| 1 | SPG11, ZFYVE26
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| Spatacsin and spastizin act in the same pathway required for proper spinal motor neuron axon outgrowth in zebrafish.
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| Martin E, Yanicostas C, Rastetter A, Naini SM, Maouedj A, Kabashi E, Rivaud-Péchoux S, Brice A, Stevanin G, Soussi-Yanicostas N.
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| Neurobiol Dis. 48(3):299-308. 2012
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| 2 | SPG15, ZFYVE26
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| Atypical juvenile parkinsonism in a consanguineous SPG15 family.
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| Schicks J, Synofzik M, Pétursson H, Huttenlocher J, Reimold M, Schöls L, Bauer P.
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| Mov Disord. 2011
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| 3 | KIF13A, TTC19, ZFYVE26
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| PtdIns(3)P controls cytokinesis through KIF13A-mediated recruitment of FYVE-CENT to the midbody.
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| Sagona AP, Nezis IP, Pedersen NM, Liestøl K, Poulton J, Rusten TE, Skotheim RI, Raiborg C, Stenmark H.
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| Nat Cell Biol 12(4):362-71. Epub 2010 Mar 7.
2010
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| 4 | KIAA0415, SPG11, SPG15, SPG48, ZFYVE26
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| A genome-scale DNA repair RNAi screen identifies SPG48 as a novel gene associated with hereditary spastic paraplegia.
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| Słabicki M, Theis M, Krastev DB, Samsonov S, Mundwiller E, Junqueira M, Paszkowski-Rogacz M, Teyra J, Heninger AK, Poser I, Prieur F, Truchetto J, Confavreux C, Marelli C, Durr A, Camdessanche JP, Brice A, Shevchenko A, Pisabarro MT, Stevanin G, Buchholz F.
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| PLoS Biol. 8(6):e1000408. 2010
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| 5 | SPG15, ZFYVE26
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| SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum.
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| Goizet C, Boukhris A, Maltete D, Guyant-Maréchal L, Truchetto J, Mundwiller E, Hanein S, Jonveaux P, Roelens F, Loureiro J, Godet E, Forlani S, Melki J, Auer-Grumbach M, Fernandez JC, Martin-Hardy P, Sibon I, Sole G, Orignac I, Mhiri C, Coutinho P, Durr A, Brice A, Stevanin G.
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| Neurology 73(14):1111-9. 2009
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| 6 | SPG15, ZFYVE26
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| Tunisian hereditary spastic paraplegias: clinical variability supported by genetic heterogeneity.
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| Boukhris A, Stevanin G, Feki I, Denora P, Elleuch N, Miladi MI, Goizet C, Truchetto J, Belal S, Brice A, Mhiri C.
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| Clin Genet. 75(6):527-36 2009
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| 7 | NIPA1, SPAST, SPG20, SPG21, ZFYVE26
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| The hereditary spastic paraplegia proteins NIPA1, spastin and spartin are inhibitors of mammalian BMP signalling.
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| Tsang HT, Edwards TL, Wang X, Connell JW, Davies RJ, Durrington HJ, O'Kane CJ, Luzio JP, Reid E.
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| Hum Mol Genet 18(20):3805-21. Epub 2009 Jul 20.PMID: 19620182 2009
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| 8 | SPG15, ZFYVE26
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| Spastic paraplegia with thinning of the corpus callosum and white matter abnormalities: further mutations and relative frequency in ZFYVE26/SPG15 in the Italian population.
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| Denora PS, Muglia M, Casali C, Truchetto J, Silvestri G, Messina D, Boukrhis A, Magariello A, Modoni A, Masciullo M, Malandrini A, Morelli M, de Leva MF, Villanova M, Giugni E, Citrigno L, Rizza T, Federico A, Pierallini A, Quattrone A, Filla A, Brice A, Stevanin G, Santorelli FM.
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| J Neurol Sci. 2008
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| 9 | SPG15, ZFYVE26
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| Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome.
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| Hanein S, Martin E, Boukhris A, Byrne P, Goizet C, Hamri A, Benomar A, Lossos A, Denora P, Fernandez J, Elleuch N, Forlani S, Durr A, Feki I, Hutchinson M, Santorelli FM, Mhiri C, Brice A, Stevanin G.
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| Am J Hum Genet. Apr;82(4):992-1002. 2008
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| 10 | ADAMTS3, AKAP6, ALMS1, ANKRD28, ARHGEF10, ARHGEF11, ARHGEF17, ARNT2, BAZ2A, CABIN1, CAST, CHD9, CIC, CLEC16A, CLOCK, CTNND1, DCLK1, DDX46, DIDO1, DNAH9, DNM3, DOCK3, DYNC1H1, ECM29, ENTPD4, EPB41L1, EZH1, FAM65B, FRMPD4, GCC2, HECW1, HERC2, HISPPD1, HUWE1, IGSF1, KAT6B, KIAA0317, KIAA0319, KIAA0323, KIAA0355, KIAA0379, KIAA0391, KIF3B, LBA1, MADD, MAST4, MCF2L, MDN1, MLL4, MTMR3, MYO6, N4BP3, NACAD, NRCAM, PCDH9, PCDHGA8, PCDHGC3, PDZD2, PER2, PFAS, PLEKHM1, PLXNB2, PRUNE2, PTPRN2, RAPGEF2, RIMBP2, RIMS1, RUSC2, SALL2, SEC16A, SEMA3C, SEMA3E, SETD1A, SFRS14, SNPH, SPECC1L, SPTBN2, SR140, SRCAP, SRRM2, SYNJ2, TECPR2, TLN2, TRIM66, TTC37, UBR2, WNK1, XPO6, ZBTB39, ZBTB5, ZFYVE16, ZFYVE26, ZMYM3, ZNF518A, ZNF609, ZNF629, ZNF646
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| Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.
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| Nagase T, Ishikawa K, Nakajima D, Ohira M, Seki N, Miyajima N, Tanaka A,Kotani H, Nomura N, Ohara O.
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| DNA Res 4(2):141-50. 1997
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