The relationship between glucocerebrosidase mutations and Parkinson disease

No evidence for substrate accumulation in Parkinson brains withGBAmutations

(2015) Matthew E. Gegg et al.   MOVEMENT DISORDERS

Evolution of Prodromal Clinical Markers of Parkinson Disease in aGBAMutation–Positive Cohort

(2015) Michelle Beavan et al.   JAMA Neurology

Gaucher Disease and Its Treatment Options

(2014) Lunawati L. Bennett et al.   ANNALS OF PHARMACOTHERAPY

Visual short-term memory deficits associated with GBA mutation and Parkinson’s disease

(2014) Nahid Zokaei et al.   BRAIN

Ambroxol improves lysosomal biochemistry in glucocerebrosidase mutation-linked Parkinson disease cells

(2014) Alisdair McNeill et al.   BRAIN

Multiple pathogenic proteins implicated in neuronopathic Gaucher disease mice

(2014) You-hai Xu et al.   HUMAN MOLECULAR GENETICS

Mutations in the glucocerebrosidase gene are responsible for Chinese patients with Parkinson’s disease

(2014) Zhe Yu et al.   JOURNAL OF HUMAN GENETICS

A GCase Chaperone Improves Motor Function in a Mouse Model of Synucleinopathy

(2014) Franziska Richter et al.   Neurotherapeutics

Glucocerebrosidase mutations in primary parkinsonism

(2014) Rosanna Asselta et al.   PARKINSONISM & RELATED DISORDERS

Glucocerebrosidase mutations in Thai patients with Parkinson's disease

(2014) Teeratorn Pulkes et al.   PARKINSONISM & RELATED DISORDERS

Transgenic mice expressing human glucocerebrosidase variants: Utility for the study of Gaucher disease

(2013) Angela Sanders et al.   BLOOD CELLS MOLECULES AND DISEASES

Glucocerebrosidase mutations influence the natural history of Parkinson’s disease in a community-based incident cohort

(2013) Sophie E. Winder-Rhodes et al.   BRAIN

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

Association of Common Variants in the Glucocerebrosidase Gene with High Susceptibility to Parkinson's Disease among Chinese

(2013) Xiong Zhang   CHINESE JOURNAL OF PHYSIOLOGY

The L444PGBAmutation is associated with early-onset Parkinson's disease in Mexican Mestizos

(2013) M de L González-del Rincón et al.   CLINICAL GENETICS

The Association Between ß-Glucocerebrosidase Mutations and Parkinsonism

(2013) Matthew Swan et al.   Current Neurology and Neuroscience Reports

Retinal thinning in Gaucher disease patients and carriers: Results of a pilot study

(2013) Alisdair McNeill et al.   MOLECULAR GENETICS AND METABOLISM

Genotype and phenotype in Parkinson's disease: Lessons in heterogeneity from deep brain stimulation

(2013) Aikaterina Angeli et al.   MOVEMENT DISORDERS

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

(2013) Georgia Dermentzaki et al.   PLoS One

Dopaminergic Neuronal Imaging in Genetic Parkinson's Disease: Insights into Pathogenesis

(2013) Alisdair McNeill et al.   PLoS One

Glucocerebrosidase in the pathogenesis and treatment of Parkinson disease: Fig. 1.

(2013) Anthony H. V. Schapira et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

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

The neurobiology of glucocerebrosidase-associated parkinsonism: a positron emission tomography study of dopamine synthesis and regional cerebral blood flow

(2012) Ozlem Goker-Alpan et al.   BRAIN

The chaperone activity and toxicity of ambroxol on Gaucher cells and normal mice

(2012) Zhuo Luan et al.   BRAIN & DEVELOPMENT

Glucocerebrosidasemutations in a Serbian Parkinson's disease population

(2012) K. R. Kumar et al.   EUROPEAN JOURNAL 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

A clinical and family history study of Parkinson's disease in heterozygousglucocerebrosidasemutation carriers

(2012) Alisdair McNeill et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

The link between the GBA gene and parkinsonism

(2012) Ellen Sidransky et al.   LANCET NEUROLOGY

Two phosphatidylinositol 4-kinases control lysosomal delivery of the Gaucher disease enzyme, β-glucocerebrosidase

(2012) Marko Jović et al.   MOLECULAR BIOLOGY OF THE CELL

Hyposmia and cognitive impairment in Gaucher disease patients and carriers

(2012) Alisdair McNeill et al.   MOVEMENT DISORDERS

Glucocerebrosidase inhibition causes mitochondrial dysfunction and free radical damage

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

Association of mutations in the glucocerebrosidase gene with Parkinson disease in a Korean population

(2012) Jung Mi Choi 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

Contribution of glucocerebrosidase mutation in a large cohort of sporadic Parkinson’s disease in Taiwan

(2011) C.-L. Huang et al.   EUROPEAN JOURNAL OF NEUROLOGY

α-Synuclein Interacts with Glucocerebrosidase Providing a Molecular Link between Parkinson and Gaucher Diseases

