2000 Jul;25(3):302-5. Nat Rev Neurosci. Antioxid Redox Signal. PARK2, which encodes Parkin, is a disease-causing gene for both neurodegenerative disorders and cancer. Epub 2009 Nov 29. von Coelln R, Dawson VL, Dawson TM. Epub 2006 Sep 14. Review. Narendra DP, Youle RJ.
Genes Chromosomes Cancer. PARK2 gene mutations were found also in some general Parkinson disease patients. 2011 May 15;14(10):1929-38. doi: 10.1089/ars.2010.3799.
2004 Feb 12;427(6975):636-40. Picchio MC, Martin ES, Cesari R, Calin GA, Yendamuri S, Kuroki T, Pentimalli F, Sarti M, Yoder K, Kaiser LR, Fishel R, Croce CM.
2006 Dec;18(6):404-10. Expanding insights of mitochondrial dysfunction in Parkinson's disease. Schurr E, Alcaïs A, de Léséleuc L, Abel L. Genetic predisposition to leprosy: A major gene reveals novel pathways of immunity to Mycobacterium leprae. 2010;25 Suppl 1:S32-9. Mov Disord. In autosomal recessive juvenile parkinsonism, mutation in the PARK2 gene is linked to death of dopaminergic neurons. Users with questions about a personal health condition should consult with a Abou-Sleiman PM, Muqit MM, Wood NW. (2004) showed both in vitro and in vivo that nitrosative stress leads to S-nitrosylation of wildtype parkin and, initially, to a dramatic increase followed by a decrease in the E3 ligase-ubiquitin-proteasome degradative pathway. Autonomic nervous system dysfunction is less pronounced in PARK2 mutation carriers than in individuals with idiopathic Parkinson's Disease. Shimura H, Hattori N, Kubo Si, Mizuno Y, Asakawa S, Minoshima S, Shimizu N, Iwai K, Chiba T, Tanaka K, Suzuki T. Familial Parkinson disease gene product, parkin, is a ubiquitin-protein ligase. The resulting amino acid change, p.Arg275Trp, is located in the highly con … Semin Immunol. This form of genetic mutation may be one of the most common known genetic causes of early-onset Parkinson disease. The majority (63%) of mutations in PARK2 were restricted to two particular domains (UBL and RING1) of the Parkin protein. Veeriah S, Taylor BS, Meng S, Fang F, Yilmaz E, Vivanco I, Janakiraman M, Schultz N, Hanrahan AJ, Pao W, Ladanyi M, Sander C, Heguy A, Holland EC, Paty PB, Mischel PS, Liau L, Cloughesy TF, Mellinghoff IK, Solit DB, Chan TA. Clin Cancer Res. Parkin may act as a tumor suppressor protein, which means it prevents cells from growing and dividing too rapidly or in an uncontrolled way. (Homo sapiens Updated Annotation Release 109.20200522, GRCh38.p13) ( Synaptic vesicles contain chemical messengers that transmit signals from one nerve cell to another.Genetics Home Reference provides information about leprosy.Genetics Home Reference provides information about lung cancer.Genetics Home Reference provides information about ovarian cancer.Studies suggest that common variations (polymorphisms) in the Molecular Location: base pairs 161,347,417 to 162,727,802 on chromosome 6 The resources on this site should not be used as a substitute for professional medical care or advice. Parkin may also regulate the supply and release of sacs called synaptic vesicles from nerve cells.
Nat Genet.
Methods: The participants comprised patients with early-onset PD (EOPD) and healthy controls (HC). 2003 Nov 13;22(51):8370-8. Yao et al. Review. 2003 Sep;38(1):40-52.
Epub 2011 Mar 3. Review. Epub 2004 Jul 30. Review. Pramstaller PP, Schlossmacher MG, Jacques TS, Scaravilli F, Eskelson C, Pepivani I, Hedrich K, Adel S, Gonzales-McNeal M, Hilker R, Kramer PL, Klein C. Lewy body Parkinson's disease in a large pedigree with 77 Parkin mutation carriers. Here, we show that c.823C>T (p.Arg275Trp), a germline mutation in PARK2, is present in a family with eight cases of lung cancer. Oncogene. Ann Neurol. 2010 Jan;42(1):77-82. doi: 10.1038/ng.491. The PRKN gene spans part of a region on chromosome 6 known as FRA6E.