Vesicular Dysfunction and the Pathogenesis of Parkinson’s Disease: Clues From Genetic Studies

Parkinson’s disease-linkedD620N VPS35knockin mice manifest tau neuropathology and dopaminergic neurodegeneration

(2019) Xi Chen et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

DNAJC proteins and pathways to parkinsonism

(2019) Dorien A. Roosen et al.   FEBS Journal

Leucine Rich Repeat Kinase 2: A paradigm for pleiotropy

(2019) Patrick A. Lewis   JOURNAL OF PHYSIOLOGY-LONDON

Functional cooperation of α-synuclein and VAMP2 in synaptic vesicle recycling

(2019) Jichao Sun et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Clathrin heavy chain phosphorylated at T606 plays a role in proper cell division

(2019) Yusuke Yabuno et al.   CELL CYCLE

VPS35 regulates tau phosphorylation and neuropathology in tauopathy

(2019) Alana N. Vagnozzi et al.   MOLECULAR PSYCHIATRY

Spread of α-synuclein pathology through the brain connectome is modulated by selective vulnerability and predicted by network analysis

(2019) Michael X. Henderson et al.   NATURE NEUROSCIENCE

Lewy pathology in Parkinson’s disease consists of crowded organelles and lipid membranes

(2019) Sarah H. Shahmoradian et al.   NATURE NEUROSCIENCE

An integrated transcriptomics and proteomics analysis reveals functional endocytic dysregulation caused by mutations in LRRK2

(2019) Natalie Connor-Robson et al.   NEUROBIOLOGY OF DISEASE

Alzheimer's disease and other neurodegenerative dementias in comorbidity: A clinical and neuropathological overview

(2019) Radoslav Matej et al.   CLINICAL BIOCHEMISTRY

Glucocerebrosidase and its relevance to Parkinson disease

(2019) Jenny Do et al.   Molecular Neurodegeneration

Parkinson's disease-associated mutant LRRK2 phosphorylates Rab7L1 and modifies trans-Golgi morphology

(2018) Tetta Fujimoto et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

The Parkinson's disease VPS35[D620N] mutation enhances LRRK2-mediated Rab protein phosphorylation in mouse and human

(2018) Rafeeq Mir et al.   BIOCHEMICAL JOURNAL

Parkinson Disease from Mendelian Forms to Genetic Susceptibility: New Molecular Insights into the Neurodegeneration Process

(2018) Amin Karimi-Moghadam et al.   CELLULAR AND MOLECULAR NEUROBIOLOGY

Parkinson disease-associated mutations in LRRK2 cause centrosomal defects via Rab8a phosphorylation

(2018) Jesús Madero-Pérez et al.   Molecular Neurodegeneration

Dysregulated phosphorylation of Rab GTPases by LRRK2 induces neurodegeneration

(2018) Ga Ram Jeong et al.   Molecular Neurodegeneration

Distinct α-Synuclein strains and implications for heterogeneity among α-Synucleinopathies

(2018) Chao Peng et al.   NEUROBIOLOGY OF DISEASE

The olfactory bulb as the entry site for prion-like propagation in neurodegenerative diseases

(2018) Nolwen L. Rey et al.   NEUROBIOLOGY OF DISEASE

LRRK2 phosphorylation of auxilin mediates synaptic defects in dopaminergic neurons from patients with Parkinson’s disease

(2018) Maria Nguyen et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

LRRK2 kinase in Parkinson's disease

(2018) Dario R. Alessi et al.   SCIENCE

C-terminal calcium binding of α-synuclein modulates synaptic vesicle interaction

(2018) Janin Lautenschläger et al.   Nature Communications

VPS13A and VPS13C are lipid transport proteins differentially localized at ER contact sites

(2018) Nikit Kumar et al.   JOURNAL OF CELL BIOLOGY

LRRK2 and its substrate Rab GTPases are sequentially targeted onto stressed lysosomes and maintain their homeostasis

