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

scientific article published on 26 April 2018

Warning: Trying to access array offset on value of type null in /home/httpd/vhosts/renenyffenegger.ch/opendata.renenyffenegger.ch/Wikimedia/Wikidata/entity/main.php on line 159 Warning: Trying to access array offset on value of type null in /home/httpd/vhosts/renenyffenegger.ch/opendata.renenyffenegger.ch/Wikimedia/Wikidata/entity/main.php on line 159 Warning: foreach() argument must be of type array|object, null given in /home/httpd/vhosts/renenyffenegger.ch/opendata.renenyffenegger.ch/Wikimedia/Wikidata/entity/main.php on line 161
Parkinson Disease from Mendelian Forms to Genetic Susceptibility: New Molecular Insights into the Neurodegeneration Process. is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1007/S10571-018-0587-4
P932PMC publication ID6061130
P698PubMed publication ID29700661

P50authorM.Reza JabalameliQ64877942
P2093author name stringBenjamin Bell
Saeid Charsouei
Amin Karimi-Moghadam
P2860cites workPINK1 is selectively stabilized on impaired mitochondria to activate ParkinQ21145802
Mutational analysis of the PINK1 gene in early-onset parkinsonism in Europe and North AfricaQ82213842
Transplantation of human embryonic stem cell-derived cells to a rat model of Parkinson's disease: effect of in vitro differentiation on graft survival and teratoma formationQ82927480
R632W mutation in PLA2G6 segregates with dystonia-parkinsonism in a consanguineous Iranian familyQ82990460
Toward a redefinition of Parkinson's diseaseQ83264509
Etiology and pathogenesis of Parkinson's diseaseQ84231134
Serum Vitamins and Heavy Metals in Blood and Urine, and the Correlations among Them in Parkinson’s Disease Patients in ChinaQ84372097
Summary of GIGYF2 studies in Parkinson's disease: the burden of proofQ84885754
Young-onset parkinsonism due to homozygous duplication of α-synuclein in a consanguineous familyQ95814006
A deleterious mutation in DNAJC6 encoding the neuronal-specific clathrin-uncoating co-chaperone auxilin, is associated with juvenile parkinsonismQ21560999
Abundant quantitative trait loci exist for DNA methylation and gene expression in human brainQ21563315
Parkinson's disease-associated kinase PINK1 regulates Miro protein level and axonal transport of mitochondriaQ21563375
Parkinson's disease: clinical features and diagnosisQ22242021
Parkinson's disease: from monogenic forms to genetic susceptibility factorsQ22242870
A review of Parkinson's diseaseQ22242927
Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation updateQ22252904
Familial Parkinson disease gene product, parkin, is a ubiquitin-protein ligaseQ22254584
A serine protease, HtrA2, is released from the mitochondria and interacts with XIAP, inducing cell deathQ24291746
Parkin is activated by PINK1-dependent phosphorylation of ubiquitin at Ser65Q24292901
LC3, GABARAP and GATE16 localize to autophagosomal membrane depending on form-II formationQ24294635
Ubiquitin is phosphorylated by PINK1 to activate parkinQ24296532
Ataxin-2 and its Drosophila homolog, ATX2, physically assemble with polyribosomesQ24296835
topors, a p53 and topoisomerase I-binding RING finger protein, is a coactivator of p53 in growth suppression induced by DNA damageQ24296904
PINK1 and Parkin target Miro for phosphorylation and degradation to arrest mitochondrial motilityQ24296955
Inhibition of excessive mitochondrial fission reduced aberrant autophagy and neuronal damage caused by LRRK2 G2019S mutationQ24297033
PINK1/Parkin-mediated mitophagy is dependent on VDAC1 and p62/SQSTM1Q24297155
The mitochondrial intramembrane protease PARL cleaves human Pink1 to regulate Pink1 traffickingQ24297960
The Parkinson's disease-associated DJ-1 protein is a transcriptional co-activator that protects against neuronal apoptosisQ24298775
Mitofusin 1 and mitofusin 2 are ubiquitinated in a PINK1/parkin-dependent manner upon induction of mitophagyQ24300975
LRRK2 regulates mitochondrial dynamics and function through direct interaction with DLP1Q24301357
The expression of DJ-1 (PARK7) in normal human CNS and idiopathic Parkinson's diseaseQ24301425
