Recent developments in biomarkers in Parkinson disease

Por Schapira, Anthony H.V.
Publicado em 2013

Mitochondrial disorders in neurology /

Por Schapira, Anthony H.V., DiMauro, S.
Publicado em 1994

PINK1-parkin-dependent mitophagy involves ubiquitination of mitofusins 1 and 2: Implications for Parkinson disease pathogenesis

Por Gegg, Matthew E., Schapira, Anthony H.V.
Publicado em 2011

Mitochondrial dysfunction associated with glucocerebrosidase deficiency

Por Gegg, Matthew E., Schapira, Anthony H.V.
Publicado no Neurobiol Dis (2016)

PINK1 disables the anti-fission machinery to segregate damaged mitochondria for mitophagy

Por Pryde, Kenneth R., Smith, Heather L., Chau, Kai-Yin, Schapira, Anthony H.V.
Publicado no J Cell Biol (2016)

A Human Neural Crest Stem Cell-Derived Dopaminergic Neuronal Model Recapitulates Biochemical Abnormalities in GBA1 Mutation Carriers

Por Yang, Shi-Yu, Beavan, Michelle, Chau, Kai-Yin, Taanman, Jan-Willem, Schapira, Anthony H.V.
Publicado no Stem Cell Reports (2017)

Clinical prodromes of neurodegeneration in Anderson-Fabry disease

Por Löhle, Matthias, Hughes, Derralynn, Milligan, Alan, Richfield, Linda, Reichmann, Heinz, Mehta, Atul, Schapira, Anthony H.V.
Publicado no Neurology (2015)

No evidence for substrate accumulation in Parkinson brains with GBA mutations

Por Gegg, Matthew E., Sweet, Lindsay, Wang, Bing H., Shihabuddin, Lamya S., Sardi, Sergio Pablo, Schapira, Anthony H.V.
Publicado no Mov Disord (2015)

Mitofusin 1 and mitofusin 2 are ubiquitinated in a PINK1/parkin-dependent manner upon induction of mitophagy

Por Gegg, Matthew E., Cooper, J. Mark, Chau, Kai-Yin, Rojo, Manuel, Schapira, Anthony H.V., Taanman, Jan-Willem
Publicado em 2010

Autophagic lysosome reformation dysfunction in glucocerebrosidase deficient cells: relevance to Parkinson disease

Por Magalhaes, Joana, Gegg, Matthew E., Migdalska-Richards, Anna, Doherty, Mary K., Whitfield, Phillip D., Schapira, Anthony H.V.
Publicado no Hum Mol Genet (2016)

Novel pathogenic mutations in the glucocerebrosidase locus

Por Duran, Raquel, McNeill, Alisdair, Mehta, Atul, Hughes, Derralyn, Cox, Timothy, Deegan, Patrick, Schapira, Anthony H.V., Hardy, John
Publicado em 2012

Retinal thinning in Gaucher disease patients and carriers: Results of a pilot study()()

Por McNeill, Alisdair, Roberti, Gloria, Lascaratos, Gerassimos, Hughes, Derralynn, Mehta, Atul, Garway-Heath, David F., Schapira, Anthony H.V.
Publicado em 2013

Hyposmia and Cognitive Impairment in Gaucher Disease Patients and Carriers

Por McNeill, Alisdair, Duran, Raquel, Proukakis, Christos, Bras, Jose, Hughes, Derralyn, Mehta, Atuhl, Hardy, John, Wood, Nicholas W., Schapira, Anthony H.V.
Publicado em 2012

Mitochondria and Quality Control Defects in a Mouse Model of Gaucher Disease—Links to Parkinson’s Disease

Por Osellame, Laura D., Rahim, Ahad A., Hargreaves, Iain P., Gegg, Matthew E., Richard-Londt, Angela, Brandner, Sebastian, Waddington, Simon N., Schapira, Anthony H.V., Duchen, Michael R.
Publicado em 2013

Pramipexole in patients with early Parkinson's disease (PROUD): a randomised delayed-start trial

Por Schapira, Anthony HV, McDermott, Michael P, Barone, Paolo, Comella, Cynthia L, Albrecht, Stefan, Hsu, Helen H, Massey, Daniel H, Mizuno, Yoshikuni, Poewe, Werner, Rascol, Olivier, Marek, Kenneth
Publicado em 2013

Ambroxol improves lysosomal biochemistry in glucocerebrosidase mutation-linked Parkinson disease cells

Por 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.
Publicado em 2014

G2019S leucine-rich repeat kinase 2 causes uncoupling protein-mediated mitochondrial depolarization

Por Papkovskaia, Tatiana D., Chau, Kai-Yin, Inesta-Vaquera, Francisco, Papkovsky, Dmitri B., Healy, Daniel G., Nishio, Koji, Staddon, James, Duchen, Michael R., Hardy, John, Schapira, Anthony H.V., Cooper, J. Mark
Publicado em 2012

Mitochondrial impairment increases FL-PINK1 levels by calcium-dependent gene expression()

Por Gómez-Sánchez, Rubén, Gegg, Matthew E., Bravo-San Pedro, José M., Niso-Santano, Mireia, Alvarez-Erviti, Lydia, Pizarro-Estrella, Elisa, Gutiérrez-Martín, Yolanda, Alvarez-Barrientos, Alberto, Fuentes, José M., González-Polo, Rosa Ana, Schapira, Anthony H.V.
Publicado em 2014

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

Por 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, Wood, Nicholas W
Publicado em 2008

Glucocerebrosidase 1 deficient Danio rerio mirror key pathological aspects of human Gaucher disease and provide evidence of early microglial activation preceding alpha-synuclein-in...

Por Keatinge, Marcus, Bui, Hai, Menke, Aswin, Chen, Yu-Chia, Sokol, Anna M., Bai, Qing, Ellett, Felix, Da Costa, Marc, Burke, Derek, Gegg, Matthew, Trollope, Lisa, Payne, Thomas, McTighe, Aimee, Mortiboys, Heather, de Jager, Sarah, Nuthall, Hugh, Kuo, Ming-Shang, Fleming, Angeleen, Schapira, Anthony H.V., Renshaw, Stephen A., Highley, J. Robin, Chacinska, Agnieszka, Panula, Pertti, Burton, Edward A., O'Neill, Michael J., Bandmann, Oliver
Publicado no Hum Mol Genet (2015)