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Validated All-in-One™ qPCR Primer for PINK1(NM_032409.2) Search again
Product ID:
HQP017298
(click here to view gene annotation page)
Powered by BiozSpecies:
Human
Symbol:
Alias:
BRPK, PARK6
Gene Description:
PTEN induced kinase 1
Target Gene Accession:
NM_032409.2(click here to view gene page)
Estimated Delivery:
Approximately 1-3 weeks, but may vary. Please email sales@genecopoeia.com or call 301-762-0888 to confirm ETA.
Important Note:
By default, qPCR primer pairs are designed to measure the expression level of the splice variant (accession number) you selected for this gene WITHOUT consideration of other possible variants of this gene. If this gene has multiple variants, and you would like to measure the expression levels of one particular variant, multiple variants, or all variants, please contact us for a custom service project at inquiry@genecopoeia.com.
Validated result:
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| A | B |
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Each All-in-One™ qPCR Primer is experimentally validated to yield a single dissociation curve peak and to generate a single amplification of the correct size for the targeted gene. A cDNA Pool, containing reverse transcript products of 8 different human tissue total RNA(Liver, Testis,Muscle,Thyroid,Brain,Spleen,Stomach,Small Intestine)),was used as the qPCR validation template. qPCR was performed using 0.2 µM primer with 2XAll-in-One™ qPCR Mix (Catalog#: QP001,QP002,QP004,QP005). Reactions were incubated for 10min. at 95°C, followed by 40 cycles of 95°C for 10 sec.; 60°C, 20 sec. and 72°C, 15sec. using Bio-Rad iQ5™ Instrument. At the end of the last cycle, temperature was increased from 72 to 95°C to produce a melting curve. Panel A: Validated Result for Amplification Curve; Panel B: Validated Result for Melting Curve. |
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Summary
This gene encodes a serine/threonine protein kinase that localizes to mitochondria. It is thought to protect cells from stress-induced mitochondrial dysfunction. Mutations in this gene cause one form of autosomal recessive early-onset Parkinson disease. [provided by RefSeq].
Gene References into function
- The subclinical loss of striatal dopamine storage capacity found in PARK6 carriers implies that the unidentified gene on the short arm of chromosome 1 exhibits either haploinsufficency or a dominant negative effect.
- Autosomal recessive early onset parkinsonism is linked to three loci: PARK2, PARK6, and PARK7.
- PARK6 appears to be an important locus for autosomal recessive juvenile parkinsonism in Europe.
- mutations in PINK1 are associated with PARK6 a locus linked to a rare familial form of Parkinson disease; cell culture studies suggest that PINK1 is mitochondrially located and may exert a protective effect on the cell that is abrogated by the mutations
- Strong evidence indicates that, although important in mendelian forms of Parkinson's disease (PD), PINK1 does not influence the cause of sporadic nonmendelian forms of PD.
- Six novel pathogenic PINK1 mutations suggest that PINK1 may be the second most common causative gene next to parkin in parkinsonism with the recessive mode of inheritance.
- The results indicate worldwide distribution of PARK6-linked parkinsonism.
- Overall, these data indicate that PINK1 mutations are a rare cause of PD in Ireland.
- Autosomal recessive mutations in PINK1 are a rare cause of young-onset Parkinson disease.
- These results show that PINK1 is processed at the N terminus in a manner consistent with mitochondrial import, but the mature protein also exists in the cytosol.
- The G309D and W437OPA mutations in PINK1 gene probably do not represent common causes of familial or sporadic PD in a Caucasian population.
- Thus, early-onset PD with dementia may be considered PINK1-linked parkinsonism. Furthermore, patients with PINK1 mutations form 8.9% of parkin- and DJ-1-negative ARPD families.
- A patient homozygous for A PINK1 mutation was characterized clinically. All clinical and laboratory features, including SPECT and assessment of autonomic function, were indistinguishable from typical idiopathic Parkinson disease.
- PINK1 homozygous mutations are a relevant cause of disease among Italian sporadic patients with early-onset parkinsonism.
