Glucocerebrosidase mutations and the pathogenesis of Parkinson disease

Lysosomal storage diseases as disorders of autophagy

(2014) Carmine Settembre et al.   Autophagy

Glucocerebrosidase Mutations in a French-Canadian Parkinson's Disease Cohort

(2014) Anne Noreau et al.   CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES

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

Glucosylceramidase degradation in fibroblasts carrying bi-allelic Parkin mutations

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

Lysosomal impairment in Parkinson's disease

(2013) Benjamin Dehay et al.   MOVEMENT DISORDERS

Interplay of LRRK2 with chaperone-mediated autophagy

(2013) Samantha J Orenstein et al.   NATURE NEUROSCIENCE

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

Glucocerebrosidase L444P mutation confers genetic risk for Parkinson’s disease in central China

(2012) Youpei Wang et al.   Behavioral and Brain Functions

Phenotype in patients with Gaucher disease and Parkinson disease

(2012) Eli Ben Chetrit et al.   BLOOD CELLS MOLECULES AND DISEASES

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

Glucocerebrosidasemutations in a Serbian Parkinson's disease population

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

Age-specific Parkinson disease risk in GBA mutation carriers: information for genetic counseling

(2012) Huma Q. Rana et al.   GENETICS IN MEDICINE

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

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

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

The glucocerobrosidase E326K variant predisposes to Parkinson's disease, but does not cause Gaucher's disease

(2012) Raquel Duran et al.   MOVEMENT DISORDERS

Glucocerebrosidase inhibition causes mitochondrial dysfunction and free radical damage

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

Penetrance of Parkinson disease in glucocerebrosidase gene mutation carriers

(2012) M. Anheim et al.   NEUROLOGY

Cognitive performance of GBA mutation carriers with early-onset PD: The CORE-PD study

(2012) R. N. Alcalay et al.   NEUROLOGY

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

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

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

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

Glucocerebrosidase mutations do not cause increased Lewy body pathology in Parkinson's disease

(2011) Laura Parkkinen et al.   MOLECULAR GENETICS AND METABOLISM

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

Cerebrospinal fluid fatty acids in glucocerebrosidase-associated Parkinson's disease

(2011) Stefan P. Schmid et al.   MOVEMENT DISORDERS

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

Mutations in the glucocerebrosidase gene confer a risk for Parkinson disease in North Africa

(2011) S. Lesage et al.   NEUROLOGY

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

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

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

When Does Parkinson Disease Start?

(2010) Rodolfo Savica et al.   ARCHIVES OF NEUROLOGY

Chaperone-Mediated Autophagy Markers in Parkinson Disease Brains

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

A monozygotic twin pair with highly discordant Gaucher phenotypes

(2010) M. Biegstraaten et al.   BLOOD CELLS MOLECULES AND DISEASES

The incidence of Parkinsonism in patients with type 1 Gaucher disease: Data from the ICGG Gaucher Registry

(2010) Barry Rosenbloom et al.   BLOOD CELLS MOLECULES AND DISEASES

The Role of Glucocerebrosidase Mutations in Parkinson Disease and Lewy Body Disorders

(2010) Arash Velayati et al.   Current Neurology and Neuroscience Reports

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

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

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

Pathogenic Lysosomal Depletion in Parkinson's Disease

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

Deregulated Sphingolipid Metabolism and Membrane Organization in Neurodegenerative Disorders

(2010) Marco Piccinini et al.   MOLECULAR NEUROBIOLOGY

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

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

Functional brain imaging in glucocerebrosidase mutation carriers with and without Parkinsonism

(2010) Satoshi Kono et al.   MOVEMENT DISORDERS

Gaucher disease ascertained through a Parkinson's center: Imaging and clinical characterization

(2010) Rachel Saunders-Pullman et al.   MOVEMENT DISORDERS

Autophagy gone awry in neurodegenerative diseases

(2010) Esther Wong et al.   NATURE NEUROSCIENCE

Molecular and clinical prodrome of Parkinson disease: implications for treatment

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

Life-long increase of substantia nigra hyperechogenicity in transcranial sonography

(2010) Johann Hagenah et al.   NEUROIMAGE

Loss of leucine-rich repeat kinase 2 causes impairment of protein degradation pathways, accumulation of  -synuclein, and apoptotic cell death in aged mice

(2010) Y. Tong et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Autophagy, a guardian against neurodegeneration

(2010) Moisés García-Arencibia et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

Association of Glucocerebrosidase Mutations With Dementia With Lewy Bodies

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

Mutations for Gaucher Disease Confer High Susceptibility to Parkinson Disease

(2009) Jun Mitsui et al.   ARCHIVES OF NEUROLOGY

Differential phenotype in Parkinson's disease patients with severe versus mild GBA mutations

(2009) Z. Gan-Or et al.   BRAIN

Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease

(2009) Juliane Neumann et al.   BRAIN

Essential role of the unfolded protein response regulator GRP78/BiP in protection from neuronal apoptosis

(2009) M Wang et al.   CELL DEATH AND DIFFERENTIATION

Glucocerebrosidase mutations p.L444P and p.N370S are not associated with multisystem atrophy, progressive supranuclear palsy and corticobasal degeneration in Polish patients

(2009) Zygmunt Jamrozik et al.   JOURNAL OF NEUROLOGY

Beclin 1 Gene Transfer Activates Autophagy and Ameliorates the Neurodegenerative Pathology in  -Synuclein Models of Parkinson's and Lewy Body Diseases

(2009) B. Spencer et al.   JOURNAL OF NEUROSCIENCE

Parkinson's disease

(2009) Andrew J Lees et al.   LANCET

Autophagy Inhibition Compromises Degradation of Ubiquitin-Proteasome Pathway Substrates

(2009) Viktor I. Korolchuk et al.   MOLECULAR CELL

GLUCOCEREBROSIDASE MUTATIONS IN 108 NEUROPATHOLOGICALLY CONFIRMED CASES OF MULTIPLE SYSTEM ATROPHY

(2009) B. Segarane et al.   NEUROLOGY

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

The Spectrum of Parkinsonian Manifestations Associated With Glucocerebrosidase Mutations

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

PINK1 controls mitochondrial localization of Parkin through direct phosphorylation

(2008) Yongsung Kim et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Genetic susceptibility in Parkinson's disease

(2008) Jose Miguel Bras et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

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

(2008) Jose Bras et al.   FEBS Journal

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

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

Parkin is recruited selectively to impaired mitochondria and promotes their autophagy

(2008) Derek Narendra et al.   JOURNAL OF CELL BIOLOGY

Phenotype, diagnosis, and treatment of Gaucher's disease

(2008) Gregory A Grabowski   LANCET

Transcranial sonography in movement disorders

(2008) Daniela Berg et al.   LANCET NEUROLOGY

Mitochondria in the aetiology and pathogenesis of Parkinson's disease

(2008) Anthony HV Schapira   LANCET NEUROLOGY

Mutations in GBA are associated with familial Parkinson disease susceptibility and age at onset

(2008) W. C. Nichols et al.   NEUROLOGY

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

(2008) Z. Gan-Or et al.   NEUROLOGY

The PINK1/Parkin pathway regulates mitochondrial morphology

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

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

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

Association between Parkinson's disease and glucocerebrosidase mutations in Brazil

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