2010
Two closely related endocytic proteins that share a common OCRL-binding motif with APPL1
Swan LE, Tomasini L, Pirruccello M, Lunardi J, De Camilli P. Two closely related endocytic proteins that share a common OCRL-binding motif with APPL1. Proceedings Of The National Academy Of Sciences Of The United States Of America 2010, 107: 3511-3516. PMID: 20133602, PMCID: PMC2840420, DOI: 10.1073/pnas.0914658107.Peer-Reviewed Original Research
2008
All known patient mutations in the ASH-RhoGAP domains of OCRL affect targeting and APPL1 binding
McCrea HJ, Paradise S, Tomasini L, Addis M, Melis MA, De Matteis MA, De Camilli P. All known patient mutations in the ASH-RhoGAP domains of OCRL affect targeting and APPL1 binding. Biochemical And Biophysical Research Communications 2008, 369: 493-499. PMID: 18307981, PMCID: PMC2442618, DOI: 10.1016/j.bbrc.2008.02.067.Peer-Reviewed Original ResearchConceptsDisease-causing missense mutationsSpecific cellular sitesActive Rab5Endocytic pathwayProtein networkOCRLPatient mutationsAPPL1Missense mutationsLowe syndromeCellular sitesDisease phenotypeRab5Renal Fanconi syndromeMutationsDent's diseaseEndosomesDomainProteinBilateral cataractsNeonatal hypotoniaReabsorption defectFanconi syndromePhenotypeInositol