- PINK1 reduces the basal neuronal pro-apoptotic activity and protects neurons from staurosporine-induced apoptosis; loss of this protective function may underlie degeneration of nigral dopaminergic neurons in patients with PINK1 mutations
- Both wild-type and mutant PINK1 proteins localize to mitochondria and prove that a short N-terminal part of PINK1 is sufficient for its mitochondrial targeting.
- PINK1 participates in the protection of dopaminergic neurons
- The phenotypic spectrum associated with PINK1-positive Parkinson disease patients may be wider than previously reported.
- PINK1 mutations (homozygous nonsense and heterozygous missense) that highlight issues in Parkinson disease diagnosis.
- PINK1 and DJ-1 may have a role in early-onset Parkinson's disease and physically associate and collaborate to protect cells against stress via complex formation
- Expression of human PINK1 in the Drosophila testes restores male fertility and normal mitochondrial morphology in a portion of pink1 mutants, demonstrating functional conservation between human and Drosophila Pink1
- A patient, heterozygote for W437X mutation, was affected by Parkinson's disease and 3 further relatives were reported affected, according to an autosomal dominant transmission.
- Heterozygous PINK1 mutations may predispose to PD, as was previously suggested by the presence of dopamine hypometabolism in asymptomatic mutation carriers.
- This study extends the phenotypic and molecular spectrum of the PINK1 gene and the geographic origin of patients with PINK1 gene mutations.
- PINK1 mutations mutations are a significant risk factor in the development of later onset Parkinson's disease
- Thus, in addition to the activation segment, the C-terminal tail of PINK1 also contains regulatory motifs capable of governing PINK1 kinase activity.
- This finding suggests a role not only of homozygous but also of heterozygous PINK1 mutations in the development of parkinsonian signs and underlines the necessity to carefully investigate family members of affected mutation carriers.
- PINK-1 encodes the PTEN induced kinase 1 and is located to provide a link between mitochondria and the pathogenesis of Parkinson disease--REVIEW
- We genotyped eight known mutations in three clinic-based cohorts with Parkinsonism and found one homozygous p.L347P mutation in PINK1.
- PINK1 A340T variant may contribute to the risk for late-onset PD in Chinese.
- These data indicate that PINK1 function is critical to prevent oxidative damage and that peripheral cells may be useful for studies of progression and therapy of PARK6.
- Deletion of the entire PINK1 gene and a splice site mutation (g.15445_15467del23) which produces several aberrant mRNAs in Parkinson disease.
- PINK1 mutations are rare in Norwegian patients with EOP and familial Parkinson's disease;however, the data suggest that some heterozygous mutations might increase the risk of developing Parkinson's disease
- affective and psychotic symptoms may be part of the phenotypic spectrum or even the sole manifestation of PINK1 mutations
- Absence of correlation between PINK1 mRNA levels and clinical status in heterozygous mutation carriers suggests that other genetic or environmental factors play a role in determining the phenotypic variability in Parkinson disease.
- a mammalian non-coding antisense molecule can positively influence the abundance of a cis-transcribed mRNA; dsRNA-mediated mechanism for stabilizing the expression of svPINK1
- possible association of IVS5-5G>A polymorphism, positioned in the upstream region of exon 5 of PINK1 gene with the risk for sporadic late onset Parkinson disease (LOPD) in Chinese
- regulation of the PINK1 locus, linked to neurodegenerative disease, is altered in obesity, NIDDM and inactivity, while the combination of RNAi experiments and clinical data suggests a role for PINK1 in cell energetics
- PINK1 exerts anti-apoptotic effect by inhibiting the opening of mPTP and that PARK6 mutant PINK1 loses its ability to prevent mPTP opening and cytochrome c release.
- 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
- sleep disturbances were not found in PARK6 parkinsonism patients
- humans PINK1 message is expressed in neurons with very little to no signal in glia and no difference in parkinson disease.
- The incidence of carrying PINK1 mutations in the present cohort of Taiwanese EOPD patients was low, accounting for 2/39 (5.1 %) in familial cases, and 2/99 (2 %) in sporadic cases.
- PINK1 deficiency in humans results in mitochondrial abnormalities associated with cellular stress, a pathological phenotype, which can be ameliorated by enhanced expression of parkin.
- document the influence of Parkin on Pink1 subcellular distribution, providing further evidence for a common pathogenic pathway in recessive Parkinson's disease
- DeltaN 54 kDa PINK1 undergoes constitutive degradation by proteasome, and underscore the significance of its localization in cytoplasm, especially in the N-terminally processed form.
- no PINK1 gene mutation was found in any of the probands from six Caucasian early-onset Parkinson disease families
- No mutations were found in PINK1 in Parkinson disease patients from Portugal.
- Limbic and frontal cortical degeneration is associated with psychiatric symptoms in PINK1 mutation carriers.
- May be involved in apoptosi, oxidative stress, and development of Parkinson disease.
- Homozygous mutations in the PINK1 gene have been shown to cause early-onset parkinsonism. Here, we describe a novel homozygous mutation (Q126P), identified in two affected German sisters with a clinical phenotype typical for PINK1-associated parkinsonism
- Homozygous or compound heterozygous mutations in the PINK1 gene represent the second most frequent cause of autosomal recessive parkinsonism after Parkin protein.
- retrospectively analyzed the occurrence of PINK1 heterozygous rare variants in over 1100 sporadic and familial Parkinson disease patients of all onset ages and in 400 controls
- Hsp90 and Cdc37 are binding partners of PINK1 which regulate its stability
- Patients with Parkin or PINK1 mutations benefit from subthalamic nucleus deep brain stimulation, but clinical response is not superior to non-mutation carriers and may be limited by more advanced axial motor symptoms at a relatively early disease stage.
- Our findings support a dual subcellular localization, implying that PINK1 can reside in the mitochondria and the cytosol. This raises intriguing functional roles that bridge these two cellular compartments.
- PINK1 gene mutations are linked to Parkinson disease
- In this study found one patient carried a p.G411S heterozygous amino acid change in the PINK1 gene.
- PINK1 polymorphisms are associated with PINK1 transcript levels and measures of fatty acid metabolism in a concordant manner, whereas our RNAi data imply that PINK1 may indirectly influence lipid metabolism.
- Results show a co-segregation of a Parkinson's disease related nuclear gene (PINK1) mutation with mtDNA mutation.
- Data emphasize the importance of heterozygous PINK1 mutations as a possible risk factor for developing the common classic form of sporadic Parkinson disease.
- A new heterozygous mutation (p.R58-V59insGR) was found in exon 1 of PINK1. PINK1 mutation may modify parkin-mutation-positive Parkinsonism. PINK1 mutations may be associated with schizophrenia.
- phenotypic effects of PINK1 loss-of-function described here in mammalian neurons provides mechanistic insight into the age-related degeneration of nigral dopaminergic neurons seen in Parkinson disease
- Data show that higher tactile and visuo-tactile temporal discrimination threshold and temporal order judgement are detected in in PINK1 mutation carriers.
- Only four PINK1 mutations were pathogenic. Several PINK1 sequence variants are potentially benign and there was no evidence that PINK1 heterozygosity increases susceptibility to idiopathic Parkinson disease.
- These results demonstrate the biochemical relationship between PINK1, Parkin, and the mitochondria and thereby suggest the possible mechanism of PINK-Parkin-associated PD pathogenesis.
- Its missense mutation causes autosomal recessive juvenile parkinsonism.
- Mutations in PINK1 are associated with the PARK6 autosomal recessive, early-onset, Parkinson disease-susceptibility locus
- The PINK1 gene in Jordanian families with incidences of young-onset and juvenile parkinsonism is identified two novel putative pathogenic substitutions, P416R and S419P, located in a conserved motif of the serine/threonine kinase domain.
- Combined expression of BUB1B and PINK1 was the best predictor of overall survival in malignant adrenal cortex neoplasms. Combined expression of DLG7 and PINK1 was the best predictor of disease free survival.
- PINK1-associated Parkinson's disease is caused by neuronal vulnerability to calcium-induced cell death.