- Home
- Publications
- Publication Search
- Publication Details
Title
Neurological effects of glucocerebrosidase gene mutations
Authors
Keywords
-
Journal
EUROPEAN JOURNAL OF NEUROLOGY
Volume -, Issue -, Pages -
Publisher
Wiley
Online
2018-10-13
DOI
10.1111/ene.13837
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Glycosphingolipid levels and glucocerebrosidase activity are altered in normal aging of the mouse brain
- (2018) Penelope J. Hallett et al. NEUROBIOLOGY OF AGING
- Integrated Genetic Analysis of Racial Differences of Common GBA Variants in Parkinson's Disease: A Meta-Analysis
- (2018) Yuan Zhang et al. Frontiers in Molecular Neuroscience
- Insights into the structural biology of Gaucher disease
- (2017) Laura Smith et al. EXPERIMENTAL NEUROLOGY
- Glucosylsphingosine Promotes α-Synuclein Pathology in Mutant GBA-Associated Parkinson's Disease
- (2017) Yumiko V. Taguchi et al. JOURNAL OF NEUROSCIENCE
- Glucosylceramide synthase inhibition alleviates aberrations in synucleinopathy models
- (2017) S. Pablo Sardi et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Tandem Mass Spectrometry Multiplex Analysis of Glucosylceramide and Galactosylceramide Isoforms in Brain Tissues at Different Stages of Parkinson Disease
- (2016) Michel Boutin et al. ANALYTICAL CHEMISTRY
- Pathological α-synuclein in gastrointestinal tissues from prodromal Parkinson disease patients
- (2016) Morten Gersel Stokholm et al. ANNALS OF NEUROLOGY
- Specifically neuropathic Gaucher's mutations accelerate cognitive decline in Parkinson's
- (2016) Ganqiang Liu et al. ANNALS OF NEUROLOGY
- Survival and dementia inGBA-associated Parkinson's disease: The mutation matters
- (2016) Roberto Cilia et al. ANNALS OF NEUROLOGY
- Progress and potential of non-inhibitory small molecule chaperones for the treatment of Gaucher disease and its implications for Parkinson disease
- (2016) Olive Jung et al. Expert Review of Proteomics
- Lipid microbubbles as a vehicle for targeted drug delivery using focused ultrasound-induced blood–brain barrier opening
- (2016) Carlos Sierra et al. JOURNAL OF CEREBRAL BLOOD FLOW AND METABOLISM
- Long-term follow up and sudden unexpected death in Gaucher disease type 3 in Egypt
- (2016) Magy Abdelwahab et al. MOLECULAR GENETICS AND METABOLISM
- Mutations of glucocerebrosidase gene and susceptibility to Parkinson’s disease: An updated meta-analysis in a European population
- (2016) F. Zhao et al. NEUROSCIENCE
- Ambroxol chaperone therapy for neuronopathic Gaucher disease: A pilot study
- (2016) Aya Narita et al. Annals of Clinical and Translational Neurology
- Gaucher disease and comorbidities: B-cell malignancy and parkinsonism
- (2015) Timothy M. Cox et al. AMERICAN JOURNAL OF HEMATOLOGY
- Gaucher disease types 1 and 3: Phenotypic characterization of large populations from the ICGG Gaucher Registry
- (2015) Gregory A. Grabowski et al. AMERICAN JOURNAL OF HEMATOLOGY
- Lentiviral Gene Therapy Using Cellular Promoters Cures Type 1 Gaucher Disease in Mice
- (2015) Maria Dahl et al. MOLECULAR THERAPY
- No evidence for substrate accumulation in Parkinson brains withGBAmutations
- (2015) Matthew E. Gegg et al. MOVEMENT DISORDERS
- Differential effects of severe vs mild GBA mutations on Parkinson disease
- (2015) Z. Gan-Or et al. NEUROLOGY
- Inflammation is genetically implicated in Parkinson’s disease
- (2015) N. Dzamko et al. NEUROSCIENCE
- Evolution of Prodromal Clinical Markers of Parkinson Disease in aGBAMutation–Positive Cohort
- (2015) Michelle Beavan et al. JAMA Neurology
- Pathogenesis of Bone Alterations in Gaucher Disease: The Role of Immune System
- (2015) Juan Marcos Mucci et al. Journal of Immunology Research
- Glucocerebrosidase deficits in sporadic Parkinson disease
- (2014) Karen E Murphy et al. Autophagy
- Ambroxol improves lysosomal biochemistry in glucocerebrosidase mutation-linked Parkinson disease cells
- (2014) Alisdair McNeill et al. BRAIN
- Improved neuroprotection using miglustat, curcumin and ibuprofen as a triple combination therapy in Niemann–Pick disease type C1 mice
- (2014) Ian M. Williams et al. NEUROBIOLOGY OF DISEASE
- Transfer of human α-synuclein from the olfactory bulb to interconnected brain regions in mice
- (2013) Nolwen L. Rey et al. ACTA NEUROPATHOLOGICA
- Adaptive changes in autophagy after UPS impairment in Parkinson's disease
- (2013) Yu-fei Shen et al. ACTA PHARMACOLOGICA SINICA
- Saposin C Protects Glucocerebrosidase against α-Synuclein Inhibition
- (2013) Thai Leong Yap et al. BIOCHEMISTRY
- Prion-like spreading of pathological α-synuclein in brain
- (2013) Masami Masuda-Suzukake et al. BRAIN
- Malignancies and monoclonal gammopathy in Gaucher disease; a systematic review of the literature
- (2013) Maarten Arends et al. BRITISH JOURNAL OF HAEMATOLOGY
- Autophagy in aging and neurodegenerative diseases: implications for pathogenesis and therapy
- (2013) Chen-Chen Tan et al. NEUROBIOLOGY OF AGING
- Immune response to intrathecal enzyme replacement therapy in mucopolysaccharidosis I patients
- (2013) Moin Vera et al. PEDIATRIC RESEARCH
- Glucosylsphingosine Is a Highly Sensitive and Specific Biomarker for Primary Diagnostic and Follow-Up Monitoring in Gaucher Disease in a Non-Jewish, Caucasian Cohort of Gaucher Disease Patients
- (2013) Arndt Rolfs 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
- Clinical and Biochemical Differences in Patients Having Parkinson Disease With vs WithoutGBAMutations
- (2013) Lama M. Chahine et al. JAMA Neurology
- Induction of CNS α-synuclein pathology by fibrillar and non-amyloidogenic recombinant α-synuclein
- (2013) Amanda N Sacino et al. Acta Neuropathologica Communications
- Glucocerebrosidase deficiency in substantia nigra of parkinson disease brains
- (2012) Matthew E. Gegg et al. ANNALS OF NEUROLOGY
- Meta-analysis of early nonmotor features and risk factors for Parkinson disease
- (2012) Alastair J. Noyce et al. ANNALS OF NEUROLOGY
- Ambroxol as a pharmacological chaperone for mutant glucocerebrosidase
- (2012) Inna Bendikov-Bar et al. BLOOD CELLS MOLECULES AND DISEASES
- Contribution of brain inflammation to neuronal cell death in neuronopathic forms of Gaucher's disease
- (2012) Einat B. Vitner et al. BRAIN
- Intracerebral inoculation of pathological α-synuclein initiates a rapidly progressive neurodegenerative α-synucleinopathy in mice
- (2012) Kelvin C. Luk et al. JOURNAL OF EXPERIMENTAL MEDICINE
- The cognitive profile of type 1 Gaucher disease patients
- (2012) Marieke Biegstraaten et al. JOURNAL OF INHERITED METABOLIC DISEASE
- An innovative approach to the treatment of Gaucher disease and possibly other metabolic disorders of the brain
- (2012) Roscoe O. Brady et al. JOURNAL OF INHERITED METABOLIC DISEASE
- 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
- Elevated plasma glucosylsphingosine in Gaucher disease: relation to phenotype, storage cell markers, and therapeutic response
- (2011) N. Dekker et al. BLOOD
- 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
- Neuroinflammation and α-Synuclein Dysfunction Potentiate Each Other, Driving Chronic Progression of Neurodegeneration in a Mouse Model of Parkinson’s Disease
- (2011) Hui-Ming Gao et al. ENVIRONMENTAL HEALTH PERSPECTIVES
- Immunoprotection against toxic biomarkers is retained during Parkinson's disease progression
- (2011) Marina A. Gruden et al. JOURNAL OF NEUROIMMUNOLOGY
- Autonomic involvement in Parkinson's disease: Pathology, pathophysiology, clinical features and possible peripheral biomarkers
- (2011) Maria G. Cersosimo et al. JOURNAL OF THE NEUROLOGICAL SCIENCES
- The enigma of the E326K mutation in acid β-glucocerebrosidase
- (2011) Mia Horowitz et al. MOLECULAR GENETICS AND METABOLISM
- Alpha-synuclein in colonic submucosa in early untreated Parkinson's disease
- (2011) Kathleen M. Shannon et al. MOVEMENT DISORDERS
- Invariant natural killer T cells recognize lipid self antigen induced by microbial danger signals
- (2011) Patrick J Brennan et al. NATURE IMMUNOLOGY
- Alpha-synuclein release by neurons activates the inflammatory response in a microglial cell line
- (2011) Lydia Alvarez-Erviti et al. NEUROSCIENCE RESEARCH
- Peripheral neuropathy in adult type 1 Gaucher disease: a 2-year prospective observational study
- (2010) Marieke Biegstraaten et al. BRAIN
- -Synuclein Activates Microglia by Inducing the Expressions of Matrix Metalloproteinases and the Subsequent Activation of Protease-Activated Receptor-1
- (2010) E.-J. Lee et al. JOURNAL OF IMMUNOLOGY
- Colonic Biopsies to Assess the Neuropathology of Parkinson's Disease and Its Relationship with Symptoms
- (2010) Thibaud Lebouvier et al. PLoS One
- Glucocerebrosidase gene-deficient mouse recapitulates Gaucher disease displaying cellular and molecular dysregulation beyond the macrophage
- (2010) P. K. Mistry et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- New Strategies for Enzyme Replacement Therapy for Lysosomal Storage Diseases
- (2010) Jeffrey H. Grubb et al. REJUVENATION RESEARCH
- On the mechanism of internalization of α-synuclein into microglia: roles of ganglioside GM1 and lipid raft
- (2009) Ji-Young Park et al. JOURNAL OF NEUROCHEMISTRY
- α-Synuclein induces migration of BV-2 microglial cells by up-regulation of CD44 and MT1-MMP
- (2009) Seonghan Kim et al. JOURNAL OF NEUROCHEMISTRY
- Neuropathological assessment of Parkinson's disease: refining the diagnostic criteria
- (2009) Dennis W Dickson et al. LANCET NEUROLOGY
- Clinical and genetic study of Japanese patients with type 3 Gaucher disease
- (2009) Asako Tajima et al. MOLECULAR GENETICS AND METABOLISM
- Biopsies of olfactory epithelium in patients with Parkinson's disease
- (2009) Martin Witt et al. MOVEMENT DISORDERS
- LRRK2 and GBA mutations differentially affect the initial presentation of Parkinson disease
- (2009) Z. Gan-Or et al. NEUROGENETICS
- Multicenter Analysis of Glucocerebrosidase Mutations in Parkinson's Disease
- (2009) E. Sidransky et al. NEW ENGLAND JOURNAL OF MEDICINE
- Randomized, controlled trial of miglustat in Gaucher's disease type 3
- (2008) Raphael Schiffmann et al. ANNALS OF NEUROLOGY
- Structural insights on physiological functions and pathological effects of α-synuclein
- (2008) Marco Bisaglia et al. FASEB JOURNAL
- Potential efficacy of enzyme replacement and substrate reduction therapy in three siblings with Gaucher disease type III
- (2008) J. Cox-Brinkman et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Phenotype, diagnosis, and treatment of Gaucher's disease
- (2008) Gregory A Grabowski LANCET
- Lewy bodies in grafted neurons in subjects with Parkinson's disease suggest host-to-graft disease propagation
- (2008) Jia-Yi Li et al. NATURE MEDICINE
Find Funding. Review Successful Grants.
Explore over 25,000 new funding opportunities and over 6,000,000 successful grants.
ExploreBecome a Peeref-certified reviewer
The Peeref Institute provides free reviewer training that teaches the core competencies of the academic peer review process.
Get Started