The genetics of Parkinson's disease

Ambroxol improves lysosomal biochemistry in glucocerebrosidase mutation-linked Parkinson disease cells

(2014) Alisdair McNeill et al.   BRAIN

Analysis of Parkinson's disease brain-derived DNA for alpha-synuclein coding somatic mutations

(2014) Christos Proukakis et al.   MOVEMENT DISORDERS

Parkin and mitochondrial quality control: toward assembling the puzzle

(2014) Konstanze F. Winklhofer   TRENDS IN CELL BIOLOGY

Emerging Candidate Biomarkers for Parkinson’s Disease: a Review

(2014) Enrico Saracch   Aging and Disease

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

Genome wide association studies (GWAS) and common forms of human epilepsy

(2013) Russell J. Buono   EPILEPSY & BEHAVIOR

Reduced α-synuclein levels in cerebrospinal fluid in Parkinson's disease are unrelated to clinical and imaging measures of disease severity

(2013) K. D. van Dijk et al.   EUROPEAN JOURNAL OF NEUROLOGY

Cerebrospinal fluid α-synuclein levels in Parkinson's disease - changed or unchanged?

(2013) H. Zetterberg et al.   EUROPEAN JOURNAL OF NEUROLOGY

Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease

(2013) David N. Cooper et al.   HUMAN GENETICS

PREDICT-PD: Identifying risk of Parkinson's disease in the community: methods and baseline results

(2013) A. J. Noyce et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

The CamPaIGN study of Parkinson's disease: 10-year outlook in an incident population-based cohort

(2013) Caroline H Williams-Gray et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Tau pathology and neurodegeneration

(2013) Maria Grazia Spillantini et al.   LANCET NEUROLOGY

Alpha-synuclein p.H50Q, a novel pathogenic mutation for Parkinson's disease

(2013) Silke Appel-Cresswell et al.   MOVEMENT DISORDERS

TheVPS35gene and Parkinson's disease

(2013) Hao Deng et al.   MOVEMENT DISORDERS

Clinicogenetic study of GBA mutations in patients with familial Parkinson's disease

(2013) Yuanzhe Li et al.   NEUROBIOLOGY OF AGING

Autophagy in aging and neurodegenerative diseases: implications for pathogenesis and therapy

(2013) Chen-Chen Tan et al.   NEUROBIOLOGY OF AGING

A novel  -synuclein missense mutation in Parkinson disease

(2013) C. Proukakis et al.   NEUROLOGY

Two-stage association study and meta-analysis of mitochondrial DNA variants in Parkinson disease

(2013) G. Hudson et al.   NEUROLOGY

Epigenetic Landscape of Parkinson’s Disease: Emerging Role in Disease Mechanisms and Therapeutic Modalities

(2013) Navneet Ammal Kaidery et al.   Neurotherapeutics

Dopaminergic Neuronal Imaging in Genetic Parkinson's Disease: Insights into Pathogenesis

(2013) Alisdair McNeill et al.   PLoS One

Structure and Function of Parkin, PINK1, and DJ-1, the Three Musketeers of Neuroprotection

(2013) Jean-François Trempe et al.   Frontiers in Neurology

ATP13A2 (PARK9) protein levels are reduced in brain tissue of cases with Lewy bodies

(2013) Karen E Murphy et al.   Acta Neuropathologica Communications

Glucocerebrosidase deficiency in substantia nigra of parkinson disease brains

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

Meta-analysis of early nonmotor features and risk factors for Parkinson disease

(2012) Alastair J. Noyce et al.   ANNALS OF NEUROLOGY

EFNS/MDS-ES recommendations for the diagnosis of Parkinson's disease

(2012) A. Berardelli et al.   EUROPEAN JOURNAL OF NEUROLOGY

A Two-Platform Design for Next Generation Genome-Wide Association Studies

(2012) Joshua N. Sampson et al.   GENETIC EPIDEMIOLOGY

Detecting Rare Variant Effects Using Extreme Phenotype Sampling in Sequencing Association Studies

(2012) Ian J. Barnett et al.   GENETIC EPIDEMIOLOGY

Using genome-wide complex trait analysis to quantify 'missing heritability' in Parkinson's disease

(2012) M. F. Keller et al.   HUMAN MOLECULAR GENETICS

Cell metabolism affects selective vulnerability in PINK1-associated Parkinson's disease

(2012) Zhi Yao et al.   JOURNAL OF CELL SCIENCE

Parkinson’s disease-associated DJ-1 mutations impair mitochondrial dynamics and cause mitochondrial dysfunction

