The genetic architecture of mitochondrial dysfunction in Parkinson’s disease

Classification of advanced stages of Parkinson’s disease: translation into stratified treatments

(2017) Rejko Krüger et al.   JOURNAL OF NEURAL TRANSMISSION

Derivation of human induced pluripotent stem cell (iPSC) line with LRRK2 gene R1398H variant in Parkinson's disease

(2017) Dongrui Ma et al.   Stem Cell Research

VPS35 regulates parkin substrate AIMP2 toxicity by facilitating lysosomal clearance of AIMP2

(2017) Seung Pil Yun et al.   Cell Death & Disease

PINK1, Parkin, and Mitochondrial Quality Control: What can we Learn about Parkinson’s Disease Pathobiology?

(2017) Dominika Truban et al.   Journal of Parkinsons Disease

A Human Neural Crest Stem Cell-Derived Dopaminergic Neuronal Model Recapitulates Biochemical Abnormalities in GBA1 Mutation Carriers

(2017) Shi-Yu Yang et al.   Stem Cell Reports

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

α-synuclein genetic variability: A biomarker for dementia in Parkinson disease

(2016) Ilaria Guella et al.   ANNALS OF NEUROLOGY

Endoplasmic reticulum and lysosomal Ca2+ stores are remodelled in GBA1-linked Parkinson disease patient fibroblasts

(2016) Bethan S. Kilpatrick et al.   CELL CALCIUM

Functional Impairment in Miro Degradation and Mitophagy Is a Shared Feature in Familial and Sporadic Parkinson’s Disease

(2016) Chung-Han Hsieh et al.   Cell Stem Cell

Mechanisms of mitophagy: PINK1, Parkin, USP30 and beyond

(2016) Baris Bingol et al.   FREE RADICAL BIOLOGY AND MEDICINE

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

(2016) Joana Magalhaes et al.   HUMAN MOLECULAR GENETICS

Mitochondrial defects and neurodegeneration in mice overexpressing wild-type or G399S mutant HtrA2

(2016) Nicolas Casadei et al.   HUMAN MOLECULAR GENETICS

Metabolic regulation of mitochondrial dynamics

(2016) Prashant Mishra et al.   JOURNAL OF CELL BIOLOGY

Genetics in Parkinson disease: Mendelian versus non-Mendelian inheritance

(2016) Dena G. Hernandez et al.   JOURNAL OF NEUROCHEMISTRY

Genetics of Parkinson's disease

(2016) Christina M. Lill   MOLECULAR AND CELLULAR PROBES

Alpha-synuclein gene variants may predict neurostimulation outcome

(2016) Daniel Weiss et al.   MOVEMENT DISORDERS

Parkinson-Related LRRK2 Mutation R1628P Enables Cdk5 Phosphorylation of LRRK2 and Upregulates Its Kinase Activity

(2016) Yang Shu et al.   PLoS One

G2385R and I2020T Mutations Increase LRRK2 GTPase Activity

(2016) Dong Hwan Ho et al.   Biomed Research International

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

Identification of VPS13C as a Galectin-12-Binding Protein That Regulates Galectin-12 Protein Stability and Adipogenesis

(2016) Ri-Yao Yang et al.   PLoS One

TheEIF4G1gene and Parkinson's disease

(2015) H. Deng et al.   ACTA NEUROLOGICA SCANDINAVICA

UPRmt-mediated cytoprotection and organismal aging

(2015) Anna M. Schulz et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

(Patho-)physiological relevance of PINK1-dependent ubiquitin phosphorylation

(2015) F. C. Fiesel et al.   EMBO REPORTS

Functional Significance of Point Mutations in Stress Chaperone Mortalin and Their Relevance to Parkinson Disease

(2015) Renu Wadhwa et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Mitochondrial impairment and oxidative stress compromise autophagosomal degradation of α-synuclein in oligodendroglial cells

(2015) Katharina Pukaß et al.   JOURNAL OF NEUROCHEMISTRY

CHCHD2 mutations in autosomal dominant late-onset Parkinson's disease: a genome-wide linkage and sequencing study

(2015) Manabu Funayama et al.   LANCET NEUROLOGY

MNRR1 (formerly CHCHD2) is a bi-organellar regulator of mitochondrial metabolism

(2015) Siddhesh Aras et al.   MITOCHONDRION

Glucocerebrosidase and Parkinson disease: Recent advances

(2015) Anthony H.V. Schapira   MOLECULAR AND CELLULAR NEUROSCIENCE

Parkinson's disease–associated mutant VPS35 causes mitochondrial dysfunction by recycling DLP1 complexes