Mitochondrial outer-membrane protein FUNDC1 mediates hypoxia-induced mitophagy in mammalian cellsQ24302858
Mitochondrial localization of the Parkinson's disease related protein DJ-1: implications for pathogenesisQ24304952
DJ-1, a cancer- and Parkinson's disease-associated protein, stabilizes the antioxidant transcriptional master regulator Nrf2Q24305442
Loss of PINK1 causes mitochondrial functional defects and increased sensitivity to oxidative stressQ28592727
GIGYF2 gene disruption in mice results in neurodegeneration and altered insulin-like growth factor signalingQ28593816
Mitofusins Mfn1 and Mfn2 coordinately regulate mitochondrial fusion and are essential for embryonic developmentQ28594513
DNAJC13 mutations in Parkinson diseaseQ28658355
Parametric and nonparametric linkage analysis: a unified multipoint approachQ28762162
Probes of ubiquitin E3 ligases enable systematic dissection of parkin activationQ28830194
Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent MitophagyQ29147504
Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: The PDGene databaseQ29417106
Cell survival responses to environmental stresses via the Keap1-Nrf2-ARE pathwayQ29547371
Genetic dissection of complex traits: guidelines for interpreting and reporting linkage resultsQ29547377
Impaired degradation of mutant alpha-synuclein by chaperone-mediated autophagyQ29614178
Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's diseaseQ29614900
Epidemiology of Parkinson's diseaseQ29614901
Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control studyQ29614953
Landscape of the PARKIN-dependent ubiquitylome in response to mitochondrial depolarizationQ29615622
Mitochondrial membrane potential regulates PINK1 import and proteolytic destabilization by PARLQ29615624
The PINK1/Parkin pathway regulates mitochondrial morphologyQ29615641
Mitochondrial dysfunction in Drosophila PINK1 mutants is complemented by parkinQ29615684
Association between early-onset Parkinson's disease and mutations in the parkin geneQ29615733
PINK1 stabilized by mitochondrial depolarization recruits Parkin to damaged mitochondria and activates latent Parkin for mitophagyQ29616005
PINK1 phosphorylates ubiquitin to activate Parkin E3 ubiquitin ligase activityQ29617292
Eaten alive: a history of macroautophagyQ29617841
PINK1-dependent recruitment of Parkin to mitochondria in mitophagyQ29620567
PINK1 is activated by mitochondrial membrane potential depolarization and stimulates Parkin E3 ligase activity by phosphorylating Serine 65Q29622844
An LRRK2 mutation as a cause for the parkinsonism in the original PARK8 family.Q30350674
Lack of replication of association between GIGYF2 variants and Parkinson disease.Q30437358
PARK3 influences age at onset in Parkinson disease: a genome scan in the GenePD studyQ30448742
Cross sectional prevalence survey of idiopathic Parkinson's disease and Parkinsonism in LondonQ30490116
Mutation in VPS35 associated with Parkinson's disease impairs WASH complex association and inhibits autophagyQ30578370
Intragenic deletion in the gene encoding ubiquitin carboxy-terminal hydrolase in gad miceQ30764264
Oxidative damage of DJ-1 is linked to sporadic Parkinson and Alzheimer diseasesQ33235503
Meta-analysis in genome-wide association datasets: strategies and application in Parkinson diseaseQ33276409
The mitochondrial fusion-promoting factor mitofusin is a substrate of the PINK1/parkin pathwayQ33552320
LRRK2 mutations and risk variants in Japanese patients with Parkinson's diseaseQ33682480
ATP13A2 (PARK9) protein levels are reduced in brain tissue of cases with Lewy bodiesQ33715666
Motor phenotype of LRRK2 G2019S carriers in early-onset Parkinson diseaseQ33723751
Viral vectors for neurotrophic factor delivery: a gene therapy approach for neurodegenerative diseases of the CNSQ33894621
Parkinson's disease-linked mutations in VPS35 induce dopaminergic neurodegenerationQ33991769
Manganese and Parkinson's disease: a critical review and new findingsQ34060040
SCA2 may present as levodopa-responsive parkinsonismQ34187852