(2018) Tomoya Eguchi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Cryo-EM of full-length α-synuclein reveals fibril polymorphs with a common structural kernel

(2018) Binsen Li et al.   Nature Communications

Coding variation in GBA explains the majority of the SYT11-GBA Parkinson's disease GWAS locus

(2018) Cornelis Blauwendraat et al.   MOVEMENT DISORDERS

Triggers, Facilitators, and Aggravators: Redefining Parkinson’s Disease Pathogenesis

(2018) Michaela E. Johnson et al.   TRENDS IN NEUROSCIENCES

A pathway for Parkinson’s Disease LRRK2 kinase to block primary cilia and Sonic hedgehog signaling in the brain

(2018) Herschel S Dhekne et al.   eLife

RAB7L1-Mediated Relocalization of LRRK2 to the Golgi Complex Causes Centrosomal Deficits via RAB8A

(2018) Jesús Madero-Pérez et al.   Frontiers in Molecular Neuroscience

The role of monogenic genes in idiopathic Parkinson’s disease

(2018) Xylena Reed et al.   NEUROBIOLOGY OF DISEASE

LRRK2 phosphorylates membrane-bound Rabs and is activated by GTP-bound Rab7L1 to promote recruitment to the trans-Golgi network

(2017) Zhiyong Liu et al.   HUMAN MOLECULAR GENETICS

The Vps13p–Cdc31p complex is directly required for TGN late endosome transport and TGN homotypic fusion

(2017) Mithu De et al.   JOURNAL OF CELL BIOLOGY

Parkinson's Disease-Associated LRRK2 Hyperactive Kinase Mutant Disrupts Synaptic Vesicle Trafficking in Ventral Midbrain Neurons

(2017) Ping-Yue Pan et al.   JOURNAL OF NEUROSCIENCE

Neuropathology of genetic synucleinopathies with parkinsonism: Review of the literature

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

Non-motor features of Parkinson disease

(2017) Anthony H.V. Schapira et al.   NATURE REVIEWS NEUROSCIENCE

Parkinson Sac Domain Mutation in Synaptojanin 1 Impairs Clathrin Uncoating at Synapses and Triggers Dystrophic Changes in Dopaminergic Axons

(2017) Mian Cao et al.   NEURON

Synucleins Have Multiple Effects on Presynaptic Architecture

(2017) Karina J. Vargas et al.   Cell Reports

In Situ Peroxidase Labeling and Mass-Spectrometry Connects Alpha-Synuclein Directly to Endocytic Trafficking and mRNA Metabolism in Neurons

(2017) Chee Yeun Chung et al.   Cell Systems

Age-dependent dopamine transporter dysfunction and Serine129 phospho-α-synuclein overload in G2019S LRRK2 mice

(2017) Francesco Longo et al.   Acta Neuropathologica Communications

Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy

(2016) Suzanne Lesage et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Novel Nonsense Mutation in DNAJC 6 Expands the Phenotype of Autosomal-Recessive Juvenile-Onset Parkinson's Disease

(2016) Liena Elbaghir Omer Elsayed et al.   ANNALS OF NEUROLOGY

Parkinson's disease: Autoimmunity and neuroinflammation

(2016) Armando De Virgilio et al.   AUTOIMMUNITY REVIEWS

Human R1441C LRRK2 regulates the synaptic vesicle proteome and phosphoproteome in aDrosophilamodel of Parkinson’s disease

(2016) Md Shariful Islam et al.   HUMAN MOLECULAR GENETICS

Autophagic lysosome reformation dysfunction in glucocerebrosidase deficient cells: relevance to Parkinson disease

(2016) Joana Magalhaes et al.   HUMAN MOLECULAR GENETICS

Activation of  -Glucocerebrosidase Reduces Pathological  -Synuclein and Restores Lysosomal Function in Parkinson's Patient Midbrain Neurons

(2016) J. R. Mazzulli et al.   JOURNAL OF NEUROSCIENCE

A Drosophila Model of Neuronopathic Gaucher Disease Demonstrates Lysosomal-Autophagic Defects and Altered mTOR Signalling and Is Functionally Rescued by Rapamycin

(2016) Kerri J. Kinghorn et al.   JOURNAL OF NEUROSCIENCE

Structural disorder of monomeric α-synuclein persists in mammalian cells

(2016) Francois-Xavier Theillet et al.   NATURE

Parkinson-associated risk variant in distal enhancer of α-synuclein modulates target gene expression

(2016) Frank Soldner et al.   NATURE

Analysis of DNAJC13 mutations in French-Canadian/French cohort of Parkinson's disease

(2016) Jay P. Ross et al.   NEUROBIOLOGY OF AGING

Identification of a novel homozygous mutation Arg459Pro in SYNJ1 gene of an Indian family with autosomal recessive juvenile Parkinsonism

(2016) Laxmi Kirola et al.   PARKINSONISM & RELATED DISORDERS

The Parkinson’s disease-associated genes ATP13A2 and SYT11 regulate autophagy via a common pathway

(2016) Carla F. Bento et al.   Nature Communications

A Versatile and Clearable Nanocarbon Theranostic Based on Carbon Dots and Gadolinium Metallofullerene Nanocrystals

(2016) Mirong Guan et al.   Advanced Healthcare Materials

shRNA-Based Screen Identifies Endocytic Recycling Pathway Components That Act as Genetic Modifiers of Alpha-Synuclein Aggregation, Secretion and Toxicity

(2016) Susana A. Gonçalves et al.   PLoS Genetics

Phosphoproteomics reveals that Parkinson's disease kinase LRRK2 regulates a subset of Rab GTPases

(2016) Martin Steger et al.   eLife

Vacuolar Protein Sorting Genes in Parkinson's Disease: A Re-appraisal of Mutations Detection Rate and Neurobiology of Disease

(2016) Stefano Gambardella et al.   Frontiers in Neuroscience

The 4p16.3 Parkinson Disease Risk Locus Is Associated with GAK Expression and Genes Involved with the Synaptic Vesicle Membrane

(2016) Michael W. Nagle et al.   PLoS One

DNAJC13 p.Asn855Ser mutation screening in Parkinson's disease and pathologically confirmed Lewy body disease patients

(2015) O. Lorenzo-Betancor et al.   EUROPEAN JOURNAL OF NEUROLOGY

Cellular processes associated with LRRK2 function and dysfunction

(2015) Rebecca Wallings et al.   FEBS Journal

Biomarkers of Parkinson’s disease: Present and future

(2015) Diane B. Miller et al.   METABOLISM-CLINICAL AND EXPERIMENTAL

The RAB39B p.G192R mutation causes X-linked dominant Parkinson’s disease

(2015) Ignacio F. Mata et al.   Molecular Neurodegeneration

Impaired intracellular trafficking defines early Parkinson's disease

(2015) Benjamin H.M. Hunn et al.   TRENDS IN NEUROSCIENCES

Computational analysis of the LRRK2 interactome

(2015) Claudia Manzoni et al.   PeerJ

Mutations in RAB39B Cause X-Linked Intellectual Disability and Early-Onset Parkinson Disease with α-Synuclein Pathology

(2014) Gabrielle R. Wilson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2014) Karen E. Murphy et al.   BRAIN

VPS35 and DNAJC13 disease-causing variants in essential tremor

(2014) Alex Rajput et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The role of the LRRK2 gene in Parkinsonism

(2014) Jie-Qiong Li et al.   Molecular Neurodegeneration

DNAJC13genetic variants in parkinsonism

(2014) Emil K. Gustavsson et al.   MOVEMENT DISORDERS

Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease

(2014) Mike A Nalls et al.   NATURE GENETICS

Conditional expression of Parkinson's disease-related R1441C LRRK2 in midbrain dopaminergic neurons of mice causes nuclear abnormalities without neurodegeneration

(2014) Elpida Tsika et al.   NEUROBIOLOGY OF DISEASE

Unbiased screen for interactors of leucine-rich repeat kinase 2 supports a common pathway for sporadic and familial Parkinson disease

(2014) A. Beilina et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

α-Synucleinopathy associated with G51D SNCA mutation: a link between Parkinson’s disease and multiple system atrophy?

