| 1 | CMT1C, LITAF
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| Phenotypic spectrum of Charcot-Marie-Tooth disease due to LITAF/SIMPLE mutations: a study of 18 patients.
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| Guimarães-Costa R, Iancu Ferfoglia R, Leonard-Louis S, Ziegler F, Magy L, Fournier E, Dubourg O, Bouche P, Maisonobe T, Lacour A, Moerman A, Latour P, Stojkovic T.
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| Eur J Neurol 24(3):530-538. doi: 10.1111/ene.13239.
2017
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| 2 | CMT1C, LITAF
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| Dysregulated Inflammatory Signaling upon Charcot-Marie-Tooth Type 1C Mutation of SIMPLE Protein.
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| Li W, Zhu H, Zhao X, Brancho D, Liang Y, Zou Y, Bennett C, Chow CW.
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| Mol Cell Biol 35(14):2464-78.
2015
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| 3 | CMT1C, LITAF
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| A novel LITAF/SIMPLE mutation within a family with a demyelinating form of Charcot-Marie-Tooth disease.
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| Ciotti P, Luigetti M, Geroldi A, Capponi S, Pezzini I, Gulli R, Pazzaglia C, Padua L, Massa R, Mandich P, Bellone E.
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| J Neurol Sci 343(1-2):183-6. doi: 10.1016/j.jns.2014.05.029. Epub 2014 May 22.
2014
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| 4 | CMT1C, LITAF
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| LITAF mutations associated with Charcot-Marie-Tooth disease 1C show mislocalization from the late endosome/lysosome to the mitochondria.
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| Lacerda AF, Hartjes E, Brunetti CR.
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| PLoS One 9(7):e103454. doi: 10.1371/journal.pone.0103454. eCollection 2014.
2014
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| 5 | CMT1C, LITAF
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| Mutation of SIMPLE in Charcot-Marie-Tooth 1C alters production of exosomes.
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| Zhu H, Guariglia S, Yu RY, Li W, Brancho D, Peinado H, Lyden D, Salzer J, Bennett C, Chow CW.
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| Mol Biol Cell 24(11):1619-37, S1-3. doi: 10.1091/mbc.E12-07-0544. Epub 2013 Apr 10.
2013
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| 6 | CMT1C, HGS, LITAF, STAM, TSG101
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| Charcot-Marie-Tooth disease-linked protein SIMPLE functions with the ESCRT machinery in endosomal trafficking.
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| Lee SM, Chin LS, Li L.
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| J Cell Biol 199(5):799-816. doi: 10.1083/jcb.201204137. Epub 2012 Nov 19.
2012
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| 7 | CMT1C, LITAF
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| Mutations associated with Charcot-Marie-Tooth disease cause SIMPLE protein mislocalization and degradation by the proteasome and aggresome-autophagy pathways.
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| Lee SM, Olzmann JA, Chin LS, Li L.
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| J Cell Sci 124(Pt 19):3319-31. doi: 10.1242/jcs.087114. Epub 2011 Sep 6.
2011
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| 8 | CMT1C, LITAF
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| Clinical characterization and genetic analysis of a possible novel type of dominant Charcot-Marie-Tooth disease.
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| Lee YC, Lee TC, Lin KP, Lin MW, Chang MH, Soong BW.
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| Neuromuscul Disord 20(8):534-9.
2010
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| 9 | GJB1, CMTX1, LITAF, CMT1C
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| Clinical, electrophysiological and molecular genetic studies in a family with X-linked dominant Charcot-Marie-Tooth neuropathy presenting a novel mutation in GJB1 Promoter and a rare polymorphism in LITAF/SIMPLE.
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| Beauvais K, Furby A, Latour P.
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| Neuromuscul Disord 16(1):14-8. Epub 2005 Dec 20. 2006
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| 10 | CMT1C, LITAF
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| Mutation frequency for Charcot-Marie-Tooth disease type 1 in the Chinese population is similar to that in the global ethnic patients.
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| Song S, Zhang Y, Chen B, Zhang Y, Wang M, Wang Y, Yan M, Zou J, Huang Y, Zhong N.
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| Genet Med 8(8):532-5. 2006
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| 11 | LITAF, CMT1C
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| SIMPLE mutation analysis in dominant demyelinating Charcot-Marie-Tooth disease: three novel mutations.
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| Latour P, Gonnaud PM, Ollagnon E, Chan V, Perelman S, Stojkovic T, Stoll C, Vial C, Ziegler F, Vandenberghe A, Maire I.
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| J Peripher Nerv Syst 11(2):148-55. 2006
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| 12 | CMT1C, LITAF
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| SIMPLE mutations in Charcot-Marie-Tooth disease and the potential role of its protein product in protein degradation.
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| Saifi GM, Szigeti K, Wiszniewski W, Shy ME, Krajewski K, Hausmanowa-Petrusewicz I, Kochanski A, Reeser S, Mancias P, Butler I, Lupski JR.
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| Hum Mutat 25(4):372-83. 2005
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| 13 | LITAF, PMP22, CMT1A, CMT1C, CMT1E
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| Early onset neuropathy in a compound form of Charcot-Marie-Tooth disease.
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| Meggouh F, de Visser M, Arts WF, De Coo RI, van Schaik IN, Baas F.
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| Ann Neurol 57(4):589-91. 2005
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| 14 | CMT1C, LITAF
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| Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot-Marie-Tooth disease 1C.
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| Street VA, Bennett CL, Goldy JD, Shirk AJ, Kleopa KA, Tempel BL, Lipe HP, Scherer SS, Bird TD, Chance PF.
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| Neurology 60(1):22-6. 2003
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| 15 | CMT1C
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| Mapping of Charcot-Marie-Tooth disease type 1C to chromosome 16p identifies a novel locus for demyelinating neuropathies.
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| Street VA, Goldy JD, Golden AS, Tempel BL, Bird TD, Chance PF.
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| Am J Hum Genet 70(1):244-50. 2002
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