Genetics in Parkinson disease: Mendelian versus non-Mendelian inheritance

DJ1 represses glycolysis and cell proliferation by transcriptionally up-regulatingpink1

(2015) Raquel Requejo-Aguilar et al.   BIOCHEMICAL JOURNAL

Loss ofPLA2G6leads to elevated mitochondrial lipid peroxidation and mitochondrial dysfunction

(2015) Kerri J. Kinghorn et al.   BRAIN

Glucocerebrosidase activity in Parkinson’s disease with and withoutGBAmutations

(2015) Roy N. Alcalay et al.   BRAIN

F-box protein 7 mutations promote protein aggregation in mitochondria and inhibit mitophagy

(2015) Zhi Dong Zhou et al.   HUMAN MOLECULAR GENETICS

Diagnosis of Parkinson's disease on the basis of clinical and genetic classification: a population-based modelling study

(2015) Mike A Nalls et al.   LANCET NEUROLOGY

The role of ATP13A2 in Parkinson's disease: Clinical phenotypes and molecular mechanisms

(2015) Jin-Sung Park et al.   MOVEMENT DISORDERS

Parkinson's disease-linked human PARK9/ATP13A2 maintains zinc homeostasis and promotes α-Synuclein externalization via exosomes

(2014) Stephanie M.Y. Kong et al.   HUMAN MOLECULAR GENETICS

PINK1 phosphorylates ubiquitin to activate Parkin E3 ubiquitin ligase activity

(2014) Lesley A. Kane et al.   JOURNAL OF CELL BIOLOGY

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

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

Alternative Splicing Generates Different Parkin Protein Isoforms: Evidences in Human, Rat, and Mouse Brain

(2014) Soraya Scuderi et al.   Biomed Research International

Inhibition of LRRK2 kinase activity stimulates macroautophagy

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

Parkin disease and the Lewy body conundrum

(2013) Karen M. Doherty et al.   MOVEMENT DISORDERS

Interplay of LRRK2 with chaperone-mediated autophagy

(2013) Samantha J Orenstein et al.   NATURE NEUROSCIENCE

The Parkinson's disease–linked proteins Fbxo7 and Parkin interact to mediate mitophagy

(2013) Victoria S Burchell et al.   NATURE NEUROSCIENCE

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

(2013) K. Nuytemans et al.   NEUROLOGY

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

(2013) David A. MacLeod et al.   NEURON

The Vps35 D620N Mutation Linked to Parkinson's Disease Disrupts the Cargo Sorting Function of Retromer

(2013) Jordan Follett et al.   TRAFFIC

A Multicenter Study of Glucocerebrosidase Mutations in Dementia With Lewy Bodies

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

Parkin Disease

(2013) Karen M. Doherty et al.   JAMA Neurology

Glucocerebrosidase deficiency in substantia nigra of parkinson disease brains

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

Frequency of the D620N Mutation in VPS35 in Parkinson Disease

(2012) Kishore R. Kumar et al.   ARCHIVES OF NEUROLOGY

Role of LRRK2 kinase activity in the pathogenesis of Parkinson's disease

(2012) Elisa Greggio   BIOCHEMICAL SOCIETY TRANSACTIONS

The LRRK2 G2019S mutant exacerbates basal autophagy through activation of the MEK/ERK pathway

(2012) José M. Bravo-San Pedro et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Deep sequencing of theLRRK2gene in 14,002 individuals reveals evidence of purifying selection and independent origin of the p.Arg1628Pro mutation in Europe

(2012) Justin P. Rubio et al.   HUMAN MUTATION

Leucine-rich repeat kinase 2 disturbs mitochondrial dynamics via Dynamin-like protein

(2012) Jingwen Niu et al.   JOURNAL OF NEUROCHEMISTRY

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

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

ATP13A2 mutations impair mitochondrial function in fibroblasts from patients with Kufor-Rakeb syndrome

(2012) Anne Grünewald et al.   NEUROBIOLOGY OF AGING

Identification of VPS35 mutations replicated in French families with Parkinson disease

(2012) S. Lesage et al.   NEUROLOGY

Variant of TREM2 Associated with the Risk of Alzheimer's Disease

(2012) Thorlakur Jonsson et al.   NEW ENGLAND JOURNAL OF MEDICINE

TREM2 Variants in Alzheimer's Disease

(2012) Rita Guerreiro et al.   NEW ENGLAND JOURNAL OF MEDICINE

Penetrance of LRRK2 G2385R and R1628P is modified by common PD-associated genetic variants

(2012) Chaodong Wang et al.   PARKINSONISM & RELATED DISORDERS

Quantitative assessment of the effect of LRRK2 exonic variants on the risk of Parkinson’s disease: A meta-analysis

