New therapeutic approaches to Parkinson's disease targeting GBA, LRRK2 and Parkin

Assessing the Relationship Between Monoallelic PRKN Mutations and Parkinson’s Risk

(2021) Steven J Lubbe et al.   HUMAN MOLECULAR GENETICS

Fibroblasts from idiopathic Parkinson’s disease exhibit deficiency of lysosomal glucocerebrosidase activity associated with reduced levels of the trafficking receptor LIMP2

(2021) Ria Thomas et al.   Molecular Brain

Identification of LRRK2 Missense Variants in the Accelerating Medicines Partnership Parkinson’s Disease Cohort

(2021) Nicole Bryant et al.   HUMAN MOLECULAR GENETICS

The Effect of GBA Mutations and APOE Polymorphisms on Dementia with Lewy Bodies in Ashkenazi Jews

(2021) Tamara Shiner et al.   JOURNAL OF ALZHEIMERS DISEASE

Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture

(2021) Ruth Chia et al.   NATURE GENETICS

Ambroxol increases glucocerebrosidase (GCase) activity and restores GCase translocation in primary patient-derived macrophages in Gaucher disease and Parkinsonism

(2021) A.E. Kopytova et al.   PARKINSONISM & RELATED DISORDERS

A disease progression model to quantify the non‐motor symptoms of Parkinson’s disease in participants with leucine‐rich repeat kinase 2 mutation

(2021) Malidi Ahamadi et al.   CLINICAL PHARMACOLOGY & THERAPEUTICS

Association of Dual LRRK2 G2019S and GBA Variations With Parkinson Disease Progression

(2021) Roberto A. Ortega et al.   JAMA Network Open

LRRK2 Targeting Strategies as Potential Treatment of Parkinson’s Disease

(2021) Dominika Natalia Wojewska et al.   Biomolecules

Mitochondrial ROS and Mitophagy: A Complex and Nuanced Relationship

(2020) James H. Schofield et al.   ANTIOXIDANTS & REDOX SIGNALING

The biochemical basis of interactions between Glucocerebrosidase and alpha‐synuclein in GBA 1 mutation carriers

(2020) Marco Toffoli et al.   JOURNAL OF NEUROCHEMISTRY

Penetrance of Parkinson's Disease in LRRK2 p.G2019S Carriers Is Modified by a Polygenic Risk Score

(2020) Hirotaka Iwaki et al.   MOVEMENT DISORDERS

Disease modification and biomarker development in Parkinson disease

(2020) Alberto J. Espay et al.   NEUROLOGY

Ambroxol for the Treatment of Patients With Parkinson Disease With and Without Glucocerebrosidase Gene Mutations

(2020) Stephen Mullin et al.   JAMA Neurology

Plasma Cytokines Profile in Patients with Parkinson’s Disease Associated with Mutations in GBA Gene

(2020) I. V. Miliukhina et al.   BULLETIN OF EXPERIMENTAL BIOLOGY AND MEDICINE

A Possible Modifying Effect of the G2019S Mutation in the LRRK2 Gene on GBA Parkinson's Disease

(2020) Nurit Omer et al.   MOVEMENT DISORDERS

The effect of LRRK2 loss-of-function variants in humans

(2020) Nicola Whiffin et al.   NATURE MEDICINE

LRRK2 inhibitors induce reversible changes in nonhuman primate lungs without measurable pulmonary deficits

(2020) Marco A. S. Baptista et al.   Science Translational Medicine

Small Molecule Chaperones for the Treatment of Gaucher Disease and GBA1-Associated Parkinson Disease

(2020) Tae-Un Han et al.   Frontiers in Cell and Developmental Biology

Analysis of DNM3 and VAMP4 as genetic modifiers of LRRK2 Parkinson’s disease

(2020) Brown EE et al.   NEUROBIOLOGY OF AGING

GBA variants in REM sleep behavior disorder: a multicenter study

(2020) Lynne Krohn et al.   NEUROLOGY

GBA variation and susceptibility to multiple system atrophy

(2020) Anna I. Wernick et al.   PARKINSONISM & RELATED DISORDERS

Early cognitive decline after bilateral subthalamic deep brain stimulation in Parkinson's disease patients with GBA mutations

(2020) Graziella Mangone et al.   PARKINSONISM & RELATED DISORDERS

Parkinson disease clinical subtypes: key features & clinical milestones

(2020) Meghan C. Campbell et al.   Annals of Clinical and Translational Neurology

Kinase inhibition of G2019S-LRRK2 enhances autolysosome formation and function to reduce endogenous alpha-synuclein intracellular inclusions

(2020) Julia Obergasteiger et al.   Cell Death Discovery

Analysis of Heterozygous PRKN Variants and Copy‐Number Variations in Parkinson's Disease

(2020) Eric Yu et al.   MOVEMENT DISORDERS

The Current State-of-the Art of LRRK2-Based Biomarker Assay Development in Parkinson’s Disease

(2020) Hardy J. Rideout et al.   Frontiers in Neuroscience

Splice-Switching Antisense Oligonucleotides Reduce LRRK2 Kinase Activity in Human LRRK2 Transgenic Mice

(2020) Joanna A. Korecka et al.   Molecular Therapy-Nucleic Acids

Pharmacokinetics, Pharmacodynamics, Safety, and Tolerability of Oral Venglustat in Healthy Volunteers

(2020) M. Judith Peterschmitt et al.   Clinical Pharmacology in Drug Development

Precision medicine in Parkinson’s disease patients with LRRK2 and GBA risk variants – Let’s get even more personal

(2020) Christian U. von Linstow et al.   Translational Neurodegeneration

ROS networks: designs, aging, Parkinson’s disease and precision therapies

(2020) Alexey N. Kolodkin et al.   npj Systems Biology and Applications

Selective Inhibitors of G2019S-LRRK2 Kinase Activity

(2020) Albert W. Garofalo et al.   JOURNAL OF MEDICINAL CHEMISTRY

Ambroxol as a novel disease-modifying treatment for Parkinson’s disease dementia: protocol for a single-centre, randomized, double-blind, placebo-controlled trial

(2019) C. R. A. Silveira et al.   BMC Neurology

LRRK2 links genetic and sporadic Parkinson's disease

(2019) Jillian H. Kluss et al.   BIOCHEMICAL SOCIETY TRANSACTIONS

Glucocerebrosidase mutations and phenoconversion of REM sleep behavior disorder to parkinsonism and dementia

(2019) Lucy Honeycutt et al.   PARKINSONISM & RELATED DISORDERS

Recent Developments in LRRK2-Targeted Therapy for Parkinson’s Disease

(2019) Ye Zhao et al.   DRUGS

Mitochondrial clearance and maturation of autophagosomes are compromised in LRRK2 G2019S familial Parkinson’s disease patient fibroblasts

(2019) Joanna A Korecka et al.   HUMAN MOLECULAR GENETICS

Therapeutic approaches to enhance PINK1/Parkin mediated mitophagy for the treatment of Parkinson’s disease

(2019) Silke Miller et al.   NEUROSCIENCE LETTERS

Glucocerebrosidase and its relevance to Parkinson disease

(2019) Jenny Do et al.   Molecular Neurodegeneration

Genomewide association study of Parkinson's disease clinical biomarkers in 12 longitudinal patients' cohorts

(2019) Hirotaka Iwaki et al.   MOVEMENT DISORDERS

Genetic, Structural, and Functional Evidence Link TMEM175 to Synucleinopathies

(2019) Lynne Krohn et al.   ANNALS OF NEUROLOGY

Cognitive and psychiatric symptoms in genetically determined Parkinson’s disease: a systematic review