(2015) Wenzhang Wang et al.   NATURE MEDICINE

UDCA exerts beneficial effect on mitochondrial dysfunction inLRRK2G2019Scarriers and in vivo

(2015) Heather Mortiboys et al.   NEUROLOGY

Pharmacological Chaperones and Coenzyme Q10 Treatment Improves Mutant β-Glucocerebrosidase Activity and Mitochondrial Function in Neuronopathic Forms of Gaucher Disease

(2015) Mario de la Mata et al.   Scientific Reports

VPS35 Deficiency or Mutation Causes Dopaminergic Neuronal Loss by Impairing Mitochondrial Fusion and Function

(2015) Fu-Lei Tang et al.   Cell Reports

CHCHD2 inhibits apoptosis by interacting with Bcl-x L to regulate Bax activation

(2014) Y Liu et al.   CELL DEATH AND DIFFERENTIATION

A new pathway for mitochondrial quality control: mitochondrial-derived vesicles

(2014) A. Sugiura et al.   EMBO JOURNAL

Parkin and PINK1 function in a vesicular trafficking pathway regulating mitochondrial quality control

(2014) Gian-Luca McLelland et al.   EMBO JOURNAL

Abberant protein synthesis in G2019S LRRK2DrosophilaParkinson disease-related phenotypes

(2014) Ian Martin et al.   FLY

EIF4G1is neither a strong nor a common risk factor for Parkinson's disease: evidence from large European cohorts: Table1

(2014) Johanna Huttenlocher et al.   JOURNAL OF MEDICAL GENETICS

Confirmation of the association between LRRK2 R1628P variant and susceptibility to Parkinson's disease in the Thai population

(2014) Teeratorn Pulkes et al.   PARKINSONISM & RELATED DISORDERS

Higher Vulnerability and Stress Sensitivity of Neuronal Precursor Cells Carrying an Alpha-Synuclein Gene Triplication

(2014) Adrian Flierl et al.   PLoS One

Mitochondrial serine protease HTRA2 p.G399S in a kindred with essential tremor and Parkinson disease

(2014) Hilal Unal Gulsuner et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mitochondrial proteolytic stress induced by loss of mortalin function is rescued by Parkin and PINK1

(2014) L F Burbulla et al.   Cell Death & Disease

iPSC-derived neurons from GBA1-associated Parkinson’s disease patients show autophagic defects and impaired calcium homeostasis

(2014) David C. Schöndorf et al.   Nature Communications

LRRK2 G2385R and R1628P Mutations Are Associated with an Increased Risk of Parkinson’s Disease in the Malaysian Population

(2014) Aroma Agape Gopalai et al.   Biomed Research International

The accumulation of misfolded proteins in the mitochondrial matrix is sensed by PINK1 to induce PARK2/Parkin-mediated mitophagy of polarized mitochondria

(2013) Seok Min Jin et al.   Autophagy

The NAD+/Sirtuin Pathway Modulates Longevity through Activation of Mitochondrial UPR and FOXO Signaling

(2013) Laurent Mouchiroud et al.   CELL

Mitochondria and Quality Control Defects in a Mouse Model of Gaucher Disease—Links to Parkinson’s Disease

(2013) Laura D. Osellame et al.   Cell Metabolism

The hallmarks of Parkinson's disease

(2013) Paul M. A. Antony et al.   FEBS Journal

TRAP1 rescues PINK1 loss-of-function phenotypes

(2013) Li Zhang et al.   HUMAN MOLECULAR GENETICS

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

Parthanatos mediates AIMP2-activated age-dependent dopaminergic neuronal loss

(2013) Yunjong Lee et al.   NATURE NEUROSCIENCE

Monogenic Parkinson's disease and parkinsonism: Clinical phenotypes and frequencies of known mutations

(2013) Andreas Puschmann   PARKINSONISM & RELATED DISORDERS

Impairment of Mitochondria in Adult Mouse Brain Overexpressing Predominantly Full-Length, N-Terminally Acetylated Human α-Synuclein

(2013) Theodore A. Sarafian et al.   PLoS One

Knockdown of Hsc70-5/mortalin Induces Loss of Synaptic Mitochondria in a Drosophila Parkinson’s Disease Model

