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Items: 1 to 20 of 27

1.
Genes associated with Parkinson’s disease: regulation of autophagy and beyond
Alexandra Beilina, Mark R Cookson
J Neurochem. Author manuscript; available in PMC 2018 Mar 2.
Published in final edited form as: J Neurochem. 2016 Oct; 139(Suppl 1): 91–107. Published online 2015 Sep 3. doi: 10.1111/jnc.13266
PMCID:
PMC5834228
AbstractArticlePDF–1018K
2.
Progranulin Recruits HSP70 to β-Glucocerebrosidase and Is Therapeutic Against Gaucher Disease
Jinlong Jian, Qing-Yun Tian, Aubryanna Hettinghouse, Shuai Zhao, Helen Liu, Jianlu Wei, Gabriele Grunig, Wujuan Zhang, Kenneth D.R. Setchell, Ying Sun, Herman S. Overkleeft, Gerald L. Chan, Chuan-ju Liu
EBioMedicine. 2016 Nov; 13: 212–224. Published online 2016 Oct 24. doi: 10.1016/j.ebiom.2016.10.010
PMCID:
PMC5264254
AbstractArticlePDF–2.2M
3.
Autophagic lysosome reformation dysfunction in glucocerebrosidase deficient cells: relevance to Parkinson disease
Joana Magalhaes, Matthew E. Gegg, Anna Migdalska-Richards, Mary K. Doherty, Phillip D. Whitfield, Anthony H.V. Schapira
Hum Mol Genet. 2016 Aug 15; 25(16): 3432–3445. Published online 2016 Jul 4. doi: 10.1093/hmg/ddw185
PMCID:
PMC5179940
AbstractArticlePDF–1.2M
4.
Glucosylated cholesterol in mammalian cells and tissues: formation and degradation by multiple cellular β-glucosidases
André R. A. Marques, Mina Mirzaian, Hisako Akiyama, Patrick Wisse, Maria J. Ferraz, Paulo Gaspar, Karen Ghauharali-van der Vlugt, Rianne Meijer, Pilar Giraldo, Pilar Alfonso, Pilar Irún, Maria Dahl, Stefan Karlsson, Elena V. Pavlova, Timothy M. Cox, Saskia Scheij, Marri Verhoek, Roelof Ottenhoff, Cindy P. A. A. van Roomen, Navraj S. Pannu, Marco van Eijk, Nick Dekker, Rolf G. Boot, Herman S. Overkleeft, Edward Blommaart, Yoshio Hirabayashi, Johannes M. Aerts
J Lipid Res. 2016 Mar; 57(3): 451–463. doi: 10.1194/jlr.M064923
PMCID:
PMC4766994
AbstractArticlePDF–1.2M
5.
Impaired intracellular trafficking defines early Parkinson's disease
Benjamin H.M. Hunn, Stephanie J. Cragg, J. Paul Bolam, Maria-Grazia Spillantini, Richard Wade-Martins
Trends Neurosci. 2015 Mar; 38(3): 178–188. doi: 10.1016/j.tins.2014.12.009
PMCID:
PMC4740565
AbstractArticle
6.
Glucocerebrosidase mutations in diffuse Lewy body disease
Kenya Nishioka, Owen A. Ross, Carles Vilariño-Güell, Stephanie A. Cobb, Jennifer M. Kachergus, David M.A. Mann, Julie Snowden, Anna M.T. Richardson, David Neary, Christopher A. Robinson, Alex Rajput, Spiridon Papapetropoulos, Deborah C. Mash, Rajesh Pahwa, Kelly E. Lyons, Zbigniew K. Wszolek, Dennis W. Dickson, Matthew J. Farrer
Parkinsonism Relat Disord. Author manuscript; available in PMC 2016 Jan 21.
Published in final edited form as: Parkinsonism Relat Disord. 2011 Jan; 17(1): 55–57. doi: 10.1016/j.parkreldis.2010.09.009
PMCID:
PMC4721925
AbstractArticlePDF–365K
7.
