Gaucher Disease Glucocerebrosidase and α-Synuclein Form a Bidirectional Pathogenic Loop in Synucleinopathies

[1]  D. Krainc,et al.  Mitochondrial Parkin Recruitment Is Impaired in Neurons Derived from Mutant PINK1 Induced Pluripotent Stem Cells , 2011, The Journal of Neuroscience.

[2]  D. Witte,et al.  Accumulation and distribution of α-synuclein and ubiquitin in the CNS of Gaucher disease mouse models. , 2011, Molecular genetics and metabolism.

[3]  J. Stockman.  Multicenter Analysis of Glucocerebrosidase Mutations in Parkinson's Disease , 2011 .

[4]  J. Hay,et al.  α-Synuclein Delays Endoplasmic Reticulum (ER)-to-Golgi Transport in Mammalian Cells by Antagonizing ER/Golgi SNAREs , 2010, Molecular biology of the cell.

[5]  D. Krainc,et al.  Distinct Region-Specific α-Synuclein Oligomers in A53T Transgenic Mice: Implications for Neurodegeneration , 2010, The Journal of Neuroscience.

[6]  P. Mistry,et al.  The risk of Parkinson’s disease in type 1 Gaucher disease , 2010, Journal of Inherited Metabolic Disease.

[7]  J. Langston,et al.  Alpha-synuclein-glucocerebrosidase interactions in pharmacological Gaucher models: a biological link between Gaucher disease and parkinsonism. , 2009, Neurotoxicology.

[8]  M. Nalls,et al.  Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease. , 2009, The New England journal of medicine.

[9]  A. Singleton,et al.  Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease. , 2009, Brain : a journal of neurology.

[10]  A. Cuervo,et al.  Methods to monitor chaperone-mediated autophagy. , 2009, Methods in enzymology.

[11]  G. Grabowski.  Phenotype, diagnosis, and treatment of Gaucher's disease , 2008, The Lancet.

[12]  Songsong Cao,et al.  Hypothesis-based RNAi screening identifies neuroprotective genes in a Parkinson's disease model , 2008, Proceedings of the National Academy of Sciences.

[13]  H. Ischiropoulos,et al.  Cellular Oligomerization of α-Synuclein Is Determined by the Interaction of Oxidized Catechols with a C-terminal Sequence* , 2007, Journal of Biological Chemistry.

[14]  Min Zhu,et al.  GM1 Specifically Interacts with α-Synuclein and Inhibits Fibrillation† , 2007 .

[15]  Akira Nakashima,et al.  PHARMACOLOGY AND , 2006 .

[16]  J. Trojanowski,et al.  Glucocerebrosidase mutations are an important risk factor for Lewy body disorders , 2006, Neurology.

[17]  S. Lindquist,et al.  α-Synuclein Blocks ER-Golgi Traffic and Rab1 Rescues Neuron Loss in Parkinson's Models , 2006, Science.

[18]  Emmanuel Brouillet,et al.  Progressive and selective striatal degeneration in primary neuronal cultures using lentiviral vector coding for a mutant huntingtin fragment , 2005, Neurobiology of Disease.

[19]  Thomas C. Südhof,et al.  α-Synuclein Cooperates with CSPα in Preventing Neurodegeneration , 2005, Cell.

[20]  D. Witte,et al.  Gaucher disease mouse models: point mutations at the acid beta-glucosidase locus combined with low-level prosaposin expression lead to disease variants. , 2005, Journal of lipid research.

[21]  E. Sidransky.  Gaucher disease and parkinsonism. , 2005, Molecular genetics and metabolism.

[22]  R. Nussbaum,et al.  Parkinsonism among Gaucher disease carriers , 2004, Journal of Medical Genetics.

[23]  D. Lynch,et al.  Functional Consequences of α-Synuclein Tyrosine Nitration , 2004, Journal of Biological Chemistry.

[24]  J. Allman,et al.  Neuropathology provides clues to the pathophysiology of Gaucher disease. , 2004, Molecular genetics and metabolism.

