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GBA1 Gene Mutations in α-Synucleinopathies-Molecular Mechanisms Underlying Pathology and Their Clinical Significance

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2023)

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Review Pharmacology & Pharmacy

A Systematic Review and Meta-analyses of Longitudinal Studies on Drug Treatments for Gaucher Disease

Leticia Paula Leonart et al.

Summary: This systematic review evaluates the effectiveness of drugs used for the treatment of Gaucher disease. The results show that enzyme replacement therapy is effective for both naive and experienced patients, while substrate reduction therapy has less significant effects. Eliglustat produces stable results in experienced patients. This study is of great importance in improving the treatment of Gaucher disease.

ANNALS OF PHARMACOTHERAPY (2023)

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Article Clinical Neurology

Parkinson Disease and Subthalamic Nucleus Deep Brain Stimulation: Cognitive Effects in GBA Mutation Carriers

Gian Pal et al.

Summary: This study compares the rate of change in cognition between glucocerebrosidase (GBA) mutation carriers and noncarriers with and without subthalamic nucleus deep brain stimulation (STN-DBS) in Parkinson disease. The results suggest that the combined effects of GBA mutations and STN-DBS negatively impact cognition.

ANNALS OF NEUROLOGY (2022)

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Article Neurosciences

Neuroimaging alterations in dementia with Lewy bodies and neuroimaging differences between dementia with Lewy bodies and Alzheimer's disease: An activation likelihood estimation meta-analysis

Wen-ying Ma et al.

Summary: The study aimed to identify brain regions with abnormalities in patients with DLB and differences between DLB and AD. Neural networks involved in these abnormal brain regions were described. DLB patients showed dysfunction in certain brain regions compared to control groups and distinction from AD, suggesting potential markers for diagnosis and specific interventions for both DLB and AD.

CNS NEUROSCIENCE & THERAPEUTICS (2022)

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Article Clinical Neurology

Glucocerebrosidase (GBA) gene variants in a multi-ethnic Asian cohort with Parkinson's disease: mutational spectrum and clinical features

Jia Lun Lim et al.

Summary: The study in Malaysia on GBA variants revealed a higher rate of GBA mutations among early-onset PD patients, especially across three different ethnicities. Additionally, the study explored the severe disease progression and spine posture abnormalities in GBA variant carriers.

JOURNAL OF NEURAL TRANSMISSION (2022)

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Article Clinical Neurology

GBA and APOE Impact Cognitive Decline in Parkinson's Disease: A 10-Year Population-Based Study

Aleksandra A. Szwedo et al.

Summary: This study conducted a pooled analysis of six cohorts of newly diagnosed PD patients and found that APOE-ε4 and GBA mutations are closely associated with cognitive decline and risk of dementia in PD. The risk is even higher in patients carrying both genetic variants. However, no significant effects were observed for MAPT and SNCA rs356219 in PD cognitive decline.

MOVEMENT DISORDERS (2022)

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Article Clinical Neurology

Plasma Glucosylsphingosine in GBA1 Mutation Carriers with and without Parkinson's Disease

Matthew Surface et al.

Summary: This study found significantly higher levels of plasma glucosylsphingosine in GBA1 N370S carriers, independent of disease status. This opens up the potential for future assessment of glucosylsphingosine as a clinically meaningful biomarker of GBA1-PD.

MOVEMENT DISORDERS (2022)

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Article Multidisciplinary Sciences

Different α-synuclein prion strains cause dementia with Lewy bodies and multiple system atrophy

Jacob I. Ayers et al.

Summary: Alpha-synuclein protein, with different conformations, is associated with neurodegenerative diseases including multiple system atrophy, dementia with Lewy bodies, and Parkinson's disease. Through experimental studies using transgenic mice and cultured cells, different strains of alpha-synuclein prions are found to be responsible for these diseases.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2022)

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Review Neurosciences

LRRK2, GBA and their interaction in the regulation of autophagy: implications on therapeutics in Parkinson's disease

Shirley Yin-Yu Pang et al.

Summary: Mutations in LRRK2 and GBA are the most common genetic causes of Parkinson's disease, affecting the autophagic-lysosomal pathway. These genes influence each other, leading to autophagic defects, alpha-synuclein accumulation, and worsened clinical symptoms. Inhibitors of LRRK2 kinase and activators of GCase show promise in pre-clinical models, but their efficacy in idiopathic Parkinson's disease remains uncertain.