Two novel proteins that are linked to insulin-like growth factor (IGF-I) receptors by the Grb10 adapter and modulate IGF-I signalingQ28505191
Neuroprotective role of the Reaper-related serine protease HtrA2/Omi revealed by targeted deletion in miceQ28507648
alpha-Synuclein produces a long-lasting increase in neurotransmitter releaseQ28510893
Vps26A and Vps26B subunits define distinct retromer complexesQ28586140
Ubiquitin carboxy-terminal hydrolase L1 binds to and stabilizes monoubiquitin in neuronQ28589324
PINK1-phosphorylated mitofusin 2 is a Parkin receptor for culling damaged mitochondriaQ28592217
Gaucher disease glucocerebrosidase and α-synuclein form a bidirectional pathogenic loop in synucleinopathiesQ24307627
Oxygen-dependent expression of cytochrome c oxidase subunit 4-2 gene expression is mediated by transcription factors RBPJ, CXXC5 and CHCHD2Q24307974
Oxidative status of DJ-1-dependent activation of dopamine synthesis through interaction of tyrosine hydroxylase and 4-dihydroxy-L-phenylalanine (L-DOPA) decarboxylase with DJ-1Q24309004
Functional interaction of Parkinson's disease-associated LRRK2 with members of the dynamin GTPase superfamilyQ24310218
DJ-1 induces thioredoxin 1 expression through the Nrf2 pathwayQ24312506
The Parkinson's disease-linked proteins Fbxo7 and Parkin interact to mediate mitophagyQ24316726
Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonismQ24321359
Mitochondrial localization of DJ-1 leads to enhanced neuroprotectionQ24324226
Hereditary early-onset Parkinson's disease caused by mutations in PINK1Q24337084
Nuclear translocation of DJ-1 during oxidative stress-induced neuronal cell deathQ24337858
DJ-1 transcriptionally up-regulates the human tyrosine hydroxylase by inhibiting the sumoylation of pyrimidine tract-binding protein-associated splicing factorQ24338249
p53: 25 years after its discoveryQ24338379
Broad activation of the ubiquitin–proteasome system by Parkin is critical for mitophagyQ24339224
Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studiesQ24606055
Genome-wide association study reveals genetic risk underlying Parkinson's diseaseQ24646654
Mutations in the GIGYF2 (TNRC15) gene at the PARK11 locus in familial Parkinson diseaseQ24656075
Omi/HtrA2 catalytic cleavage of inhibitor of apoptosis (IAP) irreversibly inactivates IAPs and facilitates caspase activity in apoptosisQ24672350
The Grb10/Nedd4 complex regulates ligand-induced ubiquitination and stability of the insulin-like growth factor I receptorQ24682781
Sensitivity to oxidative stress in DJ-1-deficient dopamine neurons: an ES- derived cell model of primary ParkinsonismQ24797276
Linking F-box protein 7 and parkin to neuronal degeneration in Parkinson's disease (PD)Q26752685
Reactive oxygen species: from health to diseaseQ26864075
Molecular mechanisms of presynaptic membrane retrieval and synaptic vesicle reformationQ27003165
Morphological control of mitochondrial bioenergeticsQ27006036
Chaperone-mediated autophagy: roles in neurodegenerationQ27016100
Genetic linkage analysis in the age of whole-genome sequencingQ27027718
Mechanisms of mitophagyQ27310261
Progressive Axonal Degeneration of Nigrostriatal Dopaminergic Neurons in Calcium-Independent Phospholipase A2β Knockout MiceQ27313281
dAtaxin-2 mediates expanded Ataxin-1-induced neurodegeneration in a Drosophila model of SCA1Q27314605
PINK1-Parkin pathway activity is regulated by degradation of PINK1 in the mitochondrial matrixQ27316288
The Sac1 domain of SYNJ1 identified mutated in a family with early-onset progressive Parkinsonism with generalized seizuresQ37215037
Beyond ubiquitination: the atypical functions of Fbxo7 and other F-box proteins.Q37272000
Neurobiology and treatment of Parkinson's diseaseQ37337617
Genome screen to identify susceptibility genes for Parkinson disease in a sample without parkin mutationsQ37361830
Mutations in Fis1 disrupt orderly disposal of defective mitochondriaQ37416492
The genetics of Parkinson's syndromes: a critical reviewQ37472412
Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria.Q37547480
Mitochondrial Rab GAPs govern autophagosome biogenesis during mitophagyQ37594853
