Gene Information from Publications |
| Publication Link |
Summary of findings |
| 18211709 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 18211709 |
This study found mutations in PRKN genes. Seven of the studied patients showed pathogenic mutations, in homozygosity or compound heterozygosity for PRKN. |
| 18003639 |
document the influence of Parkin on Pink1 subcellular distribution, providing further evidence for a common pathogenic pathway in recessive Parkinson's disease |
| 12973932 |
Observational study of gene-disease association. (HuGE Navigator) |
| 12975291 |
Observational study of gene-disease association. (HuGE Navigator) |
| 14639672 |
Observational study of gene-disease association. (HuGE Navigator) |
| 14737177 |
Observational study of gene-disease association. (HuGE Navigator) |
| 15108293 |
Observational study of gene-disease association. (HuGE Navigator) |
| 15192821 |
Observational study of gene-disease association. (HuGE Navigator) |
| 15261877 |
Observational study of gene-disease association. (HuGE Navigator) |
| 15266615 |
Observational study of gene-disease association. (HuGE Navigator) |
| 15315343 |
Observational study of gene-disease association. (HuGE Navigator) |
| 15584030 |
Observational study of gene-disease association. (HuGE Navigator) |
| 15823482 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 15970950 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 16019250 |
Observational study of gene-disease association. (HuGE Navigator) |
| 16157901 |
Observational study of gene-disease association. (HuGE Navigator) |
| 16227559 |
Observational study of gene-disease association. (HuGE Navigator) |
| 16269266 |
Observational study of gene-disease association. (HuGE Navigator) |
| 16367892 |
Observational study of genotype prevalence and gene-disease association. (HuGE Navigator) |
| 16391553 |
Observational study of gene-disease association. (HuGE Navigator) |
| 16500134 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 16606767 |
Observational study of gene-disease association. (HuGE Navigator) |
| 16643317 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 16734611 |
Observational study of gene-disease association. (HuGE Navigator) |
| 16793319 |
Observational study of gene-disease association. (HuGE Navigator) |
| 17187375 |
Observational study of gene-disease association. (HuGE Navigator) |
| 17280783 |
Observational study of gene-disease association. (HuGE Navigator) |
| 17285542 |
Observational study of gene-disease association. (HuGE Navigator) |
| 17324265 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 17335904 |
Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator) |
| 17400506 |
Observational study of gene-disease association. (HuGE Navigator) |
| 17415800 |
Observational study of genetic testing. (HuGE Navigator) |
| 17680541 |
Observational study of gene-disease association. (HuGE Navigator) |
| 17766365 |
Observational study of gene-disease association. (HuGE Navigator) |
| 18022644 |
Observational study of gene-disease association. (HuGE Navigator) |
| 11215568 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 11248588 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 11468333 |
Observational study of gene-disease association. (HuGE Navigator) |
| 11971093 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 12112109 |
Observational study of gene-disease association. (HuGE Navigator) |
| 12165399 |
Observational study of gene-disease association. (HuGE Navigator) |
| 12270650 |
Observational study of gene-disease association. (HuGE Navigator) |
| 12374768 |
Observational study of gene-disease association. (HuGE Navigator) |
| 12397156 |
Observational study of genotype prevalence and gene-disease association. (HuGE Navigator) |
| 12584415 |
Observational study of gene-disease association. (HuGE Navigator) |
| 12764050 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 12781599 |
Observational study of gene-disease association. (HuGE Navigator) |
| 12784265 |
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator) |
| 12891670 |
Observational study of gene-disease association. (HuGE Navigator) |
| 17934880 |