(2012) Xinglong Wang et al.   JOURNAL OF NEUROCHEMISTRY

A clinical and family history study of Parkinson's disease in heterozygousglucocerebrosidasemutation carriers

(2012) Alisdair McNeill et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

The link between the GBA gene and parkinsonism

(2012) Ellen Sidransky et al.   LANCET NEUROLOGY

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

Genetic influences on cognitive decline in Parkinson's disease

(2012) James F. Morley et al.   MOVEMENT DISORDERS

Glucocerebrosidase inhibition causes mitochondrial dysfunction and free radical damage

(2012) Michael W.J. Cleeter et al.   NEUROCHEMISTRY INTERNATIONAL

Penetrance of Parkinson disease in glucocerebrosidase gene mutation carriers

(2012) M. Anheim et al.   NEUROLOGY

LRRK2 I2020T mutation is associated with tau pathology

(2012) Sachiko Ujiie et al.   PARKINSONISM & RELATED DISORDERS

LRRK2 and Human Disease: A Complicated Question or a Question of Complexes?

(2012) P. A. Lewis et al.   Science Signaling

PINK1 is activated by mitochondrial membrane potential depolarization and stimulates Parkin E3 ligase activity by phosphorylating Serine 65

(2012) C. Kondapalli et al.   Open Biology

Comprehensive Research Synopsis and Systematic Meta-Analyses in Parkinson's Disease Genetics: The PDGene Database

(2012) Christina M. Lill et al.   PLoS Genetics

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

After GWAS: Searching for Genetic Risk for Schizophrenia and Bipolar Disorder

(2011) Elliot S. Gershon et al.   AMERICAN JOURNAL OF PSYCHIATRY

Acid β-glucosidase mutants linked to gaucher disease, parkinson disease, and lewy body dementia alter α-synuclein processing

(2011) Valerie Cullen et al.   ANNALS OF NEUROLOGY

Dementia Risk in Parkinson Disease

(2011) Núria Setó-Salvia et al.   ARCHIVES OF NEUROLOGY

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

(2011) Joseph R. Mazzulli et al.   CELL

Phase analysis identifies compound heterozygous deletions of the PARK2 gene in patients with early-onset Parkinson disease

(2011) S Y Kim et al.   CLINICAL GENETICS

MicroRNA profiling of Parkinson's disease brains identifies early downregulation of miR-34b/c which modulate mitochondrial function

(2011) Elena Miñones-Moyano et al.   HUMAN MOLECULAR GENETICS

Identification of blood microRNAs associated to Parkinsońs disease

(2011) Regina Margis et al.   JOURNAL OF BIOTECHNOLOGY

POLG1-Related and other “Mitochondrial Parkinsonisms”: an Overview

(2011) Daniele Orsucci et al.   JOURNAL OF MOLECULAR NEUROSCIENCE

LRRK2 Controls Synaptic Vesicle Storage and Mobilization within the Recycling Pool

(2011) G. Piccoli et al.   JOURNAL OF NEUROSCIENCE

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

(2011) Owen A Ross et al.   LANCET NEUROLOGY

Mitochondrial aging is accelerated by anti-retroviral therapy through the clonal expansion of mtDNA mutations

(2011) Brendan A I Payne et al.   NATURE GENETICS

Web-Based Genome-Wide Association Study Identifies Two Novel Loci and a Substantial Genetic Component for Parkinson's Disease

(2011) Chuong B. Do et al.   PLoS Genetics

A Tangled Web – Tau and Sporadic Parkinson's Disease

(2011) Selina Wray et al.   Frontiers in Psychiatry

The incidence of Parkinsonism in patients with type 1 Gaucher disease: Data from the ICGG Gaucher Registry

(2010) Barry Rosenbloom et al.   BLOOD CELLS MOLECULES AND DISEASES

PINK1-linked parkinsonism is associated with Lewy body pathology

(2010) Lluís Samaranch et al.   BRAIN

Mitofusin 1 and mitofusin 2 are ubiquitinated in a PINK1/parkin-dependent manner upon induction of mitophagy

(2010) Matthew E. Gegg et al.   HUMAN MOLECULAR GENETICS

Perturbations in Mitochondrial Dynamics Induced by Human Mutant PINK1 Can Be Rescued by the Mitochondrial Division Inhibitor mdivi-1

(2010) Mei Cui et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Retromer-mediated direct sorting is required for proper endosomal recycling of the mammalian iron transporter DMT1

(2010) M. Tabuchi et al.   JOURNAL OF CELL SCIENCE

Methylation Regulates Alpha-Synuclein Expression and Is Decreased in Parkinson's Disease Patients' Brains

(2010) A. Jowaed et al.   JOURNAL OF NEUROSCIENCE

Phenylketonuria

(2010) Nenad Blau et al.   LANCET

HIV, HAART, and Parkinson's disease: Co-incidence or pathogenetic link?

(2010) Stephen Tisch et al.   MOVEMENT DISORDERS

Widespread Lewy body and tau accumulation in childhood and adult onset dystonia-parkinsonism cases with PLA2G6 mutations

(2010) Coro Paisán-Ruiz et al.   NEUROBIOLOGY OF AGING

Adult neurogenesis and neurite outgrowth are impaired in LRRK2 G2019S mice

(2010) B. Winner et al.   NEUROBIOLOGY OF DISEASE

A comparative study of Lrrk2 function in primary neuronal cultures

(2010) Justus C. Dächsel et al.   PARKINSONISM & RELATED DISORDERS

Mutant Parkin Impairs Mitochondrial Function and Morphology in Human Fibroblasts

(2010) Anne Grünewald et al.   PLoS One

CpG Demethylation Enhances Alpha-Synuclein Expression and Affects the Pathogenesis of Parkinson's Disease

(2010) Lumine Matsumoto et al.   PLoS One

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

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

Loss of Parkin or PINK1 Function Increases Drp1-dependent Mitochondrial Fragmentation

(2009) A. Kathrin Lutz et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

PINK1-Associated Parkinson's Disease Is Caused by Neuronal Vulnerability to Calcium-Induced Cell Death

(2009) Sonia Gandhi et al.   MOLECULAR CELL

PARKINSONISM IN HIV-INFECTED PATIENTS ON HIGHLY ACTIVE ANTIRETROVIRAL THERAPY

(2009) S. Tisch et al.   NEUROLOGY

α-Synuclein is differentially expressed in mitochondria from different rat brain regions and dose-dependently down-regulates complex I activity

(2009) Guangwei Liu et al.   NEUROSCIENCE LETTERS

Alpha-synuclein-glucocerebrosidase interactions in pharmacological Gaucher models: A biological link between Gaucher disease and parkinsonism

(2009) Amy B. Manning-Boğ et al.   NEUROTOXICOLOGY

Multicenter Analysis of Glucocerebrosidase Mutations in Parkinson's Disease

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

Worldwide frequency of G2019S LRRK2 mutation in Parkinson's disease: A systematic review

(2009) L. Correia Guedes et al.   PARKINSONISM & RELATED DISORDERS

Inclusion formation and neuronal cell death through neuron-to-neuron transmission of  -synuclein

(2009) P. Desplats et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Heterogeneity of penetrance in familial amyloid polyneuropathy, ATTR Val30Met, in the Swedish population

(2008) Urban Hellman et al.   AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS

Characterization of PLA2G6 as a locus for dystonia-parkinsonism

(2008) Coro Paisan-Ruiz et al.   ANNALS OF NEUROLOGY

Mutation Analysis of the PINK1 Gene in 391 Patients With Parkinson Disease

(2008) Ryuya Kumazawa et al.   ARCHIVES OF NEUROLOGY

Retromer

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

Phenotype, diagnosis, and treatment of Gaucher's disease

(2008) Gregory A Grabowski   LANCET

LRRK2 Gly2019Ser penetrance in Arab–Berber patients from Tunisia: a case-control genetic study

(2008) Mary M Hulihan et al.   LANCET NEUROLOGY

Mitochondria in the aetiology and pathogenesis of Parkinson's disease

(2008) Anthony HV Schapira   LANCET NEUROLOGY

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

(2008) Daniel G Healy et al.   LANCET NEUROLOGY

Wingless secretion promotes and requires retromer-dependent cycling of Wntless

(2008) Fillip Port et al.   NATURE CELL BIOLOGY

Lewy body–like pathology in long-term embryonic nigral transplants in Parkinson's disease

(2008) Jeffrey H Kordower et al.   NATURE MEDICINE

FBXO7 mutations cause autosomal recessive, early-onset parkinsonian-pyramidal syndrome

(2008) A. D. Fonzo et al.   NEUROLOGY

PINK1 Is Necessary for Long Term Survival and Mitochondrial Function in Human Dopaminergic Neurons

(2008) Alison Wood-Kaczmar et al.   PLoS One