Neuropathological assessment of Parkinson's disease: refining the diagnostic criteriaQ37631959
PINK1 function in health and diseaseQ37668218
Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutationsQ37776461
α-Synuclein in Parkinson's diseaseQ37987146
Programmed cell death in Parkinson's diseaseQ38036233
Lysosome-dependent pathways as a unifying theme in Parkinson's disease.Q38038561
Mitochondrial dynamics in neurodegenerationQ38060435
α-Synuclein and mitochondrial dysfunction in Parkinson's diseaseQ38077665
Neuromelanin of the human substantia nigra: an updateQ38155132
Protective and toxic roles of dopamine in Parkinson's diseaseQ38189127
Genetics and genomics of Parkinson's diseaseQ38233866
Progress in unraveling the genetic etiology of Parkinson disease in a genomic era.Q38363823
Mitochondrial dysfunction and mitophagy in Parkinson's: from familial to sporadic diseaseQ38372209
The Parkinson Disease Mitochondrial Hypothesis: Where Are We at?Q38374332
Nonmotor symptoms as presenting complaints in Parkinson's disease: a clinicopathological studyQ38429187
BCL2L13 is a mammalian homolog of the yeast mitophagy receptor Atg32Q38617489
Autophagy and Alpha-Synuclein: Relevance to Parkinson's Disease and Related SynucleopathiesQ38712646
The mitochondrial protein BNIP3L is the substrate of PARK2 and mediates mitophagy in PINK1/PARK2 pathwayQ38917518
The Vps35 D620N mutation linked to Parkinson's disease disrupts the cargo sorting function of retromerQ39072935
Stimulation of vesicular monoamine transporter 2 activity by DJ-1 in SH-SY5Y cellsQ39354267
RNA-binding disturbances as a continuum from spinocerebellar ataxia type 2 to Parkinson diseaseQ39356825
Dopaminergic neurons derived from human induced pluripotent stem cells survive and integrate into 6-OHDA-lesioned ratsQ39788084
Essential role for eIF4GI overexpression in the pathogenesis of inflammatory breast cancer.Q39838070
Sumoylation is critical for DJ-1 to repress p53 transcriptional activity.Q40002714
DJ-1 decreases Bax expression through repressing p53 transcriptional activityQ40043929
Inhibition of tyrosine hydroxylase expression in alpha-synuclein-transfected dopaminergic neuronal cellsQ40526144
Loss of FBXO7 (PARK15) results in reduced proteasome activity and models a parkinsonism-like phenotype in miceQ41730755
A dimeric PINK1-containing complex on depolarized mitochondria stimulates Parkin recruitment.Q41846746
Loss of PINK1 enhances neurodegeneration in a mouse model of Parkinson's disease triggered by mitochondrial stress.Q41846921
Accumulation and distribution of α-synuclein and ubiquitin in the CNS of Gaucher disease mouse modelsQ41871999
Deficiency of HTRA2/Omi is associated with infantile neurodegeneration and 3-methylglutaconic aciduria.Q41924560
ParkDB: a Parkinson's disease gene expression databaseQ42183671
Dopaminergic neuronal dysfunction associated with parkinsonism in both a Gaucher disease patient and a carrierQ42505823
Progressive loss of striatal neurons causes motor dysfunction in MND2 mutant mice and is not prevented by Bcl-2.Q42521333
The adapter protein GRB10 is an endogenous negative regulator of insulin-like growth factor signalingQ42812036
Negative regulation of insulin-stimulated mitogen-activated protein kinase signaling by Grb10.Q42834104
Identification of a novel Zn2+-binding domain in the autosomal recessive juvenile Parkinson-related E3 ligase parkin.Q43123357
Spinocerebellar ataxia type 2 with parkinsonism in ethnic ChineseQ43864807
Case-control study of environmental risk factors for Parkinson's disease in BelgiumQ44174971
Parkin protects against the toxicity associated with mutant alpha-synuclein: proteasome dysfunction selectively affects catecholaminergic neuronsQ44258606
Alterations of structure and hydrolase activity of parkinsonism-associated human ubiquitin carboxyl-terminal hydrolase L1 variantsQ44410269
Slower progression of Parkinson's disease with ropinirole versus levodopa: The REAL-PET studyQ44499883
The PLA2G6 gene in early‐onset Parkinson's diseaseQ44642015