Hyperechogenicity of the SN is found in both idiopathic and Parkin-associated PD and larger aSN was associated with an increasing number of mutated alleles in this study. |
| 18004887 |
a GB1-Ubld fusion protein was characterized by NMR spectroscopy to show that the R42P mutation causes the complete unfolding of the parkin Ubld. |
| 17976945 |
the relative abundance of parkin enhances differentiation of noradrenergic phenotypes via a protein kinase A-dependent pathway |
| 17766365 |
There were significantly more rare heterozygous parkin variants in patients (n = 10) with early-onset PD than in controls. (n = 2). |
| 17400506 |
Lack of evidence for association of Parkin promoter polymorphism (PRKN-258) with increased risk of Parkinson's disease. |
| 17935510 |
Homozygous Ser167 and Val380 are significantly associated with Parkinson's disease. |
| 17989306 |
Human parkin but not Parkinson's disease-associated mutants can rescue mitochondrial pathology in human cells like wild-type PTEN induced putative kinase 1 (PINK1). |
| 17873367 |
Parkin protects against dopamine-induced cell toxicity in dopaminergic SK-N-SH cells. |
| 16449237 |
Parkin is expressed ubiquitously in a variety of cells, localized exclusively to mitochondria in a proliferating condition. |
| 17722288 |
The observed features of genotypic distribution by PARK2 marker point to the influence of the considered marker on the incidence of tuberculosis. |
| 17724286 |
Relative to controls without a mutation, Parkin and PINK1 mutation carriers displayed a bilateral increase in gray matter volume in the putamen and the internal globus pallidus. |
| 17512523 |
These findings demonstrate a cell-type dependent functional interaction between parkin and LIMK1 and provide new evidence that links parkin and LIMK1 in the pathogenesis of familial PD. |
| 17687034 |
Parkin Arg275Trp mutant expression mediates pathogenic outcomes and suggests the interesting possibility that select parkin mutations may directly exert neurotoxicity in vivo. |
| 15896322 |
Our findings indicate that both parkin and alpha-SN share a common pathway in DA metabolism whose abnormality leads to accumulation of oxidative DA metabolites and subsequent cell death. |
| 12972409 |
brain parkin expression is age and species specific |
| 12972428 |
C-terminal truncations impede parkin folding and reveal a new mechanism for inactivation of parkin. |
| 15132984 |
ubiquitin, HSP27, parkin, and alpha-synuclein by gamma-glutamyl-epsilon-lysine bonds in Alzheimer's neurofibrillary tangles. Lys(48) is the site of the bond in parkin. |
| 17280783 |
We speculate that reduced expression of normal parkin protein may result in an early manifestation of PD symptoms. |
| 12150907 |
CHIP is associated with Parkin, a gene responsible for familial Parkinson's disease, and enhances its ubiquitin ligase activity. |
| 15642853 |
41 probands of two carriers had novel heterozygous exon 11 R396G substitutions. One proband had PRKN exon 2 deletion and an exon 7 G284R substitution. |
| 16130151 |
The presence of parkin mutations in substantia nigra in Parkinson's disease may increase neuronal vulnerability to a range of toxic insults. |
| 12692130 |
Caspases responsible for parkin cleavage were identified by several experimental paradigms exploring the anti-Fas induced pathway and tnf-alpha pathway. |
| 12815654 |
We report a novel heterozygous 40 base pair deletion in exon 3 of the parkin gene that increases the susceptibility of carriers to develop parkinsonism/dystonia and manifests variability in regard to age of onset and phenotype in a single family. |
| 16819513 |
Chromosome break at PARK2 is associated with breast cancer |
| 15326242 |
An autosomal recessive juvenile parkinsonism patient had a homozygous exon 3 deletion in the parkin gene and [alpha]-synuclein-positive inclusions, suggesting a close relationship between ARJP and idiopathic PD. |
| 15198987 |
parkin protects against dopamine toxicity by decreasing oxidative stress and ensuing activation of apoptotic programs. |
| 12670421 |
coexpression of Parkin degrades Pael-R and suppresses its toxicity; study implicates Parkin as a central player in the molecular pathway of Parkinson's disease |
| 15078880 |