(2019) R. Piredda et al.   EUROPEAN JOURNAL OF NEUROLOGY

Genetic variability and potential effects on clinical trial outcomes: perspectives in Parkinson’s disease

(2019) Hampton Leonard et al.   JOURNAL OF MEDICAL GENETICS

Reduced sphingolipid hydrolase activities, substrate accumulation and ganglioside decline in Parkinson’s disease

(2019) Mylene Huebecker et al.   Molecular Neurodegeneration

Autophagy lysosomal pathway dysfunction in Parkinson's disease; evidence from human genetics

(2019) Konstantin Senkevich et al.   PARKINSONISM & RELATED DISORDERS

A modulator of wild-type glucocerebrosidase improves pathogenic phenotypes in dopaminergic neuronal models of Parkinson’s disease

(2019) Lena F. Burbulla et al.   Science Translational Medicine

The LRRK2-RAB axis in regulation of vesicle trafficking and α-synuclein propagation

(2019) Eun-Jin Bae et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Systemic AAV9 gene therapy using the synapsin I promoter rescues a mouse model of neuronopathic Gaucher disease but with limited cross-correction potential to astrocytes

(2019) Giulia Massaro et al.   HUMAN MOLECULAR GENETICS

Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies

(2019) Mike A Nalls et al.   LANCET NEUROLOGY

LRRK2 kinase activity regulates lysosomal glucocerebrosidase in neurons derived from Parkinson’s disease patients

(2019) Daniel Ysselstein et al.   Nature Communications

Novel highly selective inhibitors of ubiquitin specific protease 30 (USP30) accelerate mitophagy

(2018) Arthur F. Kluge et al.   BIOORGANIC & MEDICINAL CHEMISTRY LETTERS

Twelve years of experience with miglustat in the treatment of type 1 Gaucher disease: The Spanish ZAGAL project

(2018) Pilar Giraldo et al.   BLOOD CELLS MOLECULES AND DISEASES

Effect of Age-Related Factors on the Pharmacokinetics of Lamotrigine and Potential Implications for Maintenance Dose Optimisation in Future Clinical Trials

(2018) Sven C. van Dijkman et al.   CLINICAL PHARMACOKINETICS

Characterization of Brain Lysosomal Activities in GBA-Related and Sporadic Parkinson’s Disease and Dementia with Lewy Bodies

(2018) Tim E. Moors et al.   MOLECULAR NEUROBIOLOGY

Parkinson's disease phenotype is influenced by the severity of the mutations in the GBA gene

(2018) Avner Thaler et al.   PARKINSONISM & RELATED DISORDERS

LRRK2 protective haplotype and full sequencing study in REM sleep behavior disorder

(2018) Bouchra Ouled Amar Bencheikh et al.   PARKINSONISM & RELATED DISORDERS

Comparative Protein Interaction Network Analysis Identifies Shared and Distinct Functions for the Human ROCO Proteins

(2018) James E. Tomkins et al.   PROTEOMICS

PFE-360-induced LRRK2 inhibition induces reversible, non-adverse renal changes in rats

(2018) Michael Aagaard Andersen et al.   TOXICOLOGY

A comprehensive review of protein kinase inhibitors for cancer therapy

(2018) Radhamani Kannaiyan et al.   Expert Review of Anticancer Therapy

Developing and validating Parkinson’s disease subtypes and their motor and cognitive progression

(2018) Michael Lawton et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Blood lysosphingolipids accumulation in patients with parkinson's disease with glucocerebrosidase 1 mutations

(2018) Sofya Pchelina et al.   MOVEMENT DISORDERS

Parkin and PINK1 mitigate STING-induced inflammation

(2018) Danielle A. Sliter et al.   NATURE

Path mediation analysis reveals GBA impacts Lewy body disease status by increasing α-synuclein levels