Cysteine-106 of DJ-1 is the most sensitive cysteine residue to hydrogen peroxide-mediated oxidation in vivo in human umbilical vein endothelial cellsQ44842227
Meg1/Grb10 overexpression causes postnatal growth retardation and insulin resistance via negative modulation of the IGF1R and IR cascades.Q45308583
DNAJC6 is responsible for juvenile parkinsonism with phenotypic variability.Q45493890
rAAV-mediated nigral human parkin over-expression partially ameliorates motor deficits via enhanced dopamine neurotransmission in a rat model of Parkinson's diseaseQ45870012
SNCA locus duplication carriers: from genetics to Parkinson disease phenotypes.Q45941471
Genetic variability in the mitochondrial serine protease HTRA2 contributes to risk for Parkinson diseaseQ46233748
Parkinson Sac Domain Mutation in Synaptojanin 1 Impairs Clathrin Uncoating at Synapses and Triggers Dystrophic Changes in Dopaminergic AxonsQ46358347
Alpha-synuclein gene rearrangements in dominantly inherited parkinsonism: frequency, phenotype, and mechanismsQ46583182
DJ-1 mutations and parkinsonism-dementia-amyotrophic lateral sclerosis complex.Q46766700
MNRR1 (formerly CHCHD2) is a bi-organellar regulator of mitochondrial metabolismQ46825348
VPS35 dysfunction impairs lysosomal degradation of α-synuclein and exacerbates neurotoxicity in a Drosophila model of Parkinson's disease.Q46854670
Parkinson's disease-linked DNAJC13 mutation aggravates alpha-synuclein-induced neurotoxicity through perturbation of endosomal traffickingQ47224887
The parkinsonian phenotype of spinocerebellar ataxia type 2.Q47254835
GIGYF2 mutations are not a frequent cause of familial Parkinson's diseaseQ47688721
GIGYF2 Asn56Ser and Asn457Thr mutations in Parkinson disease patientsQ47839456
Analysis of DNAJC13 mutations in French-Canadian/French cohort of Parkinson's diseaseQ47852184
The ubiquitin pathway in Parkinson's diseaseQ48015939
The Parkinson disease-related protein DJ-1 counteracts mitochondrial impairment induced by the tumour suppressor protein p53 by enhancing endoplasmic reticulum-mitochondria tetheringQ48158987
VPS13C-Another Hint at Mitochondrial Dysfunction in Familial Parkinson's DiseaseQ48225611
Parkin mutations are frequent in patients with isolated early-onset parkinsonismQ48245134
DNAJC13 genetic variants in parkinsonism.Q48457194
Structure and Function of Fbxo7/PARK15 in Parkinson's Disease.Q48510456
Clinical, positron emission tomography, and pathological studies of DNAJC13 p.N855S ParkinsonismQ48565662
Frequency of the D620N mutation in VPS35 in Parkinson diseaseQ50254806
PARK20 caused by SYNJ1 homozygous Arg258Gln mutation in a new Italian familyQ50471729
Complex phenotypes in an Indian family with homozygous SCA2 mutationsQ51944358
Neuroaxonal dystrophy caused by group VIA phospholipase A2 deficiency in mice: a model of human neurodegenerative diseaseQ52585406
Graft-induced dyskinesias in Parkinson's disease: High striatal serotonin/dopamine transporter ratioQ53223116
Patterns of levels of biological metals in CSF differ among neurodegenerative diseases.Q53316529
VPS29-VPS35 intermediate of retromer is stable and may be involved in the retromer complex assembly processQ53520639
Frequency of parkin mutations in late-onset Parkinson's diseaseQ54314195
ATP13A2 mutations impair mitochondrial function in fibroblasts from patients with Kufor-Rakeb syndrome.Q54532651
A frequent LRRK2 gene mutation associated with autosomal dominant Parkinson's disease.Q54683068
The role of pathogenic DJ-1 mutations in Parkinson's disease.Q54757155
A susceptibility gene for late-onset idiopathic Parkinson's diseaseQ57309530
Genetic screening for a single common LRRK2 mutation in familial Parkinson's diseaseQ57629146
Genome-wide linkage analysis and evidence of gene-by-gene interactions in a sample of 362 multiplex Parkinson disease familiesQ57629162
Collaborative Analysis of α-Synuclein Gene Promoter Variability and Parkinson DiseaseQ57977634
Juvenile dystonia-parkinsonism and dementia caused by a novel ATP13A2 frameshift mutationQ61782148
Clinical analysis of 17 patients in 12 Japanese families with autosomal-recessive type juvenile parkinsonism.Q67242933