(2012) Xi Wu et al.   PARKINSONISM & RELATED DISORDERS

Genetic variants of SNCA and LRRK2 genes are associated with sporadic PD susceptibility: A replication study in a Taiwanese cohort

(2012) Yah-Huei Wu-Chou et al.   PARKINSONISM & RELATED DISORDERS

LRRK2 G2385R and LRRK2 R1628P increase risk of Parkinson's disease in a Han Chinese population from Southern Mainland China

(2012) Xiaoli Fu et al.   PARKINSONISM & RELATED DISORDERS

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

Genetics of Parkinson's Disease

(2012) Kishore Kumar et al.   SEMINARS IN NEUROLOGY

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

Genome-wide association study confirms extant PD risk loci among the Dutch

(2011) Javier Simón-Sánchez et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

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

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

(2011) Owen A Ross et al.   LANCET NEUROLOGY

LRRK2 haplotype-sharing analysis in Parkinson's disease reveals a novel p.S1761R mutation

(2011) Oswaldo Lorenzo-Betancor et al.   MOVEMENT DISORDERS

ATP13A2 regulates mitochondrial bioenergetics through macroautophagy

(2011) Aaron M. Gusdon et al.   NEUROBIOLOGY OF DISEASE

Genetic characteristics of leucine-rich repeat kinase 2 (LRRK2) associated Parkinson’s disease

(2011) Soraya Bardien et al.   PARKINSONISM & RELATED DISORDERS

In vivo demonstration that  -synuclein oligomers are toxic

(2011) B. Winner et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

Recessively Inherited Parkinsonism

(2010) Norbert Brüggemann et al.   ARCHIVES OF NEUROLOGY

14-3-3 binding to LRRK2 is disrupted by multiple Parkinson's disease-associated mutations and regulates cytoplasmic localization

(2010) R. Jeremy Nichols et al.   BIOCHEMICAL JOURNAL

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

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

Frequencies of LRRK2 variants in Thai patients with Parkinson's disease: evidence for an R1628P founder

(2010) T. Pulkes et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Leucine-Rich Repeat Kinase 2 Is Associated With the Endoplasmic Reticulum in Dopaminergic Neurons and Accumulates in the Core of Lewy Bodies in Parkinson Disease

(2010) Jérémie Vitte et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

α-Synuclein Delays Endoplasmic Reticulum (ER)-to-Golgi Transport in Mammalian Cells by Antagonizing ER/Golgi SNAREs

(2010) Nandhakumar Thayanidhi et al.   MOLECULAR BIOLOGY OF THE CELL

Novel pathogenic LRRK2 p.Asn1437His substitution in familial Parkinson's disease

(2010) Jan O. Aasly et al.   MOVEMENT DISORDERS

Estimation of effect size distribution from genome-wide association studies and implications for future discoveries

(2010) Ju-Hyun Park et al.   NATURE GENETICS

Common SNPs explain a large proportion of the heritability for human height

(2010) Jian Yang et al.   NATURE GENETICS

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

(2010) Taye H Hamza et al.   NATURE GENETICS

Mitochondrial impairment in patients with Parkinson disease with the G2019S mutation in LRRK2

(2010) H. Mortiboys et al.   NEUROLOGY

Phenotypic spectrum of patients with PLA2G6 mutation and PARK14-linked parkinsonism

(2010) H. Yoshino et al.   NEUROLOGY

Increased Expression of α-Synuclein Reduces Neurotransmitter Release by Inhibiting Synaptic Vesicle Reclustering after Endocytosis

(2010) Venu M. Nemani et al.   NEURON

Mutant Parkin Impairs Mitochondrial Function and Morphology in Human Fibroblasts

(2010) Anne Grünewald et al.   PLoS One

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

(2010) J. Burre et al.   SCIENCE

PINK1 Is Selectively Stabilized on Impaired Mitochondria to Activate Parkin

(2010) Derek P. Narendra et al.   PLOS BIOLOGY

LRRK2 G2385R modulates age at onset in Parkinson's disease: A multi-center pooled analysis

(2009) E.K. Tan et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

α-Synuclein Gene Rearrangements in Dominantly Inherited Parkinsonism

(2009) Pablo Ibáñez   ARCHIVES OF NEUROLOGY

The Parkinson’s disease kinase LRRK2 autophosphorylates its GTPase domain at multiple sites

(2009) Elisa Greggio et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

The R1441C mutation alters the folding properties of the ROC domain of LRRK2

(2009) Yongchao Li et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Tauopathies with parkinsonism: clinical spectrum, neuropathologic basis, biological markers, and treatment options