(2018) Anna Lisa Gündner et al.   NEUROBIOLOGY OF DISEASE

LRRK2 and Rab GTPases

(2018) Suzanne R. Pfeffer   BIOCHEMICAL SOCIETY TRANSACTIONS

Carriers of both GBA and LRRK2 mutations, compared to carriers of either, in Parkinson's disease: Risk estimates and genotype-phenotype correlations

(2018) Gilad Yahalom et al.   PARKINSONISM & RELATED DISORDERS

MDSGene: Closing Data Gaps in Genotype-Phenotype Correlations of Monogenic Parkinson’s Disease

(2018) Christine Klein et al.   Journal of Parkinsons Disease

Neurite Collapse and Altered ER Ca2+ Control in Human Parkinson Disease Patient iPSC-Derived Neurons with LRRK2 G2019S Mutation

(2018) Joanna A. Korecka et al.   Stem Cell Reports

The heat shock protein amplifier arimoclomol improves refolding, maturation and lysosomal activity of glucocerebrosidase

(2018) Cathrine K. Fog et al.   EBioMedicine

A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments

(2017) Jérôme Stirnemann et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

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

(2017) Yumiko V. Taguchi et al.   JOURNAL OF NEUROSCIENCE

AAV-PHP.B-Mediated Global-Scale Expression in the Mouse Nervous System Enables GBA1 Gene Therapy for Wide Protection from Synucleinopathy

(2017) Giuseppe Morabito et al.   MOLECULAR THERAPY

Penetrance estimate of LRRK2 p.G2019S mutation in individuals of non-Ashkenazi Jewish ancestry

(2017) Annie J. Lee et al.   MOVEMENT DISORDERS

Neuropathology of genetic synucleinopathies with parkinsonism: Review of the literature

(2017) Susanne A. Schneider et al.   MOVEMENT DISORDERS

Oligomeric α-synuclein and glucocerebrosidase activity levels in GBA-associated Parkinson’s disease

(2017) S. Pchelina et al.   NEUROSCIENCE LETTERS

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

(2017) Victoria Berge-Seidl et al.   NEUROSCIENCE LETTERS

Serum lipid alterations in GBA -associated Parkinson's disease

(2017) Leonor Correia Guedes et al.   PARKINSONISM & RELATED DISORDERS

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

(2017) Avner Thaler et al.   PARKINSONISM & RELATED DISORDERS

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

GBA-Associated Parkinson’s Disease: Progression in a Deep Brain Stimulation Cohort

(2017) Vanessa Lythe et al.   Journal of Parkinsons Disease

Systematic proteomic analysis of LRRK2-mediated Rab GTPase phosphorylation establishes a connection to ciliogenesis

(2017) Martin Steger et al.   eLife

Olfaction in Parkin carriers in Chinese patients with Parkinson disease

(2017) Ying Wang et al.   Brain and Behavior

LRRK2 Antisense Oligonucleotides Ameliorate α-Synuclein Inclusion Formation in a Parkinson’s Disease Mouse Model

(2017) Hien Tran Zhao et al.   Molecular Therapy-Nucleic Acids

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

L'RRK de Triomphe: a solution for LRRK2 GTPase activity?

(2016) J. Nixon-Abell et al.   BIOCHEMICAL SOCIETY TRANSACTIONS

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

A New Glucocerebrosidase Chaperone Reduces  -Synuclein and Glycolipid Levels in iPSC-Derived Dopaminergic Neurons from Patients with Gaucher Disease and Parkinsonism

(2016) E. Aflaki et al.   JOURNAL OF NEUROSCIENCE

Neuropsychiatric characteristics of GBA-associated Parkinson disease

(2016) Matthew Swan et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

DNM3 and genetic modifiers of age of onset in LRRK2 Gly2019Ser parkinsonism: a genome-wide linkage and association study

