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==References== | ==References== | ||
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==Further reading== | ==Further reading== | ||
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Revision as of 20:38, 4 September 2012
| PTEN induced putative kinase 1 | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||||
| Symbols | PINK1 ; BRPK; FLJ27236; PARK6 | ||||||||||
| External IDs | Template:OMIM5 Template:MGI HomoloGene: 32672 | ||||||||||
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| RNA expression pattern | |||||||||||
| File:PBB GE PINK1 209018 s at tn.png | |||||||||||
| File:PBB GE PINK1 209019 s at tn.png | |||||||||||
| More reference expression data | |||||||||||
| Orthologs | |||||||||||
| Template:GNF Ortholog box | |||||||||||
| Species | Human | Mouse | |||||||||
| Entrez | n/a | n/a | |||||||||
| Ensembl | n/a | n/a | |||||||||
| UniProt | n/a | n/a | |||||||||
| RefSeq (mRNA) | n/a | n/a | |||||||||
| RefSeq (protein) | n/a | n/a | |||||||||
| Location (UCSC) | n/a | n/a | |||||||||
| PubMed search | n/a | n/a | |||||||||
PTEN induced putative kinase 1, also known as PINK1, is a human gene.
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.[1]
References
Further reading
- Heutink P (2006). "PINK-1 and DJ-1--new genes for autosomal recessive Parkinson's disease". J. Neural Transm. Suppl. (70): 215–9. PMID 17017532.
- Valente EM, Bentivoglio AR, Dixon PH; et al. (2001). "Localization of a novel locus for autosomal recessive early-onset parkinsonism, PARK6, on human chromosome 1p35-p36". Am. J. Hum. Genet. 68 (4): 895–900. PMID 11254447.
- Unoki M, Nakamura Y (2001). "Growth-suppressive effects of BPOZ and EGR2, two genes involved in the PTEN signaling pathway". Oncogene. 20 (33): 4457–65. doi:10.1038/sj.onc.1204608. PMID 11494141.
- Khan NL, Valente EM, Bentivoglio AR; et al. (2002). "Clinical and subclinical dopaminergic dysfunction in PARK6-linked parkinsonism: an 18F-dopa PET study". Ann. Neurol. 52 (6): 849–53. doi:10.1002/ana.10417. PMID 12447943.
- Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.
- Bonifati V, Dekker MC, Vanacore N; et al. (2003). "Autosomal recessive early onset parkinsonism is linked to three loci: PARK2, PARK6, and PARK7". Neurol. Sci. 23 Suppl 2: S59–60. doi:10.1007/s100720200069. PMID 12548343.
- Valente EM, Brancati F, Caputo V; et al. (2003). "PARK6 is a common cause of familial parkinsonism". Neurol. Sci. 23 Suppl 2: S117–8. doi:10.1007/s100720200097. PMID 12548371.
- Nakajima A, Kataoka K, Hong M; et al. (2004). "BRPK, a novel protein kinase showing increased expression in mouse cancer cell lines with higher metastatic potential". Cancer Lett. 201 (2): 195–201. PMID 14607334.
- Ota T, Suzuki Y, Nishikawa T; et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
- Valente EM, Abou-Sleiman PM, Caputo V; et al. (2004). "Hereditary early-onset Parkinson's disease caused by mutations in PINK1". Science. 304 (5674): 1158–60. doi:10.1126/science.1096284. PMID 15087508.
- Healy DG, Abou-Sleiman PM, Ahmadi KR; et al. (2004). "The gene responsible for PARK6 Parkinson's disease, PINK1, does not influence common forms of parkinsonism". Ann. Neurol. 56 (3): 329–35. doi:10.1002/ana.20206. PMID 15349859.
- Valente EM, Salvi S, Ialongo T; et al. (2004). "PINK1 mutations are associated with sporadic early-onset parkinsonism". Ann. Neurol. 56 (3): 336–41. doi:10.1002/ana.20256. PMID 15349860.
- Hatano Y, Li Y, Sato K; et al. (2004). "Novel PINK1 mutations in early-onset parkinsonism". Ann. Neurol. 56 (3): 424–7. doi:10.1002/ana.20251. PMID 15349870.
- Gerhard DS, Wagner L, Feingold EA; et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.
- Hatano Y, Sato K, Elibol B; et al. (2006). "PARK6-linked autosomal recessive early-onset parkinsonism in Asian populations". Neurology. 63 (8): 1482–5. PMID 15505170.
- Healy DG, Abou-Sleiman PM, Gibson JM; et al. (2006). "PINK1 (PARK6) associated Parkinson disease in Ireland". Neurology. 63 (8): 1486–8. PMID 15505171.
- Rogaeva E, Johnson J, Lang AE; et al. (2005). "Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease". Arch. Neurol. 61 (12): 1898–904. doi:10.1001/archneur.61.12.1898. PMID 15596610.
- Beilina A, Van Der Brug M, Ahmad R; et al. (2005). "Mutations in PTEN-induced putative kinase 1 associated with recessive parkinsonism have differential effects on protein stability". Proc. Natl. Acad. Sci. U.S.A. 102 (16): 5703–8. doi:10.1073/pnas.0500617102. PMID 15824318.
- Deng H, Le WD, Zhang X; et al. (2005). "G309D and W437OPA PINK1 mutations in Caucasian Parkinson's disease patients". Acta Neurol. Scand. 111 (6): 351–2. doi:10.1111/j.1600-0404.2005.00383.x. PMID 15876334.
- Li Y, Tomiyama H, Sato K; et al. (2005). "Clinicogenetic study of PINK1 mutations in autosomal recessive early-onset parkinsonism". Neurology. 64 (11): 1955–7. doi:10.1212/01.WNL.0000164009.36740.4E. PMID 15955953.