TRANSLATIONAL NEURODEGENERATION (2022)

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Editorial Material Cell Biology

Misfolded GBA/β-glucocerebrosidase impairs ER-quality control by chaperone-mediated autophagy in Parkinson disease

Sheng-Han Kuo et al.

Summary: Inhibition of chaperone-mediated autophagy (CMA) may play a significant role in neurodegenerative diseases, including Parkinson's disease (PD). PD-related proteins in the cytosol have been found to inhibit CMA, and decreased CMA activity has been observed in sporadic PD patients. Additionally, dysfunction of CMA caused by the non-cytosolic PD-related protein GBA has been reported, revealing a new role for CMA in endoplasmic reticulum quality control.

AUTOPHAGY (2022)

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Article Clinical Neurology

Sphingolipid changes in Parkinson L444P GBA mutation fibroblasts promote alpha-synuclein aggregation

Celine Galvagnion et al.

Summary: This study found that mutations of the glucocerebrosidase 1 (GBA) gene, a prevalent risk factor for Parkinson's disease, led to altered lipid membrane composition in Parkinson fibroblasts. The altered lipid profile featured increased levels of sphingolipids and shorter-chain sphingolipid molecules. The extent of this alteration was correlated with the reduction of fibroblast glucocerebrosidase activity and accelerated alpha-synuclein aggregation. Treatment with a small molecule chaperone, ambroxol, restored the lipid profile and reversed the pro-aggregation effect. These findings suggest that the GBA mutation and consequent loss of enzymatic activity are associated with a distinct membrane lipid profile, which may increase the risk for alpha-synuclein aggregate pathology.

BRAIN (2022)

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Article Clinical Neurology

Longitudinal clinical, cognitive, and neuroanatomical changes over 5 years in GBA-positive Parkinson's disease patients

Michela Leocadi et al.

Summary: This study found that PD patients with GBA mutation experienced a more rapid decline in motor and cognitive functions over 5 years, showing greater, earlier and faster cortical thinning. Measures of cortical thickness may be a useful tool for monitoring and predicting PD progression based on genetic background.

JOURNAL OF NEUROLOGY (2022)

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Article Clinical Neurology

Glucocerebrosidase Activity is not Associated with Parkinson's Disease Risk or Severity

Nurit Omer et al.

Summary: This study investigated the association between GCase activity, PD phenotype, and prodromal PD probability in carriers of GBA gene mutations, finding that low GCase activity does not explain the clinical phenotype or risk for prodromal PD in this cohort.

MOVEMENT DISORDERS (2022)

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Review Clinical Neurology

Neuroimaging in Glucocerebrosidase-Associated Parkinsonism: A Systematic Review

Massimo Filippi et al.

Summary: This article reviews studies applying neuroimaging to GBA-associated parkinsonism. The results show that GBA-PD patients exhibit a more aggressive disease progression in neuroimaging compared to iPD, with significant differences in cortical burden. Contrasting evidence is available regarding imaging and clinical findings in GBA-NMC, although subtle differences have been reported compared to healthy controls without mutations.

MOVEMENT DISORDERS (2022)

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Review Neurosciences

Inflammation in dementia with Lewy bodies

Jay Amin et al.

Summary: This article provides a review of the role of inflammation in Dementia with Lewy bodies (DLB). The research suggests an increase in cerebral and peripheral inflammation in the early stages of DLB, which decreases as the disease progresses. Alpha-synuclein is found to directly promote inflammation, and the presence of Alzheimer's disease (AD) co-pathology contributes to the profile of neuroinflammation in DLB. Further longitudinal studies are recommended to enhance our understanding of the disease's pathogenesis and develop a composite biomarker for DLB diagnosis and identification of new therapeutic targets.

NEUROBIOLOGY OF DISEASE (2022)

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Review Clinical Neurology

Effect of GBA gene variants on clinical characteristics of dementia with Lewy bodies: a review and meta-analyses

Li Liu et al.

Summary: Our meta-analysis confirmed a significant association between GBA gene variants and DLB, especially N370S, E326K, and L444P variants. However, the T369M variant did not show a significant difference. DLB patients with GBA variants had an earlier age of onset and more severe cognitive impairment. Sex did not appear to influence the association between GBA variants and DLB.

NEUROLOGICAL SCIENCES (2022)

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Review Geriatrics & Gerontology

Glucocerebrosidase Mutations Cause Mitochondrial and Lysosomal Dysfunction in Parkinson's Disease: Pathogenesis and Therapeutic Implications

Wei Zheng et al.

Summary: Parkinson's disease is the second most common neurodegenerative disease, characterized by various motor and non-motor symptoms. Mutations in the glucocerebrosidase gene are the most important genetic risk factors for Parkinson's disease discovered so far. Patients with glucocerebrosidase mutations exhibit clinical manifestations of Parkinson's disease that are indistinguishable from those with sporadic Parkinson's disease at an individual level. However, they have a younger age of onset and a greater risk of cognitive and psychiatric symptoms.

FRONTIERS IN AGING NEUROSCIENCE (2022)

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Review Cell Biology

GBA Variants and Parkinson Disease: Mechanisms and Treatments

Laura Smith et al.

Summary: Mutations in the GBA gene are the most important genetic risk factor for Parkinson's disease (PD), leading to protein metabolism abnormalities, lysosomal dysfunction, and lipid metabolism disorders. These mutations can trigger neurodegenerative processes through various mechanisms, including the accumulation of alpha-synuclein, endoplasmic reticulum stress responses, and mitochondrial dysfunction. Understanding these mechanisms can facilitate the development of targeted therapies for GBA-related PD.

CELLS (2022)

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Phagocytosis of Erythrocytes from Gaucher Patients Induces Phenotypic Modifications in Macrophages, Driving Them toward Gaucher Cells

Lucie Dupuis et al.

Summary: Gaucher disease is a condition characterized by glucocerebrosidase deficiency, leading to the accumulation of sphingolipids in macrophages. This study demonstrates that red blood cells in Gaucher disease are more susceptible to phagocytosis by macrophages, which contributes to phenotypic modifications in macrophages and the formation of Gaucher-like cells.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2022)

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Article Neurosciences

LRRK2 kinase activity regulates GCase level and enzymatic activity differently depending on cell type in Parkinson's disease

Maria Kedariti et al.

Summary: LRRK2 kinase activity can regulate the function of GCase, but the effect is cell-type-specific. In some models, there is a positive correlation between LRRK2 and GCase activity, but the protein levels of GCase are reduced in brain tissues and certain cells, while increased in others.

NPJ PARKINSONS DISEASE (2022)

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Article Biology

Redefining GBA gene structure unveils the ability of Cap-independent, IRES-dependent gene regulation

Keiko Miyoshi et al.

Summary: This study redefines the structure of the glucocerebrosidase coding gene and elucidates the regulatory mechanisms of its transcription and translation. The research discovers alternative uses of gene promoters in macrophages and neutrophils, as well as cap-independent translation through internal ribosome entry site activities. Furthermore, it reveals reciprocal expression between GBA and miR22-3p versus GBAP1 transcripts during macrophage differentiation.

COMMUNICATIONS BIOLOGY (2022)

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Article Multidisciplinary Sciences

Mutant glucocerebrosidase impairs α-synuclein degradation by blockade of chaperone-mediated autophagy

Sheng-Han Kuo et al.

Summary: The most common genetic risk factors for Parkinson's disease (PD) are a set of heterozygous mutant (MT) alleles of the GBA1 gene. These alleles cause mislocalization of the GCase protein and block CMA function, resulting in accumulation of alpha-synuclein.

SCIENCE ADVANCES (2022)

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Article Biochemistry & Molecular Biology

The interplay between Glucocerebrosidase, α-synuclein and lipids in human models of Parkinson's disease

Sonia Sanz Munoz et al.

Summary: Mutations in the GBA gene, encoding GCase, are the highest genetic risk factor for Parkinson’s disease, leading to decreased GCase activity and stability which results in the accumulation of lipid substrates and αS. Changes in αS and lipid levels are correlated with alterations in GCase activity/protein levels. Current strategies aim to revert the changes in GCase activity/protein, αS, and lipid levels in the context of PD.

BIOPHYSICAL CHEMISTRY (2021)

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Article Multidisciplinary Sciences

Human α-synuclein overexpression in a mouse model of Parkinson's disease leads to vascular pathology, blood brain barrier leakage and pericyte activation

Osama Elabi et al.