(2016) Joanne Trinh et al.   LANCET NEUROLOGY

Autosomal dominant Parkinson's disease caused by SNCA duplications

(2016) Takuya Konno et al.   PARKINSONISM & RELATED DISORDERS

Non motor subtypes and Parkinson's disease

(2016) Anna Sauerbier et al.   PARKINSONISM & RELATED DISORDERS

ER Stress and Autophagic Perturbations Lead to Elevated Extracellular α-Synuclein in GBA-N370S Parkinson's iPSC-Derived Dopamine Neurons

(2016) Hugo J.R. Fernandes et al.   Stem Cell Reports

Parkinson disease-linked GBA mutation effects reversed by molecular chaperones in human cell and fly models

(2016) Alvaro Sanchez-Martinez et al.   Scientific Reports

Review of miglustat for clinical management in Gaucher disease type 1

(2016) Can Ficicioglu   Therapeutics and Clinical Risk Management

Genetic perspective on the role of the autophagy-lysosome pathway in Parkinson disease

(2015) Ziv Gan-Or et al.   Autophagy

Function and dysfunction of leucine-rich repeat kinase 2 (LRRK2): Parkinson's disease and beyond

(2015) Jae Ryul Bae et al.   BMB Reports

Glucocerebrosidase activity in Parkinson’s disease with and withoutGBAmutations

(2015) Roy N. Alcalay et al.   BRAIN

Parkinson’s Disease Genetic Loci in Rapid Eye Movement Sleep Behavior Disorder

(2015) Z. Gan-Or et al.   JOURNAL OF MOLECULAR NEUROSCIENCE

REM sleep behavior disorder, as assessed by questionnaire, in G2019S LRRK2 mutation PD and carriers

(2015) Rachel Saunders-Pullman et al.   MOVEMENT DISORDERS

Cognitive profile ofLRRK2-related Parkinson's disease

(2015) Sindhu Srivatsal et al.   MOVEMENT DISORDERS

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

LRRK2 mutations in Parkinson disease; a sex effect or lack thereof? A meta-analysis

(2015) Ziv Gan-Or et al.   PARKINSONISM & RELATED DISORDERS

Neuropsychological performance in LRRK2 G2019S carriers with Parkinson's disease

(2015) Roy N. Alcalay et al.   PARKINSONISM & RELATED DISORDERS

Clinical Correlations With Lewy Body Pathology inLRRK2-Related Parkinson Disease

(2015) Lorraine V. Kalia et al.   JAMA Neurology

Off-target Effects in CRISPR/Cas9-mediated Genome Engineering

(2015) Xiao-Hui Zhang et al.   Molecular Therapy-Nucleic Acids

Novel LRRK2 GTP-binding inhibitors reduced degeneration in Parkinson's disease cell and mouse models

(2014) T. Li et al.   HUMAN MOLECULAR GENETICS

Cerebrospinal fluid lysosomal enzymes and alpha-synuclein in Parkinson's disease

(2014) Lucilla Parnetti et al.   MOVEMENT DISORDERS

The association between the LRRK2 G2385R variant and the risk of Parkinson’s disease: a meta-analysis based on 23 case–control studies

(2014) Cheng-long Xie et al.   NEUROLOGICAL SCIENCES

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

(2014) Franziska Richter et al.   Neurotherapeutics

Parkinson Disease Subtypes

(2014) Mary Ann Thenganatt et al.   JAMA Neurology

Saposin C Protects Glucocerebrosidase against α-Synuclein Inhibition

(2013) Thai Leong Yap et al.   BIOCHEMISTRY

Integrating Pathways of Parkinson's Disease in a Molecular Interaction Map

(2013) Kazuhiro A. Fujita et al.   MOLECULAR NEUROBIOLOGY

Genetics of Parkinson's disease – state of the art, 2013

(2013) Vincenzo Bonifati   PARKINSONISM & RELATED DISORDERS

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

Loss of Leucine-Rich Repeat Kinase 2 (LRRK2) in Rats Leads to Progressive Abnormal Phenotypes in Peripheral Organs