(2011) Thai Leong Yap et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Sphingolipid Storage Affects Autophagic Metabolism of the Amyloid Precursor Protein and Promotes A  Generation

(2011) I. Y. Tamboli et al.   JOURNAL OF NEUROSCIENCE

β-Glucocerebrosidase gene mutations in two cohorts of Greek patients with sporadic Parkinson's disease

(2011) Marina Moraitou et al.   MOLECULAR GENETICS AND METABOLISM

Glucocerebrosidase gene mutations are associated with Parkinson's disease in Russia

(2011) Anton Emelyanov et al.   MOVEMENT DISORDERS

Glucocerebrosidase mutations confer a greater risk of dementia during Parkinson's disease course

(2011) Núria Setó-Salvia et al.   MOVEMENT DISORDERS

GBA-associated PD presents with nonmotor characteristics

(2011) K. Brockmann et al.   NEUROLOGY

Exploring the link between glucocerebrosidase mutations and parkinsonism

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

Glucocerebrosidase is present in α-synuclein inclusions in Lewy body disorders

(2010) Ozlem Goker-Alpan et al.   ACTA NEUROPATHOLOGICA

Chaperone-Mediated Autophagy Markers in Parkinson Disease Brains

(2010) Lydia Alvarez-Erviti et al.   ARCHIVES OF NEUROLOGY

Lysosomal membrane permeabilization in Parkinson disease

(2010) Miquel Vila et al.   Autophagy

Characterization of the ERAD process of the L444P mutant glucocerebrosidase variant

(2010) Inna Bendikov-Bar et al.   BLOOD CELLS MOLECULES AND DISEASES

Association of the glucocerebrosidase N370S allele with Parkinson’s disease in two separate Chinese Han populations of mainland China

(2010) F.-Y. Hu et al.   EUROPEAN JOURNAL OF NEUROLOGY

Saposin C mutations in Gaucher disease patients resulting in lysosomal lipid accumulation, saposin C deficiency, but normal prosaposin processing and sorting

(2010) A. M. Vaccaro 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

Large-scale screening of the Gaucher's disease-related glucocerebrosidase gene in Europeans with Parkinson's disease

(2010) Suzanne Lesage et al.   HUMAN MOLECULAR GENETICS

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

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

Pathogenic Lysosomal Depletion in Parkinson's Disease

(2010) B. Dehay et al.   JOURNAL OF NEUROSCIENCE

Glucocerebrosidase Gene L444P mutation is a risk factor for Parkinson's disease in Chinese population

(2010) Qi-Ying Sun et al.   MOVEMENT DISORDERS

Molecular and clinical prodrome of Parkinson disease: implications for treatment

(2010) Anthony H. V. Schapira et al.   Nature Reviews Neurology

Association of Glucocerebrosidase Mutations With Dementia With Lewy Bodies

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

Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease

(2009) Juliane Neumann et al.   BRAIN

Parkinson's disease: from monogenic forms to genetic susceptibility factors

(2009) S. Lesage et al.   HUMAN MOLECULAR GENETICS

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

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

Identification and Characterization of Ambroxol as an Enzyme Enhancement Agent for Gaucher Disease

(2009) Gustavo H. B. Maegawa et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Alterations in lysosomal and proteasomal markers in Parkinson's disease: Relationship to alpha-synuclein inclusions

(2009) Yaping Chu et al.   NEUROBIOLOGY OF DISEASE

Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Greece

(2009) Kallirhoe Kalinderi et al.   NEUROSCIENCE LETTERS

Association between GBA L444P mutation and sporadic Parkinson's disease from Mainland China

(2009) X.-Y. Mao et al.   NEUROSCIENCE LETTERS

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

Abberant α-Synuclein Confers Toxicity to Neurons in Part through Inhibition of Chaperone-Mediated Autophagy

(2009) Maria Xilouri et al.   PLoS One

Glucocerebrosidase Gene Mutations

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

The Spectrum of Parkinsonian Manifestations Associated With Glucocerebrosidase Mutations

(2008) Ozlem Goker-Alpan et al.   ARCHIVES OF NEUROLOGY

Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA)

(2008) Kathleen S. Hruska et al.   HUMAN MUTATION

Phenotype, diagnosis, and treatment of Gaucher's disease

(2008) Gregory A Grabowski   LANCET

Mitochondria in the aetiology and pathogenesis of Parkinson's disease

(2008) Anthony HV Schapira   LANCET NEUROLOGY

Genotype-phenotype correlations between GBA mutations and Parkinson disease risk and onset

(2008) Z. Gan-Or et al.   NEUROLOGY

Glucocerebrosidase gene mutations are associated with Parkinson's disease in southern Italy

(2007) Elvira V. De Marco et al.   MOVEMENT DISORDERS

Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Portugal

(2007) Jose Bras et al.   NEUROBIOLOGY OF AGING

Association between Parkinson's disease and glucocerebrosidase mutations in Brazil

(2007) Mariana Spitz et al.   PARKINSONISM & RELATED DISORDERS