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

Intracerebroventricular delivery of glucocerebrosidase reduces substrates and increases lifespan in a mouse model of neuronopathic Gaucher disease

(2010) M.A. Cabrera-Salazar et al.   EXPERIMENTAL NEUROLOGY

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

Neuronopathic Gaucher disease in the mouse: viable combined selective saposin C deficiency and mutant glucocerebrosidase (V394L) mice with glucosylsphingosine and glucosylceramide accumulation and progressive neurological deficits

(2010) Y. Sun et al.   HUMAN MOLECULAR GENETICS

Interaction between parkin and mutant glucocerebrosidase variants: a possible link between Parkinson disease and Gaucher disease

(2010) I. Ron et al.   HUMAN MOLECULAR GENETICS

Association of Glucocerebrosidase Mutations With Dementia With Lewy Bodies

(2009) Lorraine N. Clark et al.   ARCHIVES OF NEUROLOGY

Expansion of the Parkinson disease-associated SNCA- Rep1 allele upregulates human α-synuclein in transgenic mouse brain

(2009) Kenneth D. Cronin et al.   HUMAN MOLECULAR 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

Cathepsin D expression level affects alpha-synuclein processing, aggregation, and toxicity in vivo

(2009) Valerie Cullen et al.   Molecular Brain

Glucocerebrosidase Gene Mutations

(2008) Ignacio F. Mata et al.   ARCHIVES OF NEUROLOGY

Cathepsin D Is the Main Lysosomal Enzyme Involved in the Degradation of α-Synuclein and Generation of Its Carboxy-Terminally Truncated Species†

(2008) Daniel Sevlever et al.   BIOCHEMISTRY

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

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

Direct quantification of CSF α-synuclein by ELISA and first cross-sectional study in patients with neurodegeneration

(2008) Brit Mollenhauer et al.   EXPERIMENTAL NEUROLOGY

Emerging pathways in genetic Parkinson's disease: Potential role of ceramide metabolism in Lewy body disease

(2008) Jose Bras et al.   FEBS Journal

GATA transcription factors directly regulate the Parkinson's disease-linked gene  -synuclein

(2008) C. R. Scherzer et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Lysosomal enzyme cathepsin D protects against alpha-synuclein aggregation and toxicity

(2008) Liyan Qiao et al.   Molecular Brain