Summary: The pathological hallmark of Parkinson's disease is the formation of Lewy bodies containing alpha-synuclein, but microvascular alterations have also been linked to neurodegeneration in PD. Using a human alpha-synuclein overexpression mouse model, researchers demonstrated compromised blood-brain barrier integrity, dynamic changes in vessel morphology, and activation of pericytes, supporting the occurrence of vascular pathology as an important aspect in PD. This model provides a powerful tool to investigate disease-modifying factors and guide the development of new treatments for Parkinson's disease.

SCIENTIFIC REPORTS (2021)

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Article Hematology

Successful Treatment of Gaucher Disease With Matched Sibling Hematopoietic Stem Cell Transplantation

Shevachut Chavananon et al.

JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY (2021)

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Article Cell Biology

APOE3-Jacksonville (V236E) variant reduces self-aggregation and risk of dementia

Chia-Chen Liu et al.

Summary: The APOE3-Jacksonville variant has been shown to reduce APOE aggregation and enhance its lipidation in human brains, leading to increased levels of key lipids critical for synaptic functions. Mice expressing APOE3-Jac exhibit reduced amyloid pathology, plaque-associated immune responses, and neuritic dystrophy, indicating potential therapeutic targets for treating individuals with AD and DLB.

SCIENCE TRANSLATIONAL MEDICINE (2021)

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Article Clinical Neurology

Cognitive Functioning of Glucocerebrosidase (GBA) Non-manifesting Carriers

Eileen E. Moran et al.

Summary: Mutations and variants in the glucocerebrosidase (GBA) gene are common genetic risk factors for Parkinson's disease (PD), but carriers without PD show poorer performance in executive functioning while no significant differences are observed in other domains. This suggests that most GBA mutation carriers may not present pre-manifest non-motor or motor features associated with PD.

FRONTIERS IN NEUROLOGY (2021)

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Review Clinical Neurology

Association of gender and age at onset with glucocerebrosidase associated Parkinson's disease: a systematic review and meta-analysis

Qinghua Li et al.

Summary: The GBA gene has been proven to be a risk factor for the development of Parkinson's disease, with a higher prevalence of female patients in GBA-PD and carriers having a younger age at onset. Additionally, gender differences in GBA-PD prevalence were found to be significant in North American and European patients but not in other regions, suggesting ethnic-specific effects.

NEUROLOGICAL SCIENCES (2021)

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Article Clinical Neurology

Spastic paraplegia type 46: novel and recurrent GBA2 gene variants in a compound heterozygous Italian patient with spastic ataxia phenotype

Marta Gatti et al.

Summary: SPG46 is a rare autosomal recessive hereditary spastic paraplegia caused by mutations in the GBA2 gene, leading to symptoms such as unsteady gait and spastic-ataxia. The disease presents with distinct clinical features and may overlap with other conditions.

NEUROLOGICAL SCIENCES (2021)

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Review Neurosciences

Gene Therapy for Parkinson's Disease Associated with GBA1 Mutations

Asa Abeliovich et al.

Summary: Genetic and animal studies have shown that lysosomal dysfunction is crucial in the pathogenesis of Parkinson's disease, with GBA1 gene playing a major role. Restoring normal levels of GBA1 enzyme activity may have beneficial effects on Parkinson's disease patients. A gene therapy, PR001, is being evaluated in clinical trials for Parkinson's disease patients with GBA1 mutations.

JOURNAL OF PARKINSONS DISEASE (2021)

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Review Clinical Neurology

Exploring the Genotype-Phenotype Correlation in GBA-Parkinson Disease: Clinical Aspects, Biomarkers, and Potential Modifiers

Elisa Menozzi et al.

Summary: Variants in the GBA gene are the most common genetic risk factor for Parkinson's disease, with GBA-PD patients typically having more severe symptoms and faster disease progression. The impact of different GBA variants on clinical phenotype varies.

FRONTIERS IN NEUROLOGY (2021)

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Editorial Material Genetics & Heredity

Next-Generation Sequencing Analysis of GBA1: The Challenge of Detecting Complex Recombinant Alleles

Elizabeth G. Woo et al.

FRONTIERS IN GENETICS (2021)

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Article Neuroimaging

FDG PET metabolic signatures distinguishing prodromal DLB and prodromal AD

Kejal Kantarci et al.

Summary: Patients with mild cognitive impairment (MCI) who progressed to probable dementia with Lewy bodies (DLB) show hypometabolism in the parieto-occipital cortex extending into temporal lobes, substantia nigra, and thalamus. In comparison to those who progressed to Alzheimer's disease (AD) dementia, MCI-DLB patients exhibit preserved medial temporal and posterior cingulate metabolism, along with greater hypometabolism in the substantia nigra. The CIS ratio and medial temporal to substantia nigra ratio are identified as useful in distinguishing prodromal DLB from AD.