Data show that a phylogenetically conserved N-myc binding site in the parkin promoter interacted with myc-family transcription factors, and N-myc bound to the parkin promoter and repressed transcription activity. |
| 17068781 |
Novel mutation, consisting of a deletion of the promoter and exon 1 of parkin (c.1-?_7+?del), in a family compatible with autosomal recessive early onset PD and an isolated case. |
| 14737177 |
Variants in the regulatory region shared by PARK2 and PACRG therefore act as common risk factors for leprosy |
| 15718234 |
and parkin contribute to the assembly of ubiquitin lysine 63-linked multiubiquitin chains |
| 15728840 |
Parkin is a dual-function ubiquitin ligase. K63-linked ubiquitination of synphilin-1 by parkin may be involved in the formation of Lewy body inclusions associated with Parkinson disease. |
| 15862897 |
Direct sequencing of parkin did not detect mutations, but semi-quantitative analysis identified a novel exonic rearrangement of exons 2-4. Both patients were homozygous for unique genomic triplications of the parkin gene. |
| 16244875 |
clinical and laboratory data provide corroborative evidence that some older individuals who have the -258G variant in parkin promotor region may have a higher risk of developing Parkinson's disease |
| 16511856 |
Parkin-positive patients appear to have a greater susceptibility to the exposure to dopaminergic medication than idiopathic Parkinson's disease patients. |
| 12114481 |
Five novel mutations at the parkin locus are reported here consisting of one missense mutation, three exon duplications, and one exon deletion. |
| 12374768 |
Functional association of the parkin gene promoter with idiopathic Parkinson's disease. |
| 14614460 |
analysis of Parkin protein expression with antibodies revealed that most of the ovarian cancer cell lines and primary tumors had diminished or absent Parkin expression and it is suggested it may be a tumor suppressor gene |
| 15101042 |
The loss of Parkin contributes to the development of hepatocarcinoma. |
| 15737990 |
Parkin stabilizes microtubules through strong binding mediated by three independent domains |
| 15987638 |
Parkin interacts with the proteasome subunit alpha4 |
| 16352719 |
leucine-rich repeat kinase 2 may be involved in a pathogenic pathway with other parkinson's disease (PD) -related proteins such as parkin, which may help illuminate both familial and sporadic PD |
| 14519684 |
RING finger 1 mutations in PARKN produce altered localization of the proteins. |
| 15557340 |
complex regulation of the phosphorylation state of parkin may contribute to the unfolded protein response in stressed cells. |
| 15894486 |
We confirm that synphilin-1 and parkin are components of majority of LBs in Parkinson's disease and that both proteins are susceptible to proteasomal degradation. |
| 15781988 |
Authors suggest that PARK2 functions as a ubiquitin ligase and a mutation would induce ubiquitin-proteasome dysfunction resulting in autosomal recessive juvenile parkinsonism. |
| 16502212 |
This study demonstrated corticospinal dysfunction in patient with parkinson disease and suggest that the extent of central nervous system involvement in parkin disease may be wider that hitherto supposed. |
| 16837855 |
R42P mutant retained functional activity in contrast to the W453stop mutant. Accordingly, the functional impairment by the mutations is not simply caused by turning the proteins insoluble. |
| 12691660 |
role for parkin in maintaining dopaminergic neuronal integrity and strengthen the link between autosomal recessive juvenile-onset form of Parkinson's disease and the more common sporadic form of Parkinson's disease (review) |
| 12548339 |
Loss of striatal dopamine transporters was widespread and bilateral in the patient carrying the Park2 mutation, suggesting a different pattern of denervation in these individuals. |
| 16476817 |
study suggests that complex gene-environment interactions may play a role in the pathogenesis of parkin gene early-onset parkinson's disease |
| 16793319 |
Among eastern Indian Parkinson disease patients, mutation in Parkin was identified in 7.24% cases |
| 17329252 |
analysis of sensitivity of parkin and other cysteine-containing enzymes to stress-induced solubility alterations |
| 16227987 |
