Augmentation of phenotype in a transgenic Parkinson mouse heterozygous for a Gaucher mutation

Glucocerebrosidase is shaking up the synucleinopathies

(2014) Marina Siebert et al.   BRAIN

G51D α-synuclein mutation causes a novel Parkinsonian-pyramidal syndrome

(2013) Suzanne Lesage et al.   ANNALS OF NEUROLOGY

Neuroinflammation and α-synuclein accumulation in response to glucocerebrosidase deficiency are accompanied by synaptic dysfunction

(2013) Edward I. Ginns et al.   MOLECULAR GENETICS AND METABOLISM

A novel  -synuclein missense mutation in Parkinson disease

(2013) C. Proukakis et al.   NEUROLOGY

Loss of β-Glucocerebrosidase Activity Does Not Affect Alpha-Synuclein Levels or Lysosomal Function in Neuronal Cells

(2013) Georgia Dermentzaki et al.   PLoS One

Glucocerebrosidase deficiency in substantia nigra of parkinson disease brains

(2012) Matthew E. Gegg et al.   ANNALS OF NEUROLOGY

Antibody-Aided Clearance of Extracellular  -Synuclein Prevents Cell-to-Cell Aggregate Transmission

(2012) E.-J. Bae et al.   JOURNAL OF NEUROSCIENCE

Membrane-bound α-synuclein interacts with glucocerebrosidase and inhibits enzyme activity

(2012) Thai Leong Yap et al.   MOLECULAR GENETICS AND METABOLISM

Glucocerebrosidase inhibition causes mitochondrial dysfunction and free radical damage

(2012) Michael W.J. Cleeter et al.   NEUROCHEMISTRY INTERNATIONAL

Increased dimerization of alpha-synuclein in erythrocytes in Gaucher disease and aging

(2012) Assimina Argyriou et al.   NEUROSCIENCE LETTERS

Acid β-glucosidase mutants linked to gaucher disease, parkinson disease, and lewy body dementia alter α-synuclein processing

(2011) Valerie Cullen et al.   ANNALS OF NEUROLOGY

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

(2011) Joseph R. Mazzulli et al.   CELL

Ex Vivoandin VivoEffects of Isofagomine on Acid β-Glucosidase Variants and Substrate Levels in Gaucher Disease

(2011) Ying Sun et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Regulation of α-synuclein expression in cultured cortical neurons

(2011) Richard Lee Clough et al.   JOURNAL OF NEUROCHEMISTRY

What Genetics Tells us About the Causes and Mechanisms of Parkinson's Disease

(2011) Olga Corti et al.   PHYSIOLOGICAL REVIEWS

CNS expression of glucocerebrosidase corrects  -synuclein pathology and memory in a mouse model of Gaucher-related synucleinopathy

(2011) S. P. Sardi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Exploring the link between glucocerebrosidase mutations and parkinsonism

(2011) Wendy Westbroek et al.   TRENDS IN MOLECULAR MEDICINE

Synphilin-1 inhibits alpha-synuclein degradation by the proteasome

(2010) Beatriz Alvarez-Castelao et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Extensive enteric nervous system abnormalities in mice transgenic for artificial chromosomes containing Parkinson disease-associated α-synuclein gene mutations precede central nervous system changes

(2010) Yien-Ming Kuo et al.   HUMAN MOLECULAR GENETICS

Phosphorylated α-Synuclein at Ser-129 Is Targeted to the Proteasome Pathway in a Ubiquitin-independent Manner

(2010) Youhei Machiya et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Neuropathology of sporadic Parkinson disease before the appearance of parkinsonism: preclinical Parkinson disease

(2010) Isidre Ferrer et al.   JOURNAL OF NEURAL TRANSMISSION

A novel, high-efficiency cellular model of fibrillar α-synuclein inclusions and the examination of mutations that inhibit amyloid formation

(2010) Elisa A. Waxman et al.   JOURNAL OF NEUROCHEMISTRY

No evidence for activation of the unfolded protein response in neuronopathic models of Gaucher disease

(2009) T. Farfel-Becker et al.   HUMAN MOLECULAR GENETICS

Parkinson's disease: Before the motor symptoms and beyond

(2009) Amos D. Korczyn et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Genome-wide association study reveals genetic risk underlying Parkinson's disease

(2009) Javier Simón-Sánchez et al.   NATURE GENETICS

Multicenter Analysis of Glucocerebrosidase Mutations in Parkinson's Disease

(2009) E. Sidransky et al.   NEW ENGLAND JOURNAL OF MEDICINE

Characterization of antibodies that selectively detect α-synuclein in pathological inclusions

(2008) Elisa A. Waxman et al.   ACTA NEUROPATHOLOGICA

Optimization and Validation of Two Miniaturized Glucocerebrosidase Enzyme Assays for High Throughput Screening

(2008) Daniel Urban et al.   COMBINATORIAL CHEMISTRY & HIGH THROUGHPUT SCREENING

Wild Type α-Synuclein Is Degraded by Chaperone-mediated Autophagy and Macroautophagy in Neuronal Cells

(2008) Tereza Vogiatzi et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Characterization of Conformational and Dynamic Properties of Natively Unfolded Human and Mouse α-Synuclein Ensembles by NMR: Implication for Aggregation

(2008) Kuen-Phon Wu et al.   JOURNAL OF MOLECULAR BIOLOGY

Phenotype, diagnosis, and treatment of Gaucher's disease

(2008) Gregory A Grabowski   LANCET