(2013) Jun-yi Zhu et al.   PLoS One

Genetic Variants of LRRK2 in Taiwanese Parkinson’s Disease

(2013) Yih-Ru Wu et al.   PLoS One

Autophagy and apoptosis dysfunction in neurodegenerative disorders

(2013) Saeid Ghavami et al.   PROGRESS IN NEUROBIOLOGY

PINK1-Phosphorylated Mitofusin 2 Is a Parkin Receptor for Culling Damaged Mitochondria

(2013) Y. Chen et al.   SCIENCE

The G2385R variant of leucine-rich repeat kinase 2 associated with Parkinson's disease is a partial loss-of-function mutation

(2012) Iakov N. Rudenko et al.   BIOCHEMICAL JOURNAL

A Vesicular Transport Pathway Shuttles Cargo from Mitochondria to Lysosomes

(2012) Vincent Soubannier et al.   CURRENT BIOLOGY

Phosphatase and Tensin Homolog (PTEN)-induced Putative Kinase 1 (PINK1)-dependent Ubiquitination of Endogenous Parkin Attenuates Mitophagy

(2012) Aleksandar Rakovic et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

α-Synuclein Controls Mitochondrial Calcium Homeostasis by Enhancing Endoplasmic Reticulum-Mitochondria Interactions

(2012) Tito Calì et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Glucocerebrosidase Mutations alter the endoplasmic reticulum and lysosomes in Lewy body disease

(2012) Marzena Kurzawa-Akanbi et al.   JOURNAL OF NEUROCHEMISTRY

Mitochondria as sensors and regulators of calcium signalling

(2012) Rosario Rizzuto et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

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

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

Reconstitution of Mitochondria Derived Vesicle Formation Demonstrates Selective Enrichment of Oxidized Cargo

(2012) Vincent Soubannier et al.   PLoS One

Induced pluripotent stem cell model recapitulates pathologic hallmarks of Gaucher disease

(2012) L. M. Panicker et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mitochondrial Fission, Fusion, and Stress

(2012) R. J. Youle et al.   SCIENCE

The Mitochondrial Chaperone Protein TRAP1 Mitigates α-Synuclein Toxicity

(2012) Erin K. Butler et al.   PLoS Genetics

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

(2012) Song Liu 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

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

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

Direct Membrane Association Drives Mitochondrial Fission by the Parkinson Disease-associated Protein α-Synuclein

(2011) Ken Nakamura et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Converging environmental and genetic pathways in the pathogenesis of Parkinson's disease

(2011) Lena F. Burbulla et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Replication of MAPT and SNCA, but not PARK16-18, as susceptibility genes for Parkinson's disease

(2011) Ignacio F. Mata et al.   MOVEMENT DISORDERS

Inhibition of mitochondrial permeability transition pore opening is involved in the protective effects of mortalin overexpression against beta-amyloid-induced apoptosis in SH-SY5Y cells

(2011) Mingyue Qu et al.   NEUROSCIENCE RESEARCH

Role of Mendelian genes in “sporadic” Parkinson's disease

(2011) Suzanne Lesage et al.   PARKINSONISM & RELATED DISORDERS

Quality Control of Mitochondrial Proteostasis

(2011) M. J. Baker et al.   Cold Spring Harbor Perspectives in Biology

The Interplay Between Mitochondrial Dynamics and Mitophagy

(2010) Gilad Twig et al.   ANTIOXIDANTS & REDOX SIGNALING

Ubiquitin–Proteasome System and mitochondria — Reciprocity

(2010) Nurit Livnat-Levanon et al.   Biochimica et Biophysica Acta-Gene Regulatory Mechanisms

Heat Shock Protein 60 Regulation of the Mitochondrial Permeability Transition Pore in Tumor Cells

(2010) J. C. Ghosh et al.   CANCER RESEARCH

Vps35 Mediates Vesicle Transport between the Mitochondria and Peroxisomes

(2010) Emélie Braschi et al.   CURRENT BIOLOGY

Inhibition of mitochondrial fusion by α-synuclein is rescued by PINK1, Parkin and DJ-1

(2010) Frits Kamp et al.   EMBO JOURNAL

Balance is the challenge - The impact of mitochondrial dynamics in Parkinson’s disease

(2010) Lena F. Burbulla et al.   EUROPEAN JOURNAL OF CLINICAL INVESTIGATION

LRRK2 G2019S in the North African Population: A Review

(2010) Hani T.S. Benamer et al.   EUROPEAN NEUROLOGY

Proposal for a role of the Hsp90/Hsp70-based chaperone machinery in making triage decisions when proteins undergo oxidative and toxic damage

