标题
New therapeutic approaches to Parkinson's disease targeting GBA, LRRK2 and Parkin
作者
关键词
Parkinson's disease, Genetic targets, Clinical trials, GBA, LRRK2, PRKN
出版物
NEUROPHARMACOLOGY
Volume 202, Issue -, Pages 108822
出版商
Elsevier BV
发表日期
2021-10-08
DOI
10.1016/j.neuropharm.2021.108822
参考文献
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注意:仅列出部分参考文献,下载原文获取全部文献信息。- 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
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