PRKN can be modified by dopamine, the principal transmitter lost in Parkinson disease, suggesting a mechanism for the progressive loss of its function in dopaminergic neurons during aging and sporadic Parkinson disease. |
| 12673578 |
Point mutation in parkin gene contributes partly to the development of early-onset Parkinson's disease in Chinese population. |
| 12784265 |
The identification of pathogenic mutations in the three genes alpha-synuclein, parkin, and UCHL1 has elucidated the ubiquitin proteasome system (UPS) and its potential role as a causal pathway in Parkinson's disease (PD). |
| 15606901 |
Four N-terminal missense mutations, located within the ubiquitin-like domain, decrease the stability of pathogenic parkin; as a consequence, these mutants are rapidly degraded by the proteasome. |
| 14987449 |
Review presents evidence for the major role of parkin in vulnerable neurons, i.e., to protect against alpha synuclein toxicity. |
| 16339143 |
pathogenic mutations of Parkin catalyze multiple monoubiquitylation in vitro |
| 12034719 |
mutant Parkin in substantia nigra in juvenile parkinsonism may increase oxidative stress and nitric oxide production |
| 12364339 |
wild-type Parkin aggregates and forms inclusions, which may have implications for the pathogenesis of sporadic PD |
| 12628165 |
Parkin protein overexpression attenuates the accumulation of cyclin E in toxin-treated primary neurons, including midbrain dopamine neurons, and protects them from apoptosis. |
| 15252205 |
Data show both in vitro and in vivo that nitrosative stress leads to S-nitrosylation of wild-type parkin and, initially, to a dramatic increase followed by a decrease in the E3 ligase-ubiquitin-proteasome degradative pathway. |
| 15300670 |
The parkin may play a role in the peripheral nervous system. |
| 15823482 |
six novel mutations were found in the Parkin gene, and these included five heterozygous point mutations (C441R, Q311H, V258M, C212G, and S193I) and one homozygous deletion (exon 10-12). |
| 16086186 |
the parkin E4SV splice variant may have a role in sporadic sporadic Parkinson's disease |
| 15455441 |
This study shows that Rapid eye movement sleep behavior disorder is frequent in Park2, suggesting that mechanisms other than synuclein deposition can cause Rapid eye movement sleep behavior disorder in neurodegenerative disorders. |
| 12719539 |
This gene, implicated in autosomal recessive juvenile parkinsonism, is a candidate tumor suppressor gene on chromosome 6q25-q27 in breasssssst asnd ovarian cancers. |
| 16332688 |
the intracellular levels of RanBP2 and its functional activity may be modulated by Parkin-mediated ubiquitination and proteasomal pathways |
| 16367892 |
heterozygous mutations in the Parkin gene may act as susceptibility alleles for late-onset forms of Parkinson disease in rare cases |
| 16840513 |
PPI screens for parkin, a hereditary Parkinson's disease gene, elucidated the function of parkin as an E3 ubiquitin ligase, with localization regulated by contact with interaction partners, uncovering part of the pathogenesis of Parkinson's disease. |
| 17353387 |
Compound heterozygous mutations (EX 3_6 del and EX 5 del) in the parkin gene were identified in 2 patients with EOPD |
| 17467279 |
These findings suggest that parkin and synphilin-1 isoform expression changes play a significant role in the pathogenesis of LB diseases. |
| 17465879 |
These results indicate that induction of parkin by ER stress represents a cell type-specific response. |
| 12044248 |
role in Parkinson disease [review] |
| 12634850 |
This protein binds the Rpn10 subunit of 26S proteasomes through its ubiquitin-like domain. |
| 14991825 |
Pael-R is accumulated in Lewy bodies of Parkinson's disease |
| 15453267 |
Extensive splicing of parkin produces regional and structural diversity and may have important implications for the pathogenetic mechanisms underlying parkinson disease. |
| 11889248 |
A missense mutation (Arg275Trp) and a duplication of exon 7 of parkin was discovered in a case of early-onset hemiparkinsonism and ipsilateral body hemiatrophy. |
| 16287063 |
candidate tumor suppressor genes PARK2 and PACRG are epigenetically regulated in human leukemia, suggesting that abnormal methylation and regulation of PARK2 and PACRG may play a role in the pathogenesis and development of this hematological neoplasm |
