Glucocerebrosidase modulates cognitive and motor activities in murine models of Parkinson’s disease

Endoplasmic reticulum and lysosomal Ca2+ stores are remodelled in GBA1-linked Parkinson disease patient fibroblasts

(2016) Bethan S. Kilpatrick et al.   CELL CALCIUM

Glucocerebrosidase activity in Parkinson’s disease with and withoutGBAmutations

(2015) Roy N. Alcalay et al.   BRAIN

Altered TFEB-mediated lysosomal biogenesis in Gaucher disease iPSC-derived neuronal cells

(2015) Ola Awad et al.   HUMAN MOLECULAR GENETICS

Brain-derived neurotrophic factor expression increases after enzyme replacement therapy in Gaucher disease

(2015) Filippo Vairo et al.   JOURNAL OF NEUROIMMUNOLOGY

Lipid vesicles trigger α-synuclein aggregation by stimulating primary nucleation

(2015) Céline Galvagnion et al.   Nature Chemical Biology

Dopaminergic control of autophagic-lysosomal function implicates Lmx1b in Parkinson's disease

(2015) Ariadna Laguna et al.   NATURE NEUROSCIENCE

Differential effects of severe vs mild GBA mutations on Parkinson disease

(2015) Z. Gan-Or et al.   NEUROLOGY

Gaucher-related synucleinopathies: The examination of sporadic neurodegeneration from a rare (disease) angle

(2015) S. Pablo Sardi et al.   PROGRESS IN NEUROBIOLOGY

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

(2015) Michelle Beavan et al.   JAMA Neurology

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

(2014) Ianai Fishbein et al.   BRAIN

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

(2014) Nahid Zokaei et al.   BRAIN

Silencing Mutant Huntingtin by Adeno-Associated Virus-Mediated RNA Interference Ameliorates Disease Manifestations in the YAC128 Mouse Model of Huntington's Disease

(2014) Lisa M. Stanek et al.   HUMAN GENE THERAPY

Multiple pathogenic proteins implicated in neuronopathic Gaucher disease mice

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

GBA-associated Parkinson's disease: Reduced survival and more rapid progression in a prospective longitudinal study

(2014) Kathrin Brockmann et al.   MOVEMENT DISORDERS

RIPK3 as a potential therapeutic target for Gaucher's disease

(2014) Einat B Vitner et al.   NATURE MEDICINE

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

Comparison of Parkinson Risk in Ashkenazi Jewish Patients With Gaucher Disease andGBAHeterozygotes

(2014) Roy N. Alcalay et al.   JAMA Neurology

Glucocerebrosidase mutations and the pathogenesis of Parkinson disease

(2013) Michelle S. Beavan et al.   ANNALS OF MEDICINE

Time course and progression of wild type α-Synuclein accumulation in a transgenic mouse model

(2013) David Amschl et al.   BMC NEUROSCIENCE

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

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

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

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

Neuroinflammation and α-synuclein accumulation in response to glucocerebrosidase deficiency are accompanied by synaptic dysfunction

(2013) Edward I. Ginns et al.   MOLECULAR GENETICS AND METABOLISM

Clinical profiles of Parkinson's disease associated with common leucine-rich repeat kinase 2 and glucocerebrosidase genetic variants in Chinese individuals

(2013) Chaodong Wang et al.   NEUROBIOLOGY OF AGING

Clinicogenetic study of GBA mutations in patients with familial Parkinson's disease

(2013) Yuanzhe Li et al.   NEUROBIOLOGY OF AGING

The Function of α-Synuclein

(2013) Jacob T. Bendor et al.   NEURON

BDNF and memory processing

(2013) Pedro Bekinschtein et al.   NEUROPHARMACOLOGY

Behavioral Characterization of A53T Mice Reveals Early and Late Stage Deficits Related to Parkinson’s Disease

(2013) Katrina L. Paumier 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

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

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

(2012) Nunilo Cremades et al.   CELL

The Function of Tyrosine Hydroxylase in the Normal and Parkinsonian Brain

(2012) Christopher Tolleson et al.   CNS & Neurological Disorders-Drug Targets

Greater risk of parkinsonism associated with non-N370S GBA1 mutations

(2012) M. J. Barrett et al.   JOURNAL OF INHERITED METABOLIC DISEASE

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

Hyposmia and cognitive impairment in Gaucher disease patients and carriers

(2012) Alisdair McNeill et al.   MOVEMENT DISORDERS

MutantGBA1Expression and Synucleinopathy Risk: First Insights from Cellular and Mouse Models

(2012) S. Pablo Sardi et al.   Neurodegenerative Diseases

GBA mutations increase risk for Lewy body disease with and without Alzheimer disease pathology

(2012) D. Tsuang et al.   NEUROLOGY

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

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

A Progressive Mouse Model of Parkinson’s Disease: The Thy1-aSyn (“Line 61”) Mice

(2012) Marie-Francoise Chesselet et al.   Neurotherapeutics

Parkinson’s disease in patients and obligate carriers of Gaucher disease

(2012) Joanna G. Becker et al.   PARKINSONISM & RELATED DISORDERS

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

Animal models for Gaucher disease research

(2011) T. Farfel-Becker et al.   Disease Models & Mechanisms

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

Analysis of striatal transcriptome in mice overexpressing human wild-type alpha-synuclein supports synaptic dysfunction and suggests mechanisms of neuroprotection for striatal neurons

(2011) Yofre Cabeza-Arvelaiz et al.   Molecular Neurodegeneration

GBA-associated PD presents with nonmotor characteristics

(2011) K. Brockmann et al.   NEUROLOGY

Passive Immunization Reduces Behavioral and Neuropathological Deficits in an Alpha-Synuclein Transgenic Model of Lewy Body Disease

(2011) Eliezer Masliah et al.   PLoS One

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

Clinical progression in Parkinson disease and the neurobiology of axons

(2010) Hsiao-Chun Cheng et al.   ANNALS OF NEUROLOGY

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

CNS-targeted gene therapy improves survival and motor function in a mouse model of spinal muscular atrophy

(2010) Marco A. Passini et al.   JOURNAL OF CLINICAL INVESTIGATION

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

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

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

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