pramstaller, Peter P, Sue, Carolyn M, Klein, Christine

“…Mutations in Parkin are the most common cause of autosomal recessive Parkinson disease (PD). The mitochondrially localized E3 ubiquitin-protein ligase Parkin…”
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Relationship between alpha synuclein phosphorylation, proteasomal inhibition and cell death: relevance to Parkinson’s disease pathogenesis by Chau, Kai‐Yin, Ching, Hey Long, Schapira, Anthony H. V., Cooper, J. Mark

“…Alpha synuclein can be phosphorylated at serine129 (P‐S129), and the presence of highly phosphorylated α‐synuclein in Lewy bodies suggests changes to its…”
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International multicenter pilot study of the first comprehensive self-completed nonmotor symptoms questionnaire for Parkinson's disease: The NMSQuest study by Chaudhuri, Kallol Ray, Martinez-Martin, Pablo, Schapira, Anthony H.V., Stocchi, Fabrizio, Sethi, Kapil, Odin, Per, Brown, Richard G., Koller, William, Barone, Paolo, MacPhee, Graeme, Kelly, Linda, Rabey, Martin, MacMahon, Doug, Thomas, Sue, Ondo, William, Rye, David, Forbes, Alison, Tluk, Susanne, Dhawan, Vandana, Bowron, Annette, Williams, Adrian J., Olanow, Charles W.

“…Nonmotor symptoms (NMS) of Parkinson's disease (PD) are not well recognized in clinical practice, either in primary or in secondary care, and are frequently…”
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