Glucocerebrosidase deficiency accelerates the accumulation of proteinase K-resistant α-synuclein and aggravates neurodegeneration in aDrosophilamodel of Parkinson's disease

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

(2014) Ianai Fishbein et al.   BRAIN

iPSC-derived neurons from GBA1-associated Parkinson’s disease patients show autophagic defects and impaired calcium homeostasis

(2014) David C. Schöndorf et al.   Nature Communications

Distinct α-Synuclein Strains Differentially Promote Tau Inclusions in Neurons

(2013) Jing L. Guo et al.   CELL

Neuronal accumulation of glucosylceramide in a mouse model of neuronopathic Gaucher disease leads to neurodegeneration

(2013) T. Farfel-Becker et al.   HUMAN MOLECULAR GENETICS

Advances in the genetics of Parkinson disease

(2013) Joanne Trinh et al.   Nature Reviews Neurology

Unfolded protein response in Gaucher disease: from human to Drosophila

(2013) Gali Maor et al.   Orphanet Journal of Rare Diseases

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

(2013) Georgia Dermentzaki et al.   PLoS One

Expression of Human Gaucher Disease Gene GBA Generates Neurodevelopmental Defects and ER Stress in Drosophila Eye

(2013) Takahiro Suzuki et al.   PLoS One

Structural and functional characterization of two alpha-synuclein strains

(2013) Luc Bousset et al.   Nature Communications

A Multicenter Study of Glucocerebrosidase Mutations in Dementia With Lewy Bodies

(2013) Michael A. Nalls et al.   JAMA Neurology

Glucocerebrosidase deficiency in substantia nigra of parkinson disease brains

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

Ambroxol as a pharmacological chaperone for mutant glucocerebrosidase

(2012) Inna Bendikov-Bar et al.   BLOOD CELLS MOLECULES AND DISEASES

Direct Observation of the Interconversion of Normal and Toxic Forms of α-Synuclein

(2012) Nunilo Cremades et al.   CELL

Glucocerebrosidase Mutations alter the endoplasmic reticulum and lysosomes in Lewy body disease

(2012) Marzena Kurzawa-Akanbi et al.   JOURNAL OF NEUROCHEMISTRY

Accumulation of Toxic  -Synuclein Oligomer within Endoplasmic Reticulum Occurs in  -Synucleinopathy In Vivo

(2012) E. Colla et al.   JOURNAL OF NEUROSCIENCE

Endoplasmic Reticulum Stress Is Important for the Manifestations of  -Synucleinopathy In Vivo

(2012) E. Colla et al.   JOURNAL OF NEUROSCIENCE

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

(2012) Assimina Argyriou et al.   NEUROSCIENCE LETTERS

Pathological  -Synuclein Transmission Initiates Parkinson-like Neurodegeneration in Nontransgenic Mice

(2012) K. C. Luk et al.   SCIENCE

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

Glucosylceramide synthase in the fat body controls energy metabolism inDrosophila

(2011) Ayako Kohyama-Koganeya et al.   JOURNAL OF LIPID RESEARCH

Improved Immunodetection of Endogenous α-Synuclein

(2011) Byung Rho Lee et al.   PLoS One

Proteinase K-resistant α-synuclein is deposited in presynapses in human Lewy body disease and A53T α-synuclein transgenic mice

(2010) Kunikazu Tanji et al.   ACTA NEUROPATHOLOGICA

Cerebroside-β-glucosidase activity in Gaucher brain

(2010) Lars Svennerholm et al.   CLINICAL GENETICS

Lysosomal Degradation of α-Synucleinin Vivo

(2010) Sally K. Mak et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The risk of Parkinson’s disease in type 1 Gaucher disease

(2010) Gilberto Bultron et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Induction of the unfolded protein response by α-synuclein in experimental models of Parkinson’s disease

(2010) Arianna Bellucci et al.   JOURNAL OF NEUROCHEMISTRY

Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease

(2009) Juliane Neumann et al.   BRAIN

Ubiquitin Carboxyl-Terminal Hydrolase L3 Promotes Insulin Signaling and Adipogenesis

(2009) Mari Suzuki et al.   ENDOCRINOLOGY

Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease

(2009) Wataru Satake et al.   NATURE GENETICS

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

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

Alpha-synuclein-glucocerebrosidase interactions in pharmacological Gaucher models: A biological link between Gaucher disease and parkinsonism

(2009) Amy B. Manning-Boğ et al.   NEUROTOXICOLOGY

Multicenter Analysis of Glucocerebrosidase Mutations in Parkinson's Disease

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

Inclusion formation and neuronal cell death through neuron-to-neuron transmission of  -synuclein

(2009) P. Desplats et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

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