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Items: 14


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. 2017 Dec;32(6):2155-2159. doi: 10.1007/s11011-017-0104-3. Epub 2017 Sep 5.


SPG20 mutation in three siblings with familial hereditary spastic paraplegia.

Dardour L, Roelens F, Race V, Souche E, Holvoet M, Devriendt K.

Cold Spring Harb Mol Case Stud. 2017 Jul 5;3(4). pii: a001537. doi: 10.1101/mcs.a001537. Print 2017 Jul.


Three cases of Troyer syndrome in two families of Filipino descent.

Butler S, Helbig KL, Alcaraz W, Seaver LH, Hsieh DT, Rohena L.

Am J Med Genet A. 2016 Jul;170(7):1780-5. doi: 10.1002/ajmg.a.37658. Epub 2016 Apr 26.


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. 2015 Oct;29(5):315-8. doi: 10.1016/j.mcp.2015.05.006. Epub 2015 May 20.


Different expression levels of spartin cause broad spectrum of cellular consequences in human neuroblastoma cells.

Milewska M, Byrne PC.

Cell Biol Int. 2015 Sep;39(9):1007-15. doi: 10.1002/cbin.10472. Epub 2015 May 8.


The role of spartin and its novel ubiquitin binding region in DALIS occurrence.

Karlsson AB, Washington J, Dimitrova V, Hooper C, Shekhtman A, Bakowska JC.

Mol Biol Cell. 2014 Apr;25(8):1355-65. doi: 10.1091/mbc.E13-11-0705. Epub 2014 Feb 12.


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. 2013 Feb 20;77(4):680-95. doi: 10.1016/j.neuron.2012.12.015.


Spg20-/- mice reveal multimodal functions for Troyer syndrome protein spartin in lipid droplet maintenance, cytokinesis and BMP signaling.

Renvoisé B, Stadler J, Singh R, Bakowska JC, Blackstone C.

Hum Mol Genet. 2012 Aug 15;21(16):3604-18. doi: 10.1093/hmg/dds191. Epub 2012 May 22.


Motor neuron disease due to neuropathy target esterase gene mutation: clinical features of the index families.

Rainier S, Albers JW, Dyck PJ, Eldevik OP, Wilcock S, Richardson RJ, Fink JK.

Muscle Nerve. 2011 Jan;43(1):19-25. doi: 10.1002/mus.21777.


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. 2010 Oct 1;21(19):3293-303. doi: 10.1091/mbc.E09-10-0879. Epub 2010 Aug 18.


Developmental and degenerative features in a complicated spastic paraplegia.

Manzini MC, Rajab A, Maynard TM, Mochida GH, Tan WH, Nasir R, Hill RS, Gleason D, Al Saffar M, Partlow JN, Barry BJ, Vernon M, LaMantia AS, Walsh CA.

Ann Neurol. 2010 Apr;67(4):516-25. doi: 10.1002/ana.21923.


Identification of novel spartin-interactors shows spartin is a multifunctional protein.

Milewska M, McRedmond J, Byrne PC.

J Neurochem. 2009 Nov;111(4):1022-30. doi: 10.1111/j.1471-4159.2009.06382.x. Epub 2009 Sep 16.


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. 2009 Sep 14;423(1):31-9. doi: 10.1042/BJ20082398. Erratum in: Biochem J. 2009 Nov 1;423(3):442.

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