| 1 | SPG57, TFG
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| A novel homozygous mutation of the TFG gene in a patient with early onset spastic paraplegia and later onset sensorimotor polyneuropathy.
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| Miyabayashi T, Ochiai T, Suzuki N, Aoki M, Inui T, Okubo Y, Sato R, Togashi N, Takashima H, Ishiura H, Tsuji S, Koh K, Takiyama Y, Haginoya K.
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| J Hum Genet Hum Genet. 2018 Nov 22. doi: 10.1038/s10038-018-0538-4. [Epub ahead of print]
2018
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| 2 | SPG57, TFG
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| Pathogenic TFG Mutations Underlying Hereditary Spastic Paraplegia Impair Secretory Protein Trafficking and Axon Fasciculation.
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| Slosarek EL, Schuh AL, Pustova I, Johnson A, Bird J, Johnson M, Frankel EB, Bhattacharya N, Hanna MG, Burke JE, Ruhl DA, Quinney K, Block S, Peotter JL, Chapman ER, Sheets MD, Butcher SE, Stagg SM, Audhya A.
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| Cell Rep 24(9):2248-2260. doi: 10.1016/j.celrep.2018.07.081.
2018
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| 3 | SPG57, TFG
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| TFG associated hereditary spastic paraplegia: an addition to the phenotypic spectrum.
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| Tariq H, Naz S.
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| Neurogenetics 18(2):105-109. doi: 10.1007/s10048-017-0508-6. Epub 2017 Jan 25.
2017
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| 4 | SPG57, TFG
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| Novel Genetic, Clinical, and Pathomechanistic Insights into TFG-Associated Hereditary Spastic Paraplegia.
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| Harlalka GV, McEntagart ME, Gupta N, Skrzypiec AE, Mucha MW, Chioza BA, Simpson MA, Sreekantan-Nair A, Pereira A, Günther S, Jahic A, Modarres H, Moore-Barton H, Trembath RC, Kabra M, Baple EL, Thakur S, Patton MA, Beetz C, Pawlak R, Crosby AH.
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| Hum Mutat 37(11):1157-1161. doi: 10.1002/humu.23060. Epub 2016 Aug 30.
2016
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| 5 | SPG57, TFG
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| Inhibition of TFG function causes hereditary axon degeneration by impairing endoplasmic reticulum structure.
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| Beetz C, Johnson A, Schuh AL, Thakur S, Varga RE, Fothergill T, Hertel N, Bomba-Warczak E, Thiele H, Nürnberg G, Altmüller J, Saxena R, Chapman ER, Dent EW, Nürnberg P, Audhya A.
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| Proc Natl Acad Sci U S A 110(13):5091-6. doi: 10.1073/pnas.1217197110. Epub 2013 Mar 11.
2013
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