[25]  S. Withers,et al.  Pharmacological Enhancement of β-Hexosaminidase Activity in Fibroblasts from Adult Tay-Sachs and Sandhoff Patients* , 2004, Journal of Biological Chemistry.

[26]  D. Witte,et al.  Viable Mouse Models of Acid β-Glucosidase Deficiency , 2003 .

[27]  P. Lansbury,et al.  Zeroing in on the pathogenic form of alpha-synuclein and its mechanism of neurotoxicity in Parkinson's disease. , 2003, Biochemistry.

[28]  R. Schiffmann,et al.  Gaucher disease with parkinsonian manifestations: does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism? , 2003, Molecular genetics and metabolism.

[29]  Carl W. Cotman,et al.  Common Structure of Soluble Amyloid Oligomers Implies Common Mechanism of Pathogenesis , 2003, Science.

[30]  J. Trojanowski,et al.  Parkinson's disease and related synucleinopathies are a new class of nervous system amyloidoses. , 2002, Neurotoxicology.

[31]  J. Marshall,et al.  Demonstration of feasibility of in vivo gene therapy for Gaucher disease using a chemically induced mouse model. , 2002, Molecular therapy : the journal of the American Society of Gene Therapy.

[32]  J. Trojanowski,et al.  Novel antibodies to synuclein show abundant striatal pathology in Lewy body diseases , 2002, Annals of neurology.

[33]  J. Trojanowski,et al.  Neuronal α-Synucleinopathy with Severe Movement Disorder in Mice Expressing A53T Human α-Synuclein , 2002, Neuron.

[34]  John Q. Trojanowski,et al.  Chaperone Suppression of α-Synuclein Toxicity in a Drosophila Model for Parkinson's Disease , 2001, Science.

[35]  D. Krasnewich,et al.  Gaucher disease and parkinsonism: a phenotypic and genotypic characterization. , 2001, Molecular genetics and metabolism.

[36]  J Q Trojanowski,et al.  Synucleinopathies: clinical and pathological implications. , 2001, Archives of neurology.

[37]  J Q Trojanowski,et al.  A Hydrophobic Stretch of 12 Amino Acid Residues in the Middle of α-Synuclein Is Essential for Filament Assembly* , 2001, The Journal of Biological Chemistry.

[38]  E. Sidransky,et al.  Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease , 2000, Human mutation.

[39]  Y. Arsenijévic,et al.  Self-inactivating lentiviral vectors with enhanced transgene expression as potential gene transfer system in Parkinson's disease. , 2000, Human gene therapy.

[40]  Peter T. Lansbury,et al.  Accelerated in vitro fibril formation by a mutant α-synuclein linked to early-onset Parkinson disease , 1998, Nature Medicine.

[41]  Nir Giladi,et al.  Occurrence of Parkinson's syndrome in type I Gaucher disease. , 1996, QJM : monthly journal of the Association of Physicians.

[42]  N. Munakata.  [Genetics of Caenorhabditis elegans]. , 1989, Tanpakushitsu kakusan koso. Protein, nucleic acid, enzyme.

[43]  R. Scheller,et al.  Synuclein: a neuron-specific protein localized to the nucleus and presynaptic nerve terminal , 1988, The Journal of neuroscience : the official journal of the Society for Neuroscience.

[44]  E. Ginns,et al.  Biosynthesis of the lysosomal enzyme glucocerebrosidase. , 1985, The Journal of biological chemistry.

[45]  R. E. Lee.  The fine structure of the cerebroside occurring in Gaucher's disease. , 1968, Proceedings of the National Academy of Sciences of the United States of America.

[46]  L. Stryer,et al.  The interaction of a naphthalene dye with apomyoglobin and apohemoglobin. A fluorescent probe of non-polar binding sites. , 1965, Journal of molecular biology.

[47]  R. Brady,et al.  THE METABOLISM OF GLUCOCEREBROSIDES. I. PURIFICATION AND PROPERTIES OF A GLUCOCEREBROSIDE-CLEAVING ENZYME FROM SPLEEN TISSUE. , 1965, The Journal of biological chemistry.