(2013) Aoife P. Kiely et al.   ACTA NEUROPATHOLOGICA

Pathogenic Parkinson’s disease mutations across the functional domains of LRRK2 alter the autophagic/lysosomal response to starvation

(2013) Claudia Manzoni et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Inhibition of LRRK2 kinase activity stimulates macroautophagy

(2013) Claudia Manzoni et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Endogenous alpha-synuclein influences the number of dopaminergic neurons in mouse substantia nigra

(2013) Pablo Garcia-Reitboeck et al.   EXPERIMENTAL NEUROLOGY

DNAJC13 mutations in Parkinson disease

(2013) Carles Vilariño-Güell et al.   HUMAN MOLECULAR GENETICS

Mutation in theSYNJ1Gene Associated with Autosomal Recessive, Early-Onset Parkinsonism

(2013) Marialuisa Quadri et al.   HUMAN MUTATION

The Sac1 Domain ofSYNJ1Identified Mutated in a Family with Early-Onset Progressive Parkinsonism with Generalized Seizures

(2013) Catharine E. Krebs et al.   HUMAN MUTATION

In VivoCross-linking Reveals Principally Oligomeric Forms of α-Synuclein and β-Synuclein in Neurons and Non-neural Cells

(2013) Ulf Dettmer et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The Neurobiology of LRRK2 and its Role in the Pathogenesis of Parkinson’s Disease

(2013) Hardy J. Rideout et al.   NEUROCHEMICAL RESEARCH

RAB7L1 Interacts with LRRK2 to Modify Intraneuronal Protein Sorting and Parkinson’s Disease Risk

(2013) David A. MacLeod et al.   NEURON

The pathology roadmap in Parkinson disease

(2013) D. James Surmeier et al.   Prion

Protein degradation pathways in Parkinson’s disease: curse or blessing

(2012) Darius Ebrahimi-Fakhari et al.   ACTA NEUROPATHOLOGICA

Glucocerebrosidase deficiency in substantia nigra of parkinson disease brains

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

Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis

(2012) Jose Bras et al.   HUMAN MOLECULAR GENETICS

α-Synuclein in Central Nervous System and from Erythrocytes, Mammalian Cells, andEscherichia coliExists Predominantly as Disordered Monomer

(2012) Bruno Fauvet et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

LRRK2 Inhibition Attenuates Microglial Inflammatory Responses

(2012) M. S. Moehle et al.   JOURNAL OF NEUROSCIENCE

Deficiency of ATP13A2 Leads to Lysosomal Dysfunction,  -Synuclein Accumulation, and Neurotoxicity

(2012) M. Usenovic et al.   JOURNAL OF NEUROSCIENCE

Lysosome-dependent pathways as a unifying theme in Parkinson's disease

(2012) George K. Tofaris   MOVEMENT DISORDERS

DNAJC6 is responsible for juvenile parkinsonism with phenotypic variability

(2012) Çiğdem Köroğlu et al.   PARKINSONISM & RELATED DISORDERS

A Deleterious Mutation in DNAJC6 Encoding the Neuronal-Specific Clathrin-Uncoating Co-Chaperone Auxilin, Is Associated with Juvenile Parkinsonism

(2012) Simon Edvardson et al.   PLoS One

Loss of P-type ATPase ATP13A2/PARK9 function induces general lysosomal deficiency and leads to Parkinson disease neurodegeneration