Serum levels of zinc and copper in patients with Parkinson's diseaseQ67970656
Response to L-DOPA in multiple system atrophyQ70669094
Western Nebraska family (family D) with autosomal dominant parkinsonismQ72649944
Reversible monoubiquitination regulates the Parkinson disease-associated ubiquitin hydrolase UCH-L1Q79677642
Identification of a novel conserved sorting motif required for retromer-mediated endosome-to-TGN retrievalQ80558370
Regulation of Intracellular Manganese Homeostasis by Kufor-Rakeb Syndrome-associated ATP13A2 ProteinQ34197130
How much phenotypic variation can be attributed to parkin genotype?Q34218728
Defining at-risk populations for Parkinson's disease: lessons from ongoing studiesQ34234632
Parkin genetics: one model for Parkinson's diseaseQ34300017
Mitochondrial quality control mediated by PINK1 and Parkin: links to parkinsonism.Q34309906
Genetic causes of Parkinson's disease: UCHL-1.Q34329594
G51D α‐synuclein mutation causes a novel Parkinsonian–pyramidal syndromeQ34335126
Analysis of the human VPS13 gene familyQ34361025
Human DJ-1-specific Transcriptional Activation of Tyrosine Hydroxylase GeneQ34400824
Slowing of neurodegeneration in Parkinson's disease and Huntington's disease: future therapeutic perspectivesQ34426072
Kufor Rakeb disease: autosomal recessive, levodopa-responsive parkinsonism with pyramidal degeneration, supranuclear gaze palsy, and dementiaQ34429799
DNAJC6 Mutations Associated With Early-Onset Parkinson's Disease.Q34500305
The genetic background of Parkinson's disease: current progress and future prospectsQ34513714
PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain ironQ34568479
Characterization of PLA2G6 as a locus for dystonia-parkinsonismQ34593410
Phenotypic spectrum of patients with PLA2G6 mutation and PARK14 -linked parkinsonismQ34624303
Safety and tolerability of gene therapy with an adeno-associated virus (AAV) borne GAD gene for Parkinson's disease: an open label, phase I trialQ34640765
In vivo demonstration that alpha-synuclein oligomers are toxicQ34652122
A new look at James Parkinson's Essay on the Shaking PalsyQ34657710
Modulation of mitochondrial function and morphology by interaction of Omi/HtrA2 with the mitochondrial fusion factor OPA1.Q34713631
Pallido-pyramidal degeneration, supranuclear upgaze paresis and dementia: Kufor-Rakeb syndromeQ34726815
Recent developments in adeno-associated virus vector technologyQ34775483
The Parkinson's disease protein DJ-1 is neuroprotective due to cysteine-sulfinic acid-driven mitochondrial localizationQ34836156
Phenotype, diagnosis, and treatment of Gaucher's diseaseQ34907714
Impaired dopamine storage resulting from alpha-synuclein mutations may contribute to the pathogenesis of Parkinson's diseaseQ34915213
The Nrf2-ARE cytoprotective pathway in astrocytesQ34984506
Genome-wide association study confirms extant PD risk loci among the DutchQ35030975
Increased expression of alpha-synuclein reduces neurotransmitter release by inhibiting synaptic vesicle reclustering after endocytosisQ35058315
VPS35 mutations in Parkinson diseaseQ35103751
Both ubiquitin ligases FBXW8 and PARK2 are sequestrated into insolubility by ATXN2 PolyQ expansions, but only FBXW8 expression is dysregulatedQ35196519
Parkinsonism among Gaucher disease carriersQ35444509
Novel variant Pro143Ala in HTRA2 contributes to Parkinson's disease by inducing hyperphosphorylation of HTRA2 protein in mitochondria.Q35544534
CHCHD2 inhibits apoptosis by interacting with Bcl-x L to regulate Bax activation.Q35579307
The LRRK2 inhibitor GSK2578215A induces protective autophagy in SH-SY5Y cells: involvement of Drp-1-mediated mitochondrial fission and mitochondrial-derived ROS signaling.Q35679501
Role of PINK1 binding to the TOM complex and alternate intracellular membranes in recruitment and activation of the E3 ligase ParkinQ35783335
Deficiency of Calcium-Independent Phospholipase A2 Beta Induces Brain Iron Accumulation through Upregulation of Divalent Metal Transporter 1Q35823121
Mitochondrial processing peptidase regulates PINK1 processing, import and Parkin recruitmentQ35874914