(2010) William B Pratt et al.   EXPERIMENTAL BIOLOGY AND MEDICINE

p62/SQSTM1 cooperates with Parkin for perinuclear clustering of depolarized mitochondria

(2010) Kei Okatsu et al.   GENES TO CELLS

Large-scale screening of the Gaucher's disease-related glucocerebrosidase gene in Europeans with Parkinson's disease

(2010) Suzanne Lesage et al.   HUMAN MOLECULAR GENETICS

Proteasome and p97 mediate mitophagy and degradation of mitofusins induced by Parkin

(2010) Atsushi Tanaka et al.   JOURNAL OF CELL BIOLOGY

Reduced Basal Autophagy and Impaired Mitochondrial Dynamics Due to Loss of Parkinson's Disease-Associated Protein DJ-1

(2010) Guido Krebiehl et al.   PLoS One

PINK1 Is Selectively Stabilized on Impaired Mitochondria to Activate Parkin

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

Pink1 Forms a Multiprotein Complex with Miro and Milton, Linking Pink1 Function to Mitochondrial Trafficking†

(2009) Andreas Weihofen et al.   BIOCHEMISTRY

The Mechanism of Ca2+-Dependent Regulation of Kinesin-Mediated Mitochondrial Motility

(2009) Xinnan Wang et al.   CELL

MAPL is a new mitochondrial SUMO E3 ligase that regulates mitochondrial fission

(2009) Emélie Braschi et al.   EMBO REPORTS

Mitochondrial transport and docking in axons

(2009) Qian Cai et al.   EXPERIMENTAL NEUROLOGY

Expansion of the Parkinson disease-associated SNCA- Rep1 allele upregulates human α-synuclein in transgenic mouse brain

(2009) Kenneth D. Cronin et al.   HUMAN MOLECULAR GENETICS

Parkinson's disease: from monogenic forms to genetic susceptibility factors

(2009) S. Lesage et al.   HUMAN MOLECULAR GENETICS

Mutational screening of the mortalin gene (HSPA9) in Parkinson’s disease

(2009) Lorena De Mena et al.   JOURNAL OF NEURAL TRANSMISSION

Parkin Protects against LRRK2 G2019S Mutant-Induced Dopaminergic Neurodegeneration in Drosophila

(2009) C.-H. Ng et al.   JOURNAL OF NEUROSCIENCE

Finding the missing heritability of complex diseases

(2009) Teri A. Manolio et al.   NATURE

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

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

Miro1 Is a Calcium Sensor for Glutamate Receptor-Dependent Localization of Mitochondria at Synapses

(2009) Andrew F. MacAskill et al.   NEURON

Multicenter Analysis of Glucocerebrosidase Mutations in Parkinson's Disease

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

Genetic Regulation of α-Synuclein mRNA Expression in Various Human Brain Tissues

(2009) Colton Linnertz et al.   PLoS One

Genetic association between α-synuclein and idiopathic parkinson's disease

(2008) Denise M. Kay et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

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

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

Mitochondrial dysfunction triggered by loss of HtrA2 results in the activation of a brain-specific transcriptional stress response

(2008) N Moisoi et al.   CELL DEATH AND DIFFERENTIATION

Cargo-Selected Transport from the Mitochondria to Peroxisomes Is Mediated by Vesicular Carriers

(2008) Margaret Neuspiel et al.   CURRENT BIOLOGY

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

Familial Parkinsonism with digenicparkinandPINK1mutations

(2008) Manabu Funayama et al.   MOVEMENT DISORDERS

The LRRK2 Arg1628Pro variant is a risk factor for Parkinson’s disease in the Chinese population

(2008) Chin-Song Lu et al.   NEUROGENETICS

Review: Familial Parkinson's disease – genetics, clinical phenotype and neuropathology in relation to the common sporadic form of the disease

(2008) Carola Schiesling et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

Oxidative insults induce DJ-1 upregulation and redistribution: Implications for neuroprotection

(2008) Nirit Lev et al.   NEUROTOXICOLOGY

Complex I deficiency in Parkinson's disease frontal cortex

(2007) W. Davis Parker et al.   BRAIN RESEARCH

Genetic variability in the SNCA gene influences α-synuclein levels in the blood and brain

(2007) Julia Fuchs et al.   FASEB JOURNAL