References
- 1DanekAeditorNeuroacanthocytosis syndromesBerlinSpringer-Verlag2005
- 2WalkerRHSaikiSDanekANeuroacanthocytosis Syndromes IIBerlin HeidelbergSpringer-Verlag2008
- 3WalkerRHUntangling the thorns: advances in neuroacanthocytosis syndromesJ Mov Disord201584154doi: 10.14802/jmd.1500926090076
- 4Velayos-BaezaAVettoriACopleyRRDobson-StoneCMonacoAPAnalysis of the human VPS13 gene familyGenomics200484536549doi: 10.1016/j.ygeno.2004.04.01215498460
- 5ParkJSThorsnessMKPolicastroRet alYeast Vps13 promotes mitochondrial function and is localized at membrane contact sitesMol Biol Cell20162724352449doi: 10.1091/mbc.E16-02-011227280386
- 6BaderBDobson-StoneCVelayos-BaezaAMonacoAPDanekAThe genotype and phenotype of chorea acanthocytosisEur J Neurol20081516doi: 10.1111/j.1468-1331.2007.02031.x18005055
- 7Dobson-StoneCDanekARampoldiLet alMutational spectrum of the CHAC gene in patients with chorea-acanthocytosisEur J Hum Genet200210773781doi: 10.1038/sj.ejhg.520086612404112
- 8Dobson-StoneCVelayos-BaezaAFilipponeLAet alChorein detection for the diagnosis of chorea-acanthocytosisAnn Neurol200456299302doi: 10.1002/ana.2020015293285
- 9RampoldiLDobson-StoneCRubioJPet alA conserved sorting-associated protein is mutant in chorea-acanthocytosisNat Genet200128119120doi: 10.1038/8882111381253
- 10TomiyasuANakamuraMIchibaMet alNovel pathogenic mutations and copy number variations in the VPS13A gene in patients with chorea-acanthocytosisAm J Med Genet B Neuropsychiatr Genet2011156B620631doi: 10.1002/ajmg.b.3120621598378
- 11SamaranayakeHSCowanAEKlobutcherLAVacuolar protein sorting protein 13A, TtVPS13A, localizes to the tetrahymena thermophila phagosome membrane and is required for efficient phagocytosisEukaryot Cell20111012071218doi: 10.1128/EC.05089-1121764909
- 12Muñoz-BracerasSCalvoREscalanteRTipC and the chorea-acanthocytosis protein VPS13A regulate autophagy in Dictyostelium and human HeLa cellsAutophagy201511918927doi: 10.1080/15548627.2015.103441325996471
- 13TomemoriYIchibaMKusumotoAet alA gene-targeted mouse model for chorea-acanthocytosisJ Neurochem200592759766doi: 10.1111/j.1471-4159.2004.02924.x15686477
- 14KuranoYNakamuraMIchibaMet alChorein deficiency leads to upregulation of gephyrin and GABA(A) receptorBiochem Biophys Res Commun2006351438442doi: 10.1016/j.bbrc.2006.10.07017070500
- 15De FranceschiLTomelleriCBovee-GeurtsPHet alChorea-acanthocytosis related changes in erythrocyte membrane composition are associated with abnormal Lyn kinase activity independent from Syk sequential phosphorylationBlood201111856525663doi: 10.1182/blood-2011-05-35533921951684
- 16ProhaskaPSibonOCMRudnickiDDet alBrain, blood, and iron: perspectives on the roles of erythrocytes and iron in neurodegenerationNeurobiol Dis201246607624doi: 10.1016/j.nbd.2012.03.00622426390
- 17LesageSDrouetVMajounieEet alLoss of VPS13C function in autosomal-recessive parkinsonism causes mitochondrial dysfunction and increases PINK1/parkin-dependent mitophagyAm J Hum Genet201698500513doi: 10.1016/j.ajhg.2016.01.01426942284
- 18LangABJohn PeterATWalterPKornmannBER-mitochondrial junctions can be bypassed by dominant mutations in the endosomal protein Vps13J Cell Biol2015210883890doi: 10.1083/jcb.20150210526370498
- 19DeMOleskieANAyyashMet alThe Vps13p-Cdc31p complex is directly required for TGN late endosome transport and TGN homotypic fusionJ Cell Biol2017216425439doi: 10.1083/jcb.20160607828122955
- 20VonkJJYeshawWMPintoFet alDrosphila Vps13 is required for protein homeostasis in the brainPLoS One201712e0170106doi: 10.1371/journal.pone.017010628107480