Gene-Wise Association of Variants in Four Lysosomal Storage Disorder Genes in Neuropathologically Confirmed Lewy Body Disease
Lorraine N. Clark, Robin Chan, Rong Cheng, Xinmin Liu, Naeun Park, Nancy Parmalee, Sergey Kisselev, Etty Cortes, Paola A. Torres, Gregory M. Pastores, Jean P. Vonsattel, Roy Alcalay, Karen Marder, Lawrence L. Honig, Stanley Fahn, Richard Mayeux, Michael Shelanski, Gilbert Di Paolo, Joseph H. Lee
PLoS One. 2015; 10(5): e0125204. Published online 2015 May 1. doi: 10.1371/journal.pone.0125204
PMCID:
PMC4416714
AbstractArticlePDF–789K
8.
iPS Cell-Derived Dopamine Neurons Reveal Differences between Monozygotic Twins Discordant for Parkinson’s Disease
Chris M. Woodard, Brian A. Campos, Sheng-Han Kuo, Melissa J. Nirenberg, Michael W. Nestor, Matthew Zimmer, Eugene Mosharov, David Sulzer, Hongyan Zhou, Daniel Paull, Lorraine Clark, Eric E. Schadt, Sergio Pablo Sardi, Lee Rubin, Kevin Eggan, Mathew Brock, Scott Lipnick, Mahendra Rao, Stephen Chang, Aiqun Li, Scott Noggle
Cell Rep. Author manuscript; available in PMC 2015 Nov 20.
Published in final edited form as: Cell Rep. 2014 Nov 20; 9(4): 1173–1182. Published online 2014 Nov 6. doi: 10.1016/j.celrep.2014.10.023
PMCID:
PMC4255586
AbstractArticlePDF–3.1M
9.
The LIMP-2/SCARB2 Binding Motif on Acid β-Glucosidase: BASIC AND APPLIED IMPLICATIONS FOR GAUCHER DISEASE AND ASSOCIATED NEURODEGENERATIVE DISEASES
Benjamin Liou, Wendy D. Haffey, Kenneth D. Greis, Gregory A. Grabowski
J Biol Chem. 2014 Oct 24; 289(43): 30063–30074. Published online 2014 Sep 8. doi: 10.1074/jbc.M114.593616
PMCID:
PMC4208013
AbstractArticlePDF–1.8M
10.
Functional analysis of 11 novel GBA alleles
Erika Malini, Serena Grossi, Marta Deganuto, Camillo Rosano, Rossella Parini, Silvia Dominisini, Roberta Cariati, Stefania Zampieri, Bruno Bembi, Mirella Filocamo, Andrea Dardis
Eur J Hum Genet. 2014 Apr; 22(4): 511–516. Published online 2013 Sep 11. doi: 10.1038/ejhg.2013.182
PMCID:
PMC3953908
AbstractArticlePDF–841K
11.
In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine
Simona Principe, E. Ellen Jones, Yunee Kim, Ankit Sinha, Julius O. Nyalwidhe, Jasmin Brooks, O. John Semmes, Dean A. Troyer, Raymond S. Lance, Thomas Kislinger, Richard R. Drake
Proteomics. Author manuscript; available in PMC 2014 May 1.
Published in final edited form as: Proteomics. 2013 May; 13(0): 1667–1671. Published online 2013 Apr 23. doi: 10.1002/pmic.201200561
PMCID:
PMC3773505
AbstractArticlePDF–630K
12.
Mitochondria and Quality Control Defects in a Mouse Model of Gaucher Disease—Links to Parkinson’s Disease
Laura D. Osellame, Ahad A. Rahim, Iain P. Hargreaves, Matthew E. Gegg, Angela Richard-Londt, Sebastian Brandner, Simon N. Waddington, Anthony H.V. Schapira, Michael R. Duchen
Cell Metab. 2013 Jun 4; 17(6): 941–953. doi: 10.1016/j.cmet.2013.04.014
PMCID:
PMC3678026
AbstractArticlePDF–3.2M
13.
Loss of β-Glucocerebrosidase Activity Does Not Affect Alpha-Synuclein Levels or Lysosomal Function in Neuronal Cells
Georgia Dermentzaki, Evangelia Dimitriou, Maria Xilouri, Helen Michelakakis, Leonidas Stefanis
PLoS One. 2013; 8(4): e60674. Published online 2013 Apr 8. doi: 10.1371/journal.pone.0060674
Correction in:
PLoS One. 2021; 16(6): e0252975.