(2013) Marco A. S. Baptista et al.   PLoS One

A Multicenter Study of Glucocerebrosidase Mutations in Dementia With Lewy Bodies

(2013) Michael A. Nalls et al.   JAMA Neurology

Clinical and Biochemical Differences in Patients Having Parkinson Disease With vs WithoutGBAMutations

(2013) Lama M. Chahine et al.   JAMA Neurology

Cognitive and Motor Function in Long-DurationPARKIN-Associated Parkinson Disease

(2013) Roy N. Alcalay et al.   JAMA Neurology

Glucocerebrosidase deficiency in substantia nigra of parkinson disease brains

(2012) Matthew E. Gegg et al.   ANNALS OF NEUROLOGY

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

(2012) Zhuo Luan et al.   BRAIN & DEVELOPMENT

LRRK2 knockout mice have an intact dopaminergic system but display alterations in exploratory and motor co-ordination behaviors

(2012) Kelly M Hinkle et al.   Molecular Neurodegeneration

Loss of leucine-rich repeat kinase 2 causes age-dependent bi-phasic alterations of the autophagy pathway

(2012) Youren Tong et al.   Molecular Neurodegeneration

Systematic Review and UK-Based Study ofPARK2 (parkin), PINK1, PARK7 (DJ-1)andLRRK2in early-onset Parkinson's disease

(2012) Laura L. Kilarski et al.   MOVEMENT DISORDERS

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

Targeting Mitochondrial Dysfunction: Role for PINK1 and Parkin in Mitochondrial Quality Control

(2011) Derek P. Narendra et al.   ANTIOXIDANTS & REDOX SIGNALING

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

LRRK2 protein levels are determined by kinase function and are crucial for kidney and lung homeostasis in mice

(2011) Martin C. Herzig et al.   HUMAN MOLECULAR GENETICS

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

Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case–control study

(2011) Owen A Ross et al.   LANCET NEUROLOGY

Phenotype in parkinsonian and nonparkinsonian LRRK2 G2019S mutation carriers

(2011) C. Marras et al.   NEUROLOGY

Olfactory dysfunction in LRRK2 G2019S mutation carriers

(2011) R. Saunders-Pullman et al.   NEUROLOGY

Frequency of Known Mutations in Early-Onset Parkinson Disease

(2010) Roy N. Alcalay et al.   ARCHIVES OF NEUROLOGY

The pharmacological chaperone isofagomine increases the activity of the Gaucher disease L444P mutant form of β-glucosidase

(2010) Richie Khanna et al.   FEBS Journal

Self-report of cognitive impairment and mini-mental state examination performance in PRKN, LRRK2, and GBA carriers with early onset Parkinson's disease

(2010) Roy N. Alcalay et al.   JOURNAL OF CLINICAL AND EXPERIMENTAL NEUROPSYCHOLOGY

The role of parkin in familial and sporadic Parkinson's disease

(2010) Ted M. Dawson et al.   MOVEMENT DISORDERS

A comprehensive analysis of deletions, multiplications, and copy number variations in PARK2

(2010) D. M. Kay et al.   NEUROLOGY

Sphingolipids and gangliosides of the nervous system in membrane function and dysfunction

(2009) Elena Posse de Chaves et al.   FEBS LETTERS

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

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

The leucine rich repeat kinase 2 (LRRK2) G2019S substitution mutation

(2009) Sharon Hassin-Baer et al.   JOURNAL OF NEUROLOGY

Breaking the chains: structure and function of the deubiquitinases

(2009) David Komander et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

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

Glucocerebrosidase Gene Mutations

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

Isofagomine Induced Stabilization of Glucocerebrosidase

(2008) Gregory J. Kornhaber et al.   CHEMBIOCHEM

Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study

(2008) Daniel G Healy et al.   LANCET NEUROLOGY

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

(2008) Z. Gan-Or et al.   NEUROLOGY