Lysosomal trafficking defects link Parkinson's disease with Gaucher's disease

A New Glucocerebrosidase Chaperone Reduces  -Synuclein and Glycolipid Levels in iPSC-Derived Dopaminergic Neurons from Patients with Gaucher Disease and Parkinsonism

(2016) E. Aflaki et al.   JOURNAL OF NEUROSCIENCE

Activation of  -Glucocerebrosidase Reduces Pathological  -Synuclein and Restores Lysosomal Function in Parkinson's Patient Midbrain Neurons

(2016) J. R. Mazzulli et al.   JOURNAL OF NEUROSCIENCE

Parkinson-associated risk variant in distal enhancer of α-synuclein modulates target gene expression

(2016) Frank Soldner et al.   NATURE

Identification of TMEM230 mutations in familial Parkinson's disease

(2016) Han-Xiang Deng et al.   NATURE GENETICS

Characterization of the complex formed by β-glucocerebrosidase and the lysosomal integral membrane protein type-2

(2016) Friederike Zunke et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

α-Synuclein–induced lysosomal dysfunction occurs through disruptions in protein trafficking in human midbrain synucleinopathy models

(2016) Joseph R. Mazzulli et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Sustained Systemic Glucocerebrosidase Inhibition Induces Brain α-Synuclein Aggregation, Microglia and Complement C1q Activation in Mice

(2015) Emily M. Rocha et al.   ANTIOXIDANTS & REDOX SIGNALING

Glucocerebrosidase activity in Parkinson’s disease with and withoutGBAmutations

(2015) Roy N. Alcalay et al.   BRAIN

Parkinson's disease

(2015) Lorraine V Kalia et al.   LANCET

Glucocerebrosidase gene therapy prevents α-synucleinopathy of midbrain dopamine neurons

(2015) Emily M. Rocha et al.   NEUROBIOLOGY OF DISEASE

Cysteine cathepsins are essential in lysosomal degradation of α-synuclein

(2015) Ryan P. McGlinchey et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Properties of Neurons Derived from Induced Pluripotent Stem Cells of Gaucher Disease Type 2 Patient Fibroblasts: Potential Role in Neuropathology

(2015) Ying Sun et al.   PLoS One

Glucocerebrosidase is shaking up the synucleinopathies

(2014) Marina Siebert et al.   BRAIN

Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease

(2014) Mike A Nalls et al.   NATURE GENETICS

LIMP-2 expression is critical for  -glucocerebrosidase activity and  -synuclein clearance

(2014) M. Rothaug et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

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

(2013) Suzanne Lesage et al.   ANNALS OF NEUROLOGY

Mitochondria and Quality Control Defects in a Mouse Model of Gaucher Disease—Links to Parkinson’s Disease

(2013) Laura D. Osellame et al.   Cell Metabolism

The role ofSCARB2as susceptibility factor in Parkinson's disease

(2013) Franziska Hopfner et al.   MOVEMENT DISORDERS

Alpha-synuclein p.H50Q, a novel pathogenic mutation for Parkinson's disease

(2013) Silke Appel-Cresswell et al.   MOVEMENT DISORDERS

A novel  -synuclein missense mutation in Parkinson disease

(2013) C. Proukakis et al.   NEUROLOGY

Synucleins Antagonize Endoplasmic Reticulum Function to Modulate Dopamine Transporter Trafficking

(2013) Adam W. Oaks et al.   PLoS One

Augmenting CNS glucocerebrosidase activity as a therapeutic strategy for parkinsonism and other Gaucher-related synucleinopathies

(2013) S. Pablo Sardi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Identification and Rescue of  -Synuclein Toxicity in Parkinson Patient-Derived Neurons

(2013) C. Y. Chung et al.   SCIENCE

Yeast Reveal a "Druggable" Rsp5/Nedd4 Network that Ameliorates  -Synuclein Toxicity in Neurons

(2013) D. F. Tardiff et al.   SCIENCE

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

Discovery, Structure–Activity Relationship, and Biological Evaluation of Noninhibitory Small Molecule Chaperones of Glucocerebrosidase

(2012) Samarjit Patnaik et al.   JOURNAL OF MEDICINAL CHEMISTRY

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

A Mutation in VPS35, Encoding a Subunit of the Retromer Complex, Causes Late-Onset Parkinson Disease

(2011) Alexander Zimprich et al.   AMERICAN JOURNAL OF HUMAN GENETICS

VPS35 Mutations in Parkinson Disease

(2011) Carles Vilariño-Güell et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

Genetic and Clinical Features of Progranulin-Associated Frontotemporal Lobar Degeneration

(2011) Alice S. Chen-Plotkin et al.   ARCHIVES OF NEUROLOGY

Generation of Isogenic Pluripotent Stem Cells Differing Exclusively at Two Early Onset Parkinson Point Mutations

(2011) Frank Soldner et al.   CELL

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

(2011) Joseph R. Mazzulli et al.   CELL

Pathogenic effects of novel mutations in the P-type ATPase ATP13A2 (PARK9) causing Kufor-Rakeb syndrome, a form of early-onset parkinsonism

(2011) Jin-Sung Park et al.   HUMAN MUTATION

Accumulation and distribution of α-synuclein and ubiquitin in the CNS of Gaucher disease mouse models

(2011) Y.H. Xu et al.   MOLECULAR GENETICS AND METABOLISM

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

α-Synuclein impairs macroautophagy: implications for Parkinson’s disease

(2010) Ashley R. Winslow et al.   JOURNAL OF CELL BIOLOGY

α-Synuclein Delays Endoplasmic Reticulum (ER)-to-Golgi Transport in Mammalian Cells by Antagonizing ER/Golgi SNAREs

(2010) Nandhakumar Thayanidhi et al.   MOLECULAR BIOLOGY OF THE CELL

 -Synuclein Promotes SNARE-Complex Assembly in Vivo and in Vitro

(2010) J. Burre et al.   SCIENCE

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

Phenotype, diagnosis, and treatment of Gaucher's disease

(2008) Gregory A Grabowski   LANCET