NEUROIMAGE-CLINICAL (2021)

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Review Neurosciences

Anosognosia in dementia with Lewy bodies: a systematic review

Victor Calil et al.

Summary: Anosognosia is a common manifestation in patients with dementia with Lewy bodies (DLB), with worse awareness regarding memory compared to healthy older controls. Studies show inconsistent results on the differences in anosognosia between DLB and Alzheimer's disease (AD) patients. Presence of AD pathology and neuroimaging biomarkers may increase the prevalence of anosognosia in individuals with DLB.

ARQUIVOS DE NEURO-PSIQUIATRIA (2021)

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Clinical features of Lewy body dementia: insights into diagnosis and pathophysiology

Elie Matar et al.

JOURNAL OF NEUROLOGY (2020)

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Parkinson's Disease: Glucocerebrosidase 1 Mutation Severity Is Associated with CSF Alpha-Synuclein Profiles

Stefanie Lerche et al.

MOVEMENT DISORDERS (2020)

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LRRK2 and GBA Variants Exert Distinct Influences on Parkinson's Disease-Specific Metabolic Networks

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Clinical and dopamine transporter imaging characteristics of non-manifest LRRK2 and GBA mutation carriers in the Parkinson's Progression Markers Initiative (PPMI): a cross-sectional study

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Glucocerebrosidase activity, cathepsin D and monomeric α-synuclein interactions in a stem cell derived neuronal model of a PD associated GBA1 mutation

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GBA mutations p.N370S and p.L444P are associated with Parkinson's disease in patients from Northern Brazil

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CURRENT NEUROLOGY AND NEUROSCIENCE REPORTS (2018)

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123I-MIBG myocardial scintigraphy for the diagnosis of DLB: a multicentre 3-year follow-up study

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Features of GBA-associated Parkinson's disease at presentation in the UK Tracking Parkinson's study

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Glucocerebrosidase mRNA is Diminished in Brain of Lewy Body Diseases and Changes with Disease Progression in Blood

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AGING AND DISEASE (2018)

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Integrated Genetic Analysis of Racial Differences of Common GBA Variants in Parkinson's Disease: A Meta-Analysis

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FRONTIERS IN MOLECULAR NEUROSCIENCE (2018)

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Lipid-dependent deposition of alpha-synuclein and Tau on neuronal Secretogranin II-positive vesicular membranes with age

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Lewy Bodies and the Mechanisms of Neuronal Cell Death in Parkinson's Disease and Dementia with Lewy Bodies

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Glucosylsphingosine Promotes α-Synuclein Pathology in Mutant GBA-Associated Parkinson's Disease

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Glucocerebrosidase haploinsufficiency in A53T α-synuclein mice impacts disease onset and course

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Diagnosis and management of dementia with Lewy bodies Fourth consensus report of the DLB Consortium

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Changes of brain structure in Parkinson's disease patients with mild cognitive impairment analyzed via VBM technology

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NEUROSCIENCE LETTERS (2017)

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The GBA variant E326K is associated with Parkinson's disease and explains a genome-wide association signal

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A dose effect of mutations in the GBA gene on Parkinson's disease phenotype

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Lysosomal storage and impaired autophagy lead to inflammasome activation in Gaucher macrophages

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GBA Variants are associated with a distinct pattern of cognitive deficits in Parkinson's disease

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MOVEMENT DISORDERS (2016)

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Survival and dementia in GBA-associated Parkinson's disease: The mutation matters

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Letter Clinical Neurology

Glucocerebrosidase and parkinsonism: lessons to learn

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Neuropsychiatric characteristics of GBA-associated Parkinson disease

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GBA Mutations Are Associated With Earlier Onset and Male Sex in Dementia With Lewy Bodies

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MOVEMENT DISORDERS (2016)

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Genome-wide analysis of genetic correlation in dementia with Lewy bodies, Parkinson's and Alzheimer's diseases

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NEUROBIOLOGY OF AGING (2016)

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GBA Variants Influence Motor and Non-Motor Features of Parkinson's Disease

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PLOS ONE (2016)

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High Frequency of GBA Gene Mutations in Dementia With Lewy Bodies Among Ashkenazi Jews

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JAMA NEUROLOGY (2016)

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Lack of enzyme activity in GBA2 mutants associated with hereditary spastic paraplegia/cerebellar ataxia (SPG46)

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BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2015)

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Glucocerebrosidase activity in Parkinson's disease with and without GBA mutations

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BRAIN (2015)

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The Synaptic Function of α-Synuclein

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Evolution of Prodromal Clinical Markers of Parkinson Disease in a GBA Mutation-Positive Cohort

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JAMA NEUROLOGY (2015)

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GBA-Associated Parkinson's Disease: Reduced Survival and More Rapid Progression in a Prospective Longitudinal Study

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MOVEMENT DISORDERS (2015)

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Variants associated with Gaucher disease in multiple system atrophy

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Reduced glucocerebrosidase is associated with increased α-synuclein in sporadic Parkinson's disease

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Functional analysis of 11 novel GBA alleles

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Glucocerebrosidase mutations in primary parkinsonism

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PARKINSONISM & RELATED DISORDERS (2014)

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

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iPSC-derived neurons from GBA1-associated Parkinson's disease patients show autophagic defects and impaired calcium homeostasis

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Glucocerebrosidase depletion enhances cell-to-cell transmission of α-synuclein

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Saposin C Protects Glucocerebrosidase against α-Synuclein Inhibition

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Prion-like spreading of pathological α-synuclein in brain

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

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

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

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MOLECULAR GENETICS AND METABOLISM (2013)

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A Multicenter Study of Glucocerebrosidase Mutations in Dementia With Lewy Bodies

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Clinical and Biochemical Differences in Patients Having Parkinson Disease With vs Without GBA Mutations

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The link between the GBA gene and parkinsonism

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LANCET NEUROLOGY (2012)

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Editorial Material Clinical Neurology

Glucocerebrosidase Gene Mutations Are Associated with Parkinson's Disease in Russia

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MOVEMENT DISORDERS (2012)

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Penetrance of Parkinson disease in glucocerebrosidase gene mutation carriers

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

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NEUROLOGY (2012)

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The cytosolic β-glucosidase GBA3 does not influence type 1 Gaucher disease manifestation

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BLOOD CELLS MOLECULES AND DISEASES (2011)

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

Thai Leong Yap et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2011)

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Editorial Material Clinical Neurology

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

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NEUROLOGY (2011)

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Gaucher Disease Ascertained Through a Parkinson's Center: Imaging and Clinical Characterization

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MOVEMENT DISORDERS (2010)

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Mutations for Gaucher Disease Confer High Susceptibility to Parkinson Disease

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ARCHIVES OF NEUROLOGY (2009)

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Genetic susceptibility in Parkinson's disease

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BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2009)

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Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease

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BRAIN (2009)

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

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NEUROLOGY (2009)

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Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Greece

Kallirhoe Kalinderi et al.

NEUROSCIENCE LETTERS (2009)

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Multicenter Analysis of Glucocerebrosidase Mutations in Parkinson's Disease

E. Sidransky et al.

NEW ENGLAND JOURNAL OF MEDICINE (2009)

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Review Genetics & Heredity

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

Kathleen S. Hruska et al.

HUMAN MUTATION (2008)

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

Elvira V. De Marco et al.

MOVEMENT DISORDERS (2008)

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Murine models of acute neuronopathic Gaucher disease

Ida Berglin Enquist et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2007)

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Letter Clinical Neurology

Glucocerebrosidase mutations and risk of Parkinson disease in Chinese patients

Eng-King Tan et al.

ARCHIVES OF NEUROLOGY (2007)

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Hematologically important mutations: Gaucher disease

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BLOOD CELLS MOLECULES AND DISEASES (2005)

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Analysis of the glucocerebrosidase gene in Parkinson's disease

C Sato et al.

MOVEMENT DISORDERS (2005)

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Impaired degradation of mutant α-synuclein by chaperone-mediated autophagy

AM Cuervo et al.

SCIENCE (2004)

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Parkinsonism among Gaucher disease carriers

O Goker-Alpan et al.

JOURNAL OF MEDICAL GENETICS (2004)

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Expression and functional characterization of mutated glucocerebrosidase alleles causing Gaucher disease in Spanish patients

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BLOOD CELLS MOLECULES AND DISEASES (2004)

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X-ray structure of human acid-β-glucosidase, the defective enzyme in Gaucher disease

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