(2012) B. Dehay et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Pathological  -Synuclein Transmission Initiates Parkinson-like Neurodegeneration in Nontransgenic Mice

(2012) K. C. Luk et al.   SCIENCE

A Mutation in VPS35, Encoding a Subunit of the Retromer Complex, Causes Late-Onset Parkinson Disease

(2011) Alexander Zimprich et al.   AMERICAN JOURNAL OF HUMAN GENETICS

VPS35 Mutations in Parkinson Disease

(2011) Carles Vilariño-Güell et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Gaucher Disease Glucocerebrosidase and α-Synuclein Form a Bidirectional Pathogenic Loop in Synucleinopathies

(2011) Joseph R. Mazzulli et al.   CELL

α-Synuclein occurs physiologically as a helically folded tetramer that resists aggregation

(2011) Tim Bartels et al.   NATURE

The neuropathology, pathophysiology and genetics of multiple system atrophy

(2011) Z. Ahmed et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

CNS expression of glucocerebrosidase corrects  -synuclein pathology and memory in a mouse model of Gaucher-related synucleinopathy

(2011) S. P. Sardi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Calcium Control of Neurotransmitter Release

(2011) T. C. Sudhof   Cold Spring Harbor Perspectives in Biology

Mutations in the Small GTPase Gene RAB39B Are Responsible for X-linked Mental Retardation Associated with Autism, Epilepsy, and Macrocephaly

(2010) Maila Giannandrea et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Oxidative Stress in Parkinson's Disease

(2010) Chun Zhou et al.   Annals of the New York Academy of Sciences

Parkinson's disease symptoms: The patient's perspective

(2010) Marios Politis et al.   MOVEMENT DISORDERS

Juvenile dystonia-parkinsonism and dementia caused by a novel ATP13A2 frameshift mutation

(2010) David Crosiers et al.   PARKINSONISM & RELATED DISORDERS

 -Synuclein Promotes SNARE-Complex Assembly in Vivo and in Vitro

(2010) J. Burre et al.   SCIENCE

Multiple Tight Phospholipid-Binding Modes of α-Synuclein Revealed by Solution NMR Spectroscopy

(2009) Christina R. Bodner et al.   JOURNAL OF MOLECULAR BIOLOGY

Genome-wide association study reveals genetic risk underlying Parkinson's disease

(2009) Javier Simón-Sánchez et al.   NATURE GENETICS

Leucine-Rich Repeat Kinase 2 Regulates the Progression of Neuropathology Induced by Parkinson's-Disease-Related Mutant α-synuclein

(2009) Xian Lin et al.   NEURON

Multicenter Analysis of Glucocerebrosidase Mutations in Parkinson's Disease

(2009) E. Sidransky et al.   NEW ENGLAND JOURNAL OF MEDICINE

Structural characterization of α-synuclein in an aggregation prone state

(2009) Min-Kyu Cho et al.   PROTEIN SCIENCE

Analysis of Articulation Between Clathrin and Retromer in Retrograde Sorting on Early Endosomes

(2009) Vincent Popoff et al.   TRAFFIC

Human RME-8 Is Involved in Membrane Trafficking through Early Endosomes

(2008) Akemi Fujibayashi et al.   CELL STRUCTURE AND FUNCTION

Retromer

(2008) Juan S Bonifacino et al.   CURRENT OPINION IN CELL BIOLOGY

Structure of the Roc–COR domain tandem of C. tepidum, a prokaryotic homologue of the human LRRK2 Parkinson kinase

(2008) Katja Gotthardt et al.   EMBO JOURNAL

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

(2008) Kathleen S. Hruska et al.   HUMAN MUTATION

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

(2008) Daniel G Healy et al.   LANCET NEUROLOGY

Essential Role of Cyclin-G–associated Kinase (Auxilin-2) in Developing and Mature Mice

(2008) Dong-won Lee et al.   MOLECULAR BIOLOGY OF THE CELL