PMCID:
PMC3620326
AbstractArticlePDF–1.1M
14.
Gaucher disease gene GBA functions in immune regulation
Jun Liu, Stephanie Halene, Mei Yang, Jameel Iqbal, Ruhua Yang, Wajahat Z. Mehal, Wei-Lien Chuang, Dhanpat Jain, Tony Yuen, Li Sun, Mone Zaidi, Pramod K. Mistry
Proc Natl Acad Sci U S A. 2012 Jun 19; 109(25): 10018–10023. Published online 2012 Jun 4. doi: 10.1073/pnas.1200941109
PMCID:
PMC3382552
AbstractArticlePDF–1.0M
15.
Glucocerebrosidase is present in α-synuclein inclusions in Lewy body disorders
Ozlem Goker-Alpan, Barbara K. Stubblefield, Benoit I. Giasson, Ellen Sidransky
Acta Neuropathol. Author manuscript; available in PMC 2012 May 15.
Published in final edited form as: Acta Neuropathol. 2010 Nov; 120(5): 641–649. Published online 2010 Sep 14. doi: 10.1007/s00401-010-0741-7
PMCID:
PMC3352317
AbstractArticlePDF–2.8M
16.
Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium
Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas
Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042
PMCID:
PMC3178059
AbstractArticlePDF–1.0M
17.
Gaucher’s Disease Glucocerebrosidase and <alpha>-synuclein form a bidirectional pathogenic loop in synucleinopathies
Joseph R. Mazzulli, You-Hai Xu, Ying Sun, Adam L. Knight, Pamela J. McLean, Guy A. Caldwell, Ellen Sidransky, Gregory A. Grabowski, Dimitri Krainc
Cell. Author manuscript; available in PMC 2012 Jul 8.
Published in final edited form as: Cell. 2011 Jul 8; 146(1): 37–52. Published online 2011 Jun 23. doi: 10.1016/j.cell.2011.06.001
PMCID:
PMC3132082
AbstractArticlePDF–5.4M
18.
Osteopenia in Gaucher disease develops early in life: Response to imiglucerase enzyme therapy in children, adolescents and adults
Pramod K. Mistry, Neal J. Weinreb, Paige Kaplan, J. Alexander Cole, Andrea R. Gwosdow, Thomas Hangartner
Blood Cells Mol Dis. Author manuscript; available in PMC 2011 Jan 12.
Published in final edited form as: Blood Cells Mol Dis. 2011 Jan 15; 46(1): 66–72. Published online 2010 Nov 26. doi: 10.1016/j.bcmd.2010.10.011
PMCID:
PMC3019260
AbstractArticlePDF–412K
19.
Glucocerebrosidase mutations are not a common risk factor for Parkinson disease in North Africa
Kenya Nishioka, Carles Vilariño-Güell, Stephanie A. Cobb, Jennifer M. Kachergus, Owen A. Ross, Christian Wider, Rachel A. Gibson, Faycal Hentati, Matthew J. Farrer
Neurosci Lett. Author manuscript; available in PMC 2011 Jun 21.
Published in final edited form as: Neurosci Lett. 2010 Jun 21; 477(2): 57–60. Published online 2009 Nov 27. doi: 10.1016/j.neulet.2009.11.066
PMCID:
PMC2970621
AbstractArticlePDF–40K
20.
The Pharmacological Chaperone Isofagomine Increases Activity of the Gaucher Disease L444P Mutant Form of β-Glucosidase
Richie Khanna, Elfrida R. Benjamin, Lee Pellegrino, Adriane Schilling, Brigitte A. Rigat, Rebecca Soska, Hadis Nafar, Brian E. Ranes, Jessie Feng, Yi Lun, Allan C. Powe, David J. Palling, Brandon A. Wustman, Raphael Schiffmann, Don J. Mahuran, David J. Lockhart, Kenneth J. Valenzano
FEBS J. Author manuscript; available in PMC 2011 Apr 1.
Published in final edited form as: FEBS J. 2010 Apr; 277(7): 1618–1638. Published online 2010 Feb 10. doi: 10.1111/j.1742-4658.2010.07588.x
PMCID:
PMC2874831
AbstractArticlePDF–1.9M

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