(2009) A. C. Ludolph et al.   EUROPEAN JOURNAL OF NEUROLOGY

Molecular analyses of the LRRK2 gene in European and North African autosomal dominant Parkinson's disease

(2009) S Lesage et al.   JOURNAL OF MEDICAL GENETICS

The Parkinson disease-associated protein kinase LRRK2 exhibits MAPKKK activity and phosphorylates MKK3/6 and MKK4/7,in vitro

(2009) Christian Johannes Gloeckner et al.   JOURNAL OF NEUROCHEMISTRY

Phosphorylation of Ezrin/Radixin/Moesin Proteins by LRRK2 Promotes the Rearrangement of Actin Cytoskeleton in Neuronal Morphogenesis

(2009) L. Parisiadou et al.   JOURNAL OF NEUROSCIENCE

LRRK2mutations and risk variants in Japanese patients with Parkinson's disease

(2009) Cyrus P. Zabetian et al.   MOVEMENT DISORDERS

α-Synuclein is part of a diverse and highly conserved interaction network that includes PARK9 and manganese toxicity

(2009) Aaron D Gitler et al.   NATURE GENETICS

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

MUTATIONS IN GBA ARE ASSOCIATED WITH FAMILIAL PARKINSON DISEASE SUSCEPTIBILITY AND AGE AT ONSET

(2009) E. Sidransky et al.   NEUROLOGY

Clinical features of LRRK2 parkinsonism

(2009) Kristoffer Haugarvoll et al.   PARKINSONISM & RELATED DISORDERS

A Swedish family with de novo α-synuclein A53T mutation: Evidence for early cortical dysfunction

(2009) Andreas Puschmann et al.   PARKINSONISM & RELATED DISORDERS

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

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

The LRRK2 G2385R variant is a risk factor for sporadic Parkinson's disease in the Korean population

(2009) Jong-Min Kim et al.   PARKINSONISM & RELATED DISORDERS

Cathepsin D expression level affects alpha-synuclein processing, aggregation, and toxicity in vivo

(2009) Valerie Cullen et al.   Molecular Brain

Genome-wide Linkage Analysis of a Parkinsonian-Pyramidal Syndrome Pedigree by 500 K SNP Arrays

(2008) Seyedmehdi Shojaee et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Disrupted Membrane Homeostasis and Accumulation of Ubiquitinated Proteins in a Mouse Model of Infantile Neuroaxonal Dystrophy Caused by PLA2G6 Mutations

(2008) Ibrahim Malik et al.   AMERICAN JOURNAL OF PATHOLOGY

Analysis of Lrrk2 R1628P as a risk factor for Parkinson's disease

(2008) Owen A. Ross et al.   ANNALS OF NEUROLOGY

Genomic investigation of α-synuclein multiplication and parkinsonism

(2008) Owen A. Ross et al.   ANNALS OF NEUROLOGY

Characterization of PLA2G6 as a locus for dystonia-parkinsonism

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

Patients Homozygous and Heterozygous for SNCA Duplication in a Family With Parkinsonism and Dementia

(2008) Takeshi Ikeuchi et al.   ARCHIVES OF NEUROLOGY

R632W mutation inPLA2G6segregates with dystonia-parkinsonism in a consanguineous Iranian family

(2008) F. Sina et al.   EUROPEAN JOURNAL OF NEUROLOGY

Genomewide association study for susceptibility genes contributing to familial Parkinson disease

(2008) Nathan Pankratz et al.   HUMAN GENETICS

Comprehensive analysis ofLRRK2in publicly available Parkinson's disease cases and neurologically normal controls

(2008) Coro Paisán-Ruíz et al.   HUMAN MUTATION

Parkin is recruited selectively to impaired mitochondria and promotes their autophagy

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

LRRK2 Gly2385Arg mutation and clinical features in a Chinese population with early-onset Parkinson’s disease compared to late-onset patients

(2008) Daniel Kam Yin Chan et al.   JOURNAL OF NEURAL TRANSMISSION

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

(2008) Daniel G Healy et al.   LANCET NEUROLOGY

Analysis of PARK genes in a Korean cohort of early-onset Parkinson disease

(2008) Jung Mi Choi et al.   NEUROGENETICS

PROMINENT PSYCHIATRIC SYMPTOMS AND GLUCOSE HYPOMETABOLISM IN A FAMILY WITH A SNCA DUPLICATION

(2008) T. Uchiyama et al.   NEUROLOGY

 -Synuclein gene duplication is present in sporadic Parkinson disease

(2008) A. R. Troiano et al.   NEUROLOGY

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

(2008) A. D. Fonzo et al.   NEUROLOGY

LRRK2 is a component of granular alpha-synuclein pathology in the brainstem of Parkinson's disease

(2007) J. Alegre-Abarrategui et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY