References
- 1KhateebSFlusserHOfirRPLA2G6 mutation underlies infantile neuroaxonal dystrophyAm J Hum Genet200679942948doi: 10.1086/50857217033970
- 2MorganNVWestawaySKMortonJEVPLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron.Nat Genet20063875275416783378
- 3Paisan-RuizCBhatiaKPLiACharacterization of PLA2G6 as a locus for dystonia-parkinsonismAnn Neurol2009651923doi: 10.1002/ana.2141518570303
- 04ShiCHTangBSWangLPLA2G6 gene mutation in autosomal recessive early-onset parkinsonism in a Chinese cohortNeurology2011777581doi: 10.1212/WNL.0b013e318221acd321700586
- 05XieFCenZOuyangZWuSXiaoJLuoWHomozygous p.D331Y mutation in PLA2G6 in two patients with pure autosomal-recessive early-onset parkinsonism: further evidence of a fourth phenotype of PLA2G6-associated neurodegenerationParkinsonism Relat Disord201521420422doi: 10.1016/j.parkreldis.2015.01.01225660576
- 06SinaFShojaeeSElahiEPaisan-RuizCR632W mutation in PLA2G6 segregates with dystonia-parkinsonism in a consanguineous Iranian familyEur J Neurol200916101104doi: 10.1111/j.1468-1331.2008.02356.x19087156
- 07AlkanCKavakPSomelMWhole genome sequencing of Turkish genomes reveals functional private alleles and impact of genetic interactions with Europe, Asia and AfricaBMC Genomics201415963doi: 10.1186/1471-2164-15-96325376095
- 08KumarPHenikoffSNgPCPredicting the effects of coding non-synonymous variants on protein function using the SIFT algorithmNat Protocols2009410731081doi: 10.1038/nprot.2009.8619561590
- 09KircherMWittenDMJainPO’RoakBJCooperGMShendureJA general framework for estimating the relative pathogenicity of human genetic variantsNat Genet201446310315doi: 10.1038/ng.289224487276
- 10AdzhubeiIASchmidtSPeshkinLA method and server for predicting damaging missense mutationsNat Methods20107248249doi: 10.1038/nmeth0410-24820354512
- 11LiMXKwanJSBaoSYPredicting mendelian disease-causing non-synonymous single nucleotide variants in exome sequencing studiesPLoS Genet20139e1003143doi: 10.1371/journal.pgen.100314323341771
- 12KinghornKJCastillo-QuanJIBartolomeFLoss of PLA2G6 leads to elevated mitochondrial lipid peroxidation and mitochondrial dysfunctionBrain2015138(Pt 7)18011816doi: 10.1093/brain/awv13226001724
- 13KobeBKajavaAVThe leucine-rich repeat as a protein recognition motif.Curr Opin Struct Biol20011172573211751054
- 14TacikPFieselFCFujiokaSThree families with Perry syndrome from distinct parts of the worldParkinsonism Relat Disord201420884888doi: 10.1016/j.parkreldis.2014.05.00424881494
- 15KarkheiranSShahidiGAWalkerRHPaisan-RuizCPLA2G6-associated dystonia-parkinsonism: case report and literature reviewTremor Other Hyperkinet Mov (NY)20155317doi: 10.7916/D84Q7T4W