Citations for
A novel mutation in SPART gene causes a severe neurodevelopmental delay due to mitochondrial dysfunction with complex I impairments and altered pyruvate metabolism.
Diquigiovanni C, Bergamini C, Diaz R, Liparulo I, Bianco F, Masin L, Baldassarro VA, Rizzardi N, Tranchina A, Buscherini F, Wischmeijer A, Pippucci T, Scarano E, Cordelli DM, Fato R, Seri M, Paracchini S, Bonora E.
FASEB J 33(10):11284-11302. doi: 10.1096/fj.201802722R. Epub 2019 Aug 7. 2019
Novel SPG20 mutation in an extended family with Troyer syndrome.
Bizzari S, Hamzeh AR, Nair P, Mohamed M, Saif F, Aithala G, Al-Ali MT, Bastaki F.
Metab Brain Dis 32(6):2155-2159. doi: 10.1007/s11011-017-0104-3. Epub 2017 Sep 5. 2017
Distinct mechanisms of recognizing endosomal sorting complex required for transport III (ESCRT-III) protein IST1 by different microtubule interacting and trafficking (MIT) domains.
Guo EZ, Xu Z.
J Biol Chem 290(13):8396-408. doi: 10.1074/jbc.M114.607903. Epub 2015 Feb 5. 2015
Recurrent null mutation in SPG20 leads to Troyer syndrome.
Tawamie H, Wohlleber E, Uebe S, Schmäl C, Nöthen MM, Abou Jamra R.
Mol Cell Probes 29(5):315-8. doi: 10.1016/j.mcp.2015.05.006. Epub 2015 May 20. 2015
Different expression levels of spartin cause broad spectrum of cellular consequences in human neuroblastoma cells.
Milewska M, Byrne PC.
Cell Biol Int 39(9):1007-15. doi: 10.1002/cbin.10472. Epub 2015 May 8. 2015
Spartin Regulates Synaptic Growth and Neuronal Survival by Inhibiting BMP-Mediated Microtubule Stabilization.
Nahm M, Lee MJ, Parkinson W, Lee M, Kim H, Kim YJ, Kim S, Cho YS, Min BM, Bae YC, Broadie K, Lee S.
Neuron. 77(4):680-95. 2013
Hereditary Spastic Paraplegia Protein Spartin Is an FK506-Binding Protein Identified by mRNA Display.
Tokunaga M, Shiheido H, Hayakawa I, Utsumi A, Takashima H, Doi N, Horisawa K, Sakuma-Yonemura Y, Tabata N, Yanagawa H.
Chem Biol. 20(7):935-42. 2013
8AHDS, SPART, SPG1, SPG10, SPG11, SPG12, SPG13, SPG14, SPG15, SPG16, SPG17, SPG19, SPG2, SPG21, SPG23, SPG24, SPG25, SPG26, SPG27, SPG28, SPG29, SPG30, SPG31, SPG32, SPG33, SPG35, SPG36, SPG37, SPG38, SPG39, SPG41, SPG41, SPG42, SPG43, SPG44, SPG45, SPG46, SPG47, SPG48, SPG49, SPG50, SPG51, SPG52, SPG53, SPG54, SPG55, SPG56
Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms.
Fink JK.
Acta Neuropathol 126(3):307-28. doi: 10.1007/s00401-013-1115-8. Epub 2013 Jul 30. 2013
SPG20, a novel biomarker for early detection of colorectal cancer, encodes a regulator of cytokinesis.
Lind GE, Raiborg C, Danielsen SA, Rognum TO, Thiis-Evensen E, Hoff G, Nesbakken A, Stenmark H, Lothe RA.
Oncogene 30(37):3967-78. doi: 10.1038/onc.2011.109. Epub 2011 Apr 18. 2011
SPG20 protein spartin associates with cardiolipin via its plant-related senescence domain and regulates mitochondrial Ca2+ homeostasis.
Joshi DC, Bakowska JC.
PLoS One 6(4):e19290. doi: 10.1371/journal.pone.0019290. 2011
SPG20 protein spartin is recruited to midbodies by ESCRT-III protein Ist1 and participates in cytokinesis.
Renvoisé B, Parker RL, Yang D, Bakowska JC, Hurley JH, Blackstone C.
Mol Biol Cell 21(19):3293-303. doi: 10.1091/mbc.E09-10-0879. Epub 2010 Aug 18. 2010
The hereditary spastic paraplegia proteins NIPA1, spastin and spartin are inhibitors of mammalian BMP signalling.
Tsang HT, Edwards TL, Wang X, Connell JW, Davies RJ, Durrington HJ, O'Kane CJ, Luzio JP, Reid E.
Hum Mol Genet 18(20):3805-21. Epub 2009 Jul 20.PMID: 19620182 2009
Endogenous spartin (SPG20) is recruited to endosomes and lipid droplets and interacts with the ubiquitin E3 ligases AIP4 and AIP5.
Edwards TL, Clowes VE, Tsang HT, Connell JW, Sanderson CM, Luzio JP, Reid E.
Biochem J 423(1):31-9. Erratum in: Biochem J. 2009 Nov 1;423(3):442. PMID: 19580544 2009
Identification of novel spartin-interactors shows spartin is a multifunctional protein.
Milewska M, McRedmond J, Byrne PC.
J Neurochem 111(4):1022-30. Epub 2009 Sep 16.PMID: 19765186 2009
A role for ubiquitin ligases and Spartin/SPG20 in lipid droplet turnover.
Eastman SW, Yassaee M, Bieniasz PD.
J Cell Biol 184(6):881-94.PMID: 19307600 2009
Endogenous spartin (SPG20) is recruited to endosomes and lipid droplets and interacts with the ubiquitin E3 ligases AIP4 and AIP5.
Edwards TL, Clowes VE, Tsang HT, Connell JW, Sanderson CM, Luzio JP, Reid E.
Biochem J. 423(1):31-9. 2009
Lack of spartin protein in Troyer syndrome: a loss-of-function disease mechanism?
Bakowska JC, Wang H, Xin B, Sumner CJ, Blackstone C.
Arch Neurol 65(4):520-4.PMID: 18413476 2008
Troyer syndrome protein spartin is mono-ubiquitinated and functions in EGF receptor trafficking.
Bakowska JC, Jupille H, Fatheddin P, Puertollano R, Blackstone C.
Mol Biol Cell 18(5):1683-92. Epub 2007 Mar 1. 2007
The hereditary spastic paraplegia protein spartin localises to mitochondria.
Lu J, Rashid F, Byrne PC.
J Neurochem 98(6):1908-19. 2006
The Troyer syndrome (SPG20) protein spartin interacts with Eps15.
Bakowska JC, Jenkins R, Pendleton J, Blackstone C.
Biochem Biophys Res Commun 334(4):1042-8. 2005
The identification of a conserved domain in both spartin and spastin, mutated in hereditary spastic paraplegia.
Ciccarelli FD, Proukakis C, Patel H, Cross H, Azam S, Patton MA, Bork P, Crosby AH.
Genomics 81(4):437-41. 2003
SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia.
Patel H, Cross H, Proukakis C, Hershberger R, Bork P, Ciccarelli FD, Patton MA, McKusick VA, Crosby AH.
Nat Genet 31(4):347-8. 2002