Disruption of Protein Quality Control in Parkinson's DiseaseQ35902695
Gaucher disease: complexity in a "simple" disorderQ35908938
Preclinical evidence for neuroprotection with monoamine oxidase-B inhibitors in Parkinson's diseaseQ35914877
Ubiquitin, proteasome and parkinQ35967578
Loss of P-type ATPase ATP13A2/PARK9 function induces general lysosomal deficiency and leads to Parkinson disease neurodegeneration.Q36066469
Analysis of neural subtypes reveals selective mitochondrial dysfunction in dopaminergic neurons from parkin mutantsQ36068874
The PINK1-PARKIN Mitochondrial Ubiquitylation Pathway Drives a Program of OPTN/NDP52 Recruitment and TBK1 Activation to Promote MitophagyQ36118105
OPA1 processing controls mitochondrial fusion and is regulated by mRNA splicing, membrane potential, and Yme1L.Q36119045
Amyloid precursor protein (APP) traffics from the cell surface via endosomes for amyloid β (Aβ) production in the trans -Golgi networkQ36132715
Cellular regulation and proposed biological functions of group VIA calcium-independent phospholipase A2 in activated cellsQ36182221
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studiesQ36324942
The role of glucocerebrosidase mutations in Parkinson disease and Lewy body disordersQ36486264
Oxidized DJ-1 Inhibits p53 by Sequestering p53 from Promoters in a DNA-Binding Affinity-Dependent MannerQ36559717
Loss of HtrA2/Omi activity in non-neuronal tissues of adult mice causes premature agingQ36560469
The roles of PINK1, parkin, and mitochondrial fidelity in Parkinson's diseaseQ36611426
Using genome-wide complex trait analysis to quantify 'missing heritability' in Parkinson's diseaseQ36622356
The genetics of Parkinson's disease: Progress and therapeutic implicationsQ36626825
Processing of human cathepsin D is independent of its catalytic function and auto-activation: involvement of cathepsins L and B.Q36646524
Genome-wide linkage analysis of a Parkinsonian-pyramidal syndrome pedigree by 500 K SNP arraysQ36719174
Multiple hit hypotheses for dopamine neuron loss in Parkinson's diseaseQ36785396
Mitochondria on the moveQ36931216
Moving mitochondria: establishing distribution of an essential organelleQ36974920
A multidisciplinary study of patients with early-onset PD with and without parkin mutationsQ37180446
Tissue- and cell-specific mitochondrial defect in Parkin-deficient miceQ27323332
Structure of parkin reveals mechanisms for ubiquitin ligase activationQ27684576
Mutation in the alpha-synuclein gene identified in families with Parkinson's diseaseQ27860459
alpha-Synuclein locus triplication causes Parkinson's diseaseQ27860533
Induction of pluripotent stem cells from mouse embryonic and adult fibroblast cultures by defined factorsQ27860937
Parkinson's disease-linked human PARK9/ATP13A2 maintains zinc homeostasis and promotes α-Synuclein externalization via exosomesQ27932080
Alpha-synuclein is part of a diverse and highly conserved interaction network that includes PARK9 and manganese toxicityQ27934988
Genetics in Parkinson disease: Mendelian versus non-Mendelian inheritanceQ28077356
CHCHD2 mutations in autosomal dominant late-onset Parkinson's disease: a genome-wide linkage and sequencing studyQ28114901
Parkin and PINK1 function in a vesicular trafficking pathway regulating mitochondrial quality controlQ28114972
GIGYF2 is present in endosomal compartments in the mammalian brains and enhances IGF-1-induced ERK1/2 activationQ28116164
ATP13A2 regulates mitochondrial bioenergetics through macroautophagyQ28116275
Inactivation of Omi/HtrA2 protease leads to the deregulation of mitochondrial Mulan E3 ubiquitin ligase and increased mitophagyQ28116294
Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPaseQ28116395
eIF4GI links nutrient sensing by mTOR to cell proliferation and inhibition of autophagyQ28118343
ATP13A2 (PARK9) polymorphisms influence the neurotoxic effects of manganeseQ28118761
Loss of Omi mitochondrial protease activity causes the neuromuscular disorder of mnd2 mutant miceQ28208193
Reduced vesicular storage of dopamine causes progressive nigrostriatal neurodegenerationQ28237641
Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's diseaseQ28244731
Translation initiator EIF4G1 mutations in familial Parkinson diseaseQ28247679
Loss of function mutations in the gene encoding Omi/HtrA2 in Parkinson's diseaseQ28257086
The mitochondrial serine protease HtrA2/Omi: an overviewQ28263602
Interaction between the Grb10 SH2 domain and the insulin receptor carboxyl terminusQ28277690
Evidence for the direct interaction of the insulin-like growth factor I receptor with IRS-1, Shc, and Grb10Q28287946
The oxidation state of DJ-1 regulates its chaperone activity toward alpha-synucleinQ28290750
Mutation in the SYNJ1 gene associated with autosomal recessive, early-onset ParkinsonismQ28293555
Mapping of a gene for Parkinson's disease to chromosome 4q21-q23Q28295005
FBXO7 mutations cause autosomal recessive, early-onset parkinsonian-pyramidal syndromeQ28302099
AAV2-mediated delivery of human neurturin to the rat nigrostriatal system: long-term efficacy and tolerability of CERE-120 for Parkinson's diseaseQ28304068
A common LRRK2 mutation in idiopathic Parkinson's diseaseQ28304886
DJ-1, a novel oncogene which transforms mouse NIH3T3 cells in cooperation with rasQ28305931
Embryonic stem cells develop into functional dopaminergic neurons after transplantation in a Parkinson rat modelQ28344741
Truncated initiation factor eIF4G lacking an eIF4E binding site can support capped mRNA translationQ28345095
P275copyright licenseCreative Commons Attribution 4.0 InternationalQ20007257
P6216copyright statuscopyrightedQ50423863
P433issue6
P407language of work or nameEnglishQ1860
P921main subjectgenetic variationQ349856
neurodegenerationQ1755122
cellQ7868
mutationQ42918
Parkinson's diseaseQ11085
genetic predisposition to diseaseQ64843122
P5008on focus list of Wikimedia projectScienceSourceQ55439927
P304page(s)1153-1178
P577publication date2018-04-26
2018-08-01
P13046publication type of scholarly workreview articleQ7318358
P1433published inCellular and Molecular NeurobiologyQ2333197
P1476titleParkinson Disease from Mendelian Forms to Genetic Susceptibility: New Molecular Insights into the Neurodegeneration Process
P478volume38

Reverse relations

cites work (P2860)
Q97519933Abnormal Mitochondrial Quality Control in Neurodegenerative Diseases
Q92632030Antioxidant Therapy in Parkinson's Disease: Insights from Drosophila melanogaster
Q92703211Case of Early-Onset Parkinson's Disease in a Heterozygous Mutation Carrier of the ATP7B Gene
Q60912710Circadian Rhythm Abnormalities in Parkinson's Disease from Humans to Flies and Back
Q89511106Copper Ions and Parkinson's Disease: Why Is Homeostasis So Relevant?
Q60915121Essential Tremor and Parkinson's Disease: Exploring the Relationship
Q64881100Evaluation of the frequency of non-motor symptoms of Parkinson's disease in adult patients with Gaucher disease type 1.
Q90637775Exosomes from Human Periapical Cyst-MSCs: Theranostic Application in Parkinson's Disease
Q90321601Functional and Neuroprotective Role of Striatal Adenosine A2A Receptor Heterotetramers
Q90745434Microbiota and Other Preventive Strategies and Non-genetic Risk Factors in Parkinson's Disease
Q90576886PF-06649751 efficacy and safety in early Parkinson's disease: a randomized, placebo-controlled trial
Q64904807Parkinson's Disease: Biomarkers, Treatment, and Risk Factors.
Q60923524Parkinson's disease and Alzheimer's disease: a Mendelian randomization study
Q99609968Post-GWAS knowledge gap: the how, where, and when
Q91635251Protein-Protein Interactions in Alpha-Synuclein Biogenesis: New Potential Targets in Parkinson's Disease
Q60921580Roco Proteins: GTPases with a Baroque Structure and Mechanism
Q61800082The Effects of rs894278 on Resting-State Brain Activity in Parkinson's Disease
Q92862300The Ras Superfamily of Small GTPases in Non-neoplastic Cerebral Diseases
Q57026122Using Patient-Derived Induced Pluripotent Stem Cells to Identify Parkinson's Disease-Relevant Phenotypes
Q92861469Vesicular Dysfunction and the Pathogenesis of Parkinson's Disease: Clues From Genetic Studies

Search more.