| 1 | RAB21, SBF2, VAMP8
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| Starvation-induced MTMR13 and RAB21 activity regulates VAMP8 to promote autophagosome-lysosome fusion.
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| Jean S, Cox S, Nassari S, Kiger AA.
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| EMBO Rep 16(3):297-311. doi: 10.15252/embr.201439464. Epub 2015 Feb 3.
2015
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| 2 | CMT4B2, SBF2
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| Charcot-Marie-Tooth 4B2 caused by a novel mutation in the MTMR13/SBF2 gene in two related Portuