Recent advances in Parkinson’s disease genetics

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

G51D α-synuclein mutation causes a novel Parkinsonian-pyramidal syndrome

(2013) Suzanne Lesage et al.   ANNALS OF NEUROLOGY

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

(2013) Sophie E. Winder-Rhodes et al.   BRAIN

Lewy body pathology in a patient with a homozygousParkindeletion

(2013) Saori Miyakawa et al.   MOVEMENT DISORDERS

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

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

Whole exome sequencing of rare variants in EIF4G1 and VPS35 in Parkinson disease

(2013) K. Nuytemans et al.   NEUROLOGY

A novel  -synuclein missense mutation in Parkinson disease

(2013) C. Proukakis et al.   NEUROLOGY

Glucocerebrosidase deficiency in substantia nigra of parkinson disease brains

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

A pathway-based analysis provides additional support for an immune-related genetic susceptibility to Parkinson's disease

(2012) Peter Holmans et al.   HUMAN MOLECULAR GENETICS

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

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

Rhomboid Protease PARL Mediates the Mitochondrial Membrane Potential Loss-induced Cleavage of PGAM5

(2012) Shiori Sekine et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Voltage-dependent Anion Channels (VDACs) Recruit Parkin to Defective Mitochondria to Promote Mitochondrial Autophagy

(2012) Yu Sun et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants

(2012) Manu Sharma et al.   JOURNAL OF MEDICAL GENETICS

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

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

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

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

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

VPS35mutation in Japanese patients with typical Parkinson's disease

(2012) Maya Ando et al.   MOVEMENT DISORDERS

100 years of Lewy pathology

(2012) Michel Goedert et al.   Nature Reviews Neurology

Tau acts as an independent genetic risk factor in pathologically proven PD

(2012) Gavin Charlesworth et al.   NEUROBIOLOGY OF AGING

EIF4G1 in familial Parkinson's disease: pathogenic mutations or rare benign variants?

(2012) Suzanne Lesage et al.   NEUROBIOLOGY OF AGING

Supportive evidence for 11 loci from genome-wide association studies in Parkinson's disease

(2012) Lasse Pihlstrøm et al.   NEUROBIOLOGY OF AGING

Variants in eukaryotic translation initiation factor 4G1 in sporadic Parkinson’s disease

(2012) Eva C. Schulte et al.   NEUROGENETICS

Large-scale replication and heterogeneity in Parkinson disease genetic loci

(2012) M. Sharma et al.   NEUROLOGY

Identification of VPS35 mutations replicated in French families with Parkinson disease

(2012) S. Lesage et al.   NEUROLOGY

Study of the genetic variability in a Parkinson's Disease gene: EIF4G1

(2012) Arianna Tucci et al.   NEUROSCIENCE LETTERS

Cooperative Genome-Wide Analysis Shows Increased Homozygosity in Early Onset Parkinson's Disease

(2012) Javier Simón-Sánchez et al.   PLoS One

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

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

Mitochondrial Quality Control Mediated by PINK1 and Parkin: Links to Parkinsonism

(2012) D. Narendra et al.   Cold Spring Harbor Perspectives in Biology

Parkinson's Disease–Associated Kinase PINK1 Regulates Miro Protein Level and Axonal Transport of Mitochondria

(2012) Song Liu et al.   PLoS Genetics

Translation Initiator EIF4G1 Mutations in Familial Parkinson Disease

(2011) Marie-Christine Chartier-Harlin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

VPS35 Mutations in Parkinson Disease

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

Meta-analysis of Parkinson's Disease: Identification of a novel locus, RIT2

(2011) Nathan Pankratz et al.   ANNALS OF NEUROLOGY

Genome-Wide association study identifies candidate genes for Parkinson's disease in an Ashkenazi Jewish population

(2011) Xinmin Liu et al.   BMC Medical Genetics

PARIS (ZNF746) Repression of PGC-1α Contributes to Neurodegeneration in Parkinson's Disease

(2011) Joo-Ho Shin et al.   CELL

PINK1 and Parkin Target Miro for Phosphorylation and Degradation to Arrest Mitochondrial Motility

(2011) Xinnan Wang et al.   CELL

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

(2011) Joseph R. Mazzulli et al.   CELL

A generalizable hypothesis for the genetic architecture of disease: pleomorphic risk loci

(2011) A. Singleton et al.   HUMAN MOLECULAR GENETICS

Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies

(2011)   LANCET

The PLA2G6 gene in early-onset Parkinson's disease

(2011) Kai Michael Kauther et al.   MOVEMENT DISORDERS

Screening for VPS35 mutations in Parkinson's disease

(2011) Una-Marie Sheerin et al.   NEUROBIOLOGY OF AGING

Mitochondria: The Next (Neurode)Generation

(2011) Eric A. Schon et al.   NEURON

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 Two-Stage Meta-Analysis Identifies Several New Loci for Parkinson's Disease

(2011) et al.   PLoS Genetics

Genome-Wide Association Study Confirms SNPs inSNCAand theMAPTRegion as Common Risk Factors for Parkinson Disease

(2010) Todd L. Edwards et al.   ANNALS OF HUMAN GENETICS

Mitophagy and Parkinson's disease: The PINK1–parkin link

(2010) Emma Deas et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Parkinson’s disease and cancer risk: a systematic review and meta-analysis

(2010) Archna Bajaj et al.   CANCER CAUSES & CONTROL

Genome-wide association study confirms BST1 and suggests a locus on 12q24 as the risk loci for Parkinson's disease in the European population

(2010) M. Saad et al.   HUMAN MOLECULAR GENETICS

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

Dissection of the genetics of Parkinson's disease identifies an additional association 5' of SNCA and multiple associated haplotypes at 17q21

(2010) et al.   HUMAN MOLECULAR GENETICS

PINK1 cleavage at position A103 by the mitochondrial protease PARL

(2010) Emma Deas et al.   HUMAN MOLECULAR GENETICS

Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update

(2010) Karen Nuytemans et al.   HUMAN MUTATION

Association of the human leucocyte antigen region with susceptibility to Parkinson's disease

(2010) M. Saiki et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations

(2010) Coro Paisán-Ruiz et al.   MOVEMENT DISORDERS

LRRK2G2019S mutations are associated with an increased cancer risk in Parkinson disease

(2010) Rachel Saunders-Pullman et al.   MOVEMENT DISORDERS

PINK1/Parkin-mediated mitophagy is dependent on VDAC1 and p62/SQSTM1

(2010) Sven Geisler et al.   NATURE CELL BIOLOGY

Common genetic variation in the HLA region is associated with late-onset sporadic Parkinson's disease

(2010) Taye H Hamza et al.   NATURE GENETICS

Mechanisms of mitophagy

(2010) Richard J. Youle et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

The role of leucine-rich repeat kinase 2 (LRRK2) in Parkinson's disease

(2010) Mark R. Cookson   NATURE REVIEWS NEUROSCIENCE

Genetic determinants at the interface of cancer and neurodegenerative disease

(2010) L G T Morris et al.   ONCOGENE

Drosophila Parkin requires PINK1 for mitochondrial translocation and ubiquitinates Mitofusin

(2010) E. Ziviani et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Cancer and Neurodegeneration: Between the Devil and the Deep Blue Sea

(2010) Hélène Plun-Favreau et al.   PLoS Genetics

The function of ROCO proteins in health and disease

(2009) Patrick A. Lewis   BIOLOGY OF THE CELL

Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease

(2009) Juliane Neumann et al.   BRAIN

The PINK1/Parkin pathway: a mitochondrial quality control system?

(2009) Alexander J. Whitworth et al.   JOURNAL OF BIOENERGETICS AND BIOMEMBRANES

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

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

Parkinson's disease

(2009) Andrew J Lees et al.   LANCET

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

(2009) Sonia Gandhi et al.   MOLECULAR CELL

Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease

(2009) Wataru Satake et al.   NATURE GENETICS

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

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

Genomewide Association Studies and Human Disease

(2009) John Hardy et al.   NEW ENGLAND JOURNAL OF MEDICINE

Multicenter Analysis of Glucocerebrosidase Mutations in Parkinson's Disease

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

Parkin and PINK1 parkinsonism may represent nigral mitochondrial cytopathies distinct from Lewy body Parkinson's disease

(2009) J. Eric Ahlskog   PARKINSONISM & RELATED DISORDERS

Characterization of PLA2G6 as a locus for dystonia-parkinsonism

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

The Gly2019Ser mutation in LRRK2is not fully penetrant in familial Parkinson's disease: the GenePD study

(2008) Jeanne C Latourelle et al.   BMC Medicine

Genomewide association study for susceptibility genes contributing to familial Parkinson disease

(2008) Nathan Pankratz et al.   HUMAN GENETICS

Parkin is recruited selectively to impaired mitochondria and promotes their autophagy

(2008) Derek Narendra et al.   JOURNAL OF CELL BIOLOGY

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

(2008) Daniel G Healy et al.   LANCET NEUROLOGY

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

(2008) A. D. Fonzo et al.   NEUROLOGY

Glial reactions in Parkinson's disease

(2007) Patrick L. McGeer et al.   MOVEMENT DISORDERS