| 16636914 |
Overexpression of parkin and ceramide treatment both modulated gene expression |
| 17267552 |
Expression of mutant, but not wild-type human parkin in Drosophila causes age-dependent degeneration of dopaminergic neurons. |
| 15102676 |
Parkin is a tumor suppressor gene whose inactivation may play an important role in non-small cell lung cancer tumorigenesis |
| 15492001 |
studies suggest that parkin increases dopamine uptake by enhancing the ubiquitination and degradation of misfolded dopamine transporter (DAT) |
| 15717024 |
linkage to six chromosomal regions and have identified three causative genes: PARK1 (alpha-synuclein), PARK2 (parkin), and PARK7 (DJ-1) in Parkinson disease |
| 12362318 |
relationship between point mutations on exon 2 of parkin gene and sporadic early-onset Parkinson's disease |
| 14727181 |
Genetics of parkin-linked disease. Review. |
| 15261877 |
Causative sequence variants in the parkin gene have not been identified in this cohort of Italian essential tremor patients. |
| 16455660 |
PRKN suppresses the expression of monoamine oxidases. |
| 16769863 |
Mutations were found in 23 families. Among the mutation-positive families, 10 contained compound heterozygotes; 3 homozygotes; and 10 heterozygotes. The onset age in patients with parkin gene mutations ranged from 20 to 76 years. |
| 16826604 |
Our finding provides the evidence for a relationship between parkin and a neurotransmitter receptor, suggesting that parkin may play an important role in synaptic activity. |
| 16905117 |
Possesses anti-apoptotic and anti-oxidant function in neuronal or myogenic cells but not in kidney cells. |
| 17017530 |
parkin responsible for Park2 is essential for the formation of Lewy bodies--REVIEW |
| 12165399 |
Genetic variation at the PARKIN gene (including promoter polymorphisms) does not contribute to the risk of developing Parkinson's disease in the general population. |
| 11839750 |
cleavage mediated by caspase in apoptosis |
| 12000718 |
Results suggest that functional parkin proteins may be required during LB formation. |
| 12781599 |
parkinsonism due to mutations in the parkin gene is extremely rare in the US population when the disease begins over the age of 30. |
| 12925569 |
parkin interacts with and ubiquitinates synaptotagmin XI |
| 14678753 |
Two Parkin mutations (C289G and C418R), which replace cysteine residues in the RING domains, decrease the solubility of Parkin in cells. Upon overexpression, the presumably misfolded proteins formed cytoplasmic aggregates. |
| 12116199 |
Data confirmed that recessive loss of Parkin is not only a risk factor for juvenile and early onset Parkinsonism but that Parkin haplo-insufficiency may be sufficient for disease in some cases. |
| 15105460 |
parkin is S-nitrosylated in vitro, as well as in vivo in brains of patients with Parkinson's disease and diffuse Lewy body disease; S-nitrosylation inhibits parkin's ubiquitin E3 ligase activity and its protective function |
| 12891670 |
patients with a single parkin mutation had significantly later and more asymmetrical onset and more frequent levodopa-induced fluctuations and dystonia than patients with two mutations |
| 16049031 |
Not all parkin mutations result in loss of parkin's E3 ligase activity, but they all appear to manifest as loss-of-function mutants due to defects in solubility. |
| 16517073 |
These results suggest that RT-PCR using the patients' fibroblasts may be helpful for the detection of compound heterozygous abnormalities in the parkin gene. |
| 16914382 |
parkin acts as a potent neuroprotective agent in vivo against 6-hydroxydopamine toxic insults |
| 17314283 |
Interacts with and promotes degradation-independent ubiquitylation of IKKgamma/NEMO and TRAF2. Direct link between neuroprotective activity of parkin and ubiquitin signaling in IKK/NF-kappaB pathway. |
| 15090075 |
Parkin expression suppresses alpha-synuclein induced toxicity in drosophila. |
| 12548343 |
Autosomal recessive early onset parkinsonism is linked to three loci: PARK2, PARK6, and PARK7. |
| 12138708 |
role in pathogenesis of juvenile autosomal dominant Parkinson disease - review |
