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Behne R, Teinert J, Wimmer M, D’Amore A, Davies AK, Scarrott JM, Eberhardt K, Brechmann B, Chen IP, Buttermore ED, Barrett L, Dwyer S, Chen T, Hirst J, Wiesener A, Segal D, Martinuzzi A, Duarte ST, Bennett JT, Bourinaris T, Houlden H, Roubertie A, Santorelli FM, Robinson M, Azzouz M, Lipton JO, Borner GHH, Sahin M, Ebrahimi-Fakhari D. Adaptor protein complex 4 deficiency: a paradigm of childhood-onset hereditary spastic paraplegia caused by defective protein trafficking. Hum Mol Genet. 2020 Jan 15;29(2):320-334. doi: 10.1093/hmg/ddz310. PMID: 31915823; PMCID: PMC7001721. D’Amore A, Tessa A, Naef V, Bassi MT, Citterio A, Romaniello R, Fichi G, Galatolo D, Mero S, Battini R, Bertocci G, Baldacci J, Sicca F, Gemignani F, Ricca I, Rubegni A, Hirst J, Marchese M, Sahin M, Ebrahimi-Fakhari D, Santorelli FM. Loss of ap4s1 in zebrafish leads to neurodevelopmental defects resembling spastic paraplegia 52. Ann Clin Transl Neurol. 2020 Apr;7(4):584-589. doi: 10.1002/acn3.51018. Epub 2020 Mar 25. PMID: 32216065; PMCID: PMC7187712.
