References
- SeitelbergerFNeuroaxonal dystrophy: Its relation to aging and neurological diseasesVinkePJBruynGWKlawansHLHandbook of clinical neurology, Extrapiramidal Disorders1986vol 549AmsterdamElsevier Science391415
- AicardiJCasteleinPInfantile neuroaxonal dystrophyBrain1979102727748doi: http://dx.doi.org/10.1093/brain/102.4.727509195
- JellingerKNeuroaxonal dystrophy: Its natural history and related disordersProg Neuropathol19732129180doi: http://dx.doi.org/10.1007/978-3-642-47449-1_2
- NardocciNZorziGFarinaLet alInfantile neuroaxonal dystrophy: Clinical spectrum and diagnostic criteriaNeurology19795214721478doi: http://dx.doi.org/10.1212/WNL.52.7.147210227637
- MorganNVWestawaySKMortonJEet alPLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain ironNat Genet200638752754doi: http://dx.doi.org/10.1038/ng182616783378
- KhateebSFlusserHOfirRet alPLA2G6 mutation underlies infantile neuroaxonal dystrophyAm J Hum Genet20067994294817033970
- KurianMAMorganNVMacPhersonLet alPhenotypic spectrum of neurodegeneration associated with mutations in the PLA2G6 gene (PLAN)Neurology20087016231629doi: http://dx.doi.org/10.1212/01.wnl.0000310986.48286.8e18443314
- Paisán-RuizCBhatiaKPLiAet alCharacterization of PLA2G6 as a locus for dystonia-parkinsonismAnn Neurol2009651923doi: http://dx.doi.org/10.1002/ana.2141518570303
- SinaFShojaeeSElahiEPaisan-RuizCR632W mutation in PLA2G6 segregates with dystonia-parkinsonism in a consanguineous Iranian familyEur J Neurol200916101104doi: http://dx.doi.org/10.1111/j.1468-1331.2008.02356.x19087156
- BowerMABusharaKDempseyMADasSTuitePJNovel mutations in siblings with later-onset PLA2G6-associated neurodegeneration (PLAN)Mov Disord20112617681769doi: http://dx.doi.org/10.1002/mds.2361721520282
- YoshinoHTomiyamaHTachibanaNet alPhenotypic spectrum of patients with PLA2G6 mutation and PARK14-linked parkinsonismNeurology20107513561361doi: http://dx.doi.org/10.1212/WNL.0b013e3181f7364920938027
- ShiB-hTngB-sWangLet alPLA2G6 mutation in autosomal recessive early-onset parkinsonism in a Chinese cohortNeurology201177175181doi: http://dx.doi.org/10.1212/WNL.0b013e318221acd3
- VirmaniTThenganattMAGoldmanJSKubischCGreenePEAlcalayRNOculogyric crisis induced by levodopa in PLA2G6 parkinsonism-dystoniaParkinsonism Relat Disord201420245247doi: http://dx.doi.org/10.1016/j.parkreldis.2013.10.01624182522
- AgarwalPHogarthPHayflickSet alImaging striatal function in Phosphpolipase A2 Group IV-related parkinsonismMove Disord20122716981699doi: http://dx.doi.org/10.1002/mds.25160
- LuCSLaiSCWuRMet alPLA2G6 mutations in PARK14-linked young-onset parkinsonism and sporadic Parkinson’s diseaseAm J Med Genet B Neuropsychiatr Genet2012159B183191doi: http://dx.doi.org/10.1002/ajmg.b.3201222213678
- KimYJLyooCHHongSKimNYLeeMSNeuroimaging studies and whole exom sequencing of PLA2G6-associated neurodegeneration in a family with intrafamilial phenotype heterogeneityParkinsonism Relat Disord2015doi: http://dx.doi.org/10.1016/j.parkreldis.2015.01.010
- MalagutiMCMelziVDi GiacopoRet alA novel homozygous PLA2G6 mutation causes dystonia-parkinsonismParkinsonism Relat Disord201521337339doi: http://dx.doi.org/10.1016/j.parkreldis.2015.01.00125601130
- XieFCenZOuyangZWuSXiaoJLuoWHomozygous 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 Disord2015
- Paisan-RuizCGuevaraRFederoffMet alEarly-onset L-dopa responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutationsMove Disord20102517911800doi: http://dx.doi.org/10.1002/mds.23221
- IllingworthMAMeyerEChongWKet alPLA2G6-associated neurodegeneration (PLAN): Further expansion of the clinical, radiological and mutation spectrum associated with infantile and atypical childhood-onset diseaseMol Genet Metab2014112183189doi: http://dx.doi.org/10.1016/j.ymgme.2014.03.00824745848
- Paisán-RuizCLiASchneiderSAet alWidespread Lewy body and tau accumulation in childhood and adult onset dystonia-parkinsonism cases with PLA2G6 mutationsNeurobiol Aging201233814823doi: http://dx.doi.org/10.1016/j.neurobiolaging.2010.05.00920619503
- BraakHDel TrediciKRubUde VosRAJansen SteurENBraakEStaging of brain pathology related to sporadic Parkinson’s diseaseNeurobiol Aging20032419721112498954
- KurianMAHayflickSJPanthothenate kinase-associated neurodegeneration (PKAN) and PLA2G6-associated neurodegeneration (PLAN): Review of two major neurodegeneration with brain iron accumulation (NBIA) phenotypesInt Rev Neurobiol20131104971doi: http://dx.doi.org/10.1016/B978-0-12-410502-7.00003-X24209433
- BalsindeJBalboa MACellular regulation and proposed biological functions of group VIA calcium-independent phospholipase A2 in activated cellsCell Signal2005171052106215993747
- BeckGSugiuraYShinzawaKet alNeuroaxonal dystrophy in calcium-independent phospholipase A2β deficiency results from insufficient remodeling and degeneration of mitochondrial and presynaptic membranesJ Neurisci2011311141111420doi: http://dx.doi.org/10.1523/JNEUROSCI.0345-11.2011
- ClaypoolSMKoehlerCMThe complexity of cardiolipin in health and diseaseTrends Biochem Sci2012373241doi: http://dx.doi.org/10.1016/j.tibs.2011.09.00322014644
- ZachmanDKChiccoAJMcCuneSAMurphyRCMooreRLSparagnaGCThe role of calcium-independent phospholipase A2 in cardiolipin remodeling in the spontaneously hypertensive heart failure rat heartJ Lipid Res201051525534doi: http://dx.doi.org/10.1194/jlr.M00064619741254
- RouaultTAIron metabolism in the CNS: Implications for neurodegenerative diseasesNat Rev Neurosci201314551564doi: http://dx.doi.org/10.1038/nrn345323820773
- StrokinMSeburnKLCoxGAMartensKAReiserGSevere disturbance in the Ca2+ signaling in astrocytes from mouse models of human infantile neuraxonal dystrophy with mutated Pla2g6Hum Mol Gen20122128072814doi: http://dx.doi.org/10.1093/hmg/dds10822442204
- SchapiraAHVCooperJMDexterDJennerPClarkJBMarsdenCDMitochondrial complex I deficiency in Parkinson’s diseaseLancet1989112692566813
- LuthESStavrovskayaIGBartelsTKristalBSSelkoeDJSoluble, prefibrillar α-synuclein oligomers promote complex I-dependent, Ca2+-induced mitochondrial dysfunctionJ Biol Chem20142892149021507doi: http://dx.doi.org/10.1074/jbc.M113.54574924942732
- MelachroinouKXilouriMEmmanouilidouEet alDeregulation of calcium homeostasis mediated secreted α-synuclein-induced neurotoxicityNeurobiol Aging20133428532865doi: http://dx.doi.org/10.1016/j.neurobiolaging.2013.06.00623891486
- EngelLAJingZO’BrienDESunMKotzbauerPTCatalytic function of PLA2G6 is impaired by mutations associated with infantile neuraxonal dystrophy but not dystonia-parkinsonismPLoS ONE20105(9)e12897doi: http://dx.doi.org/10.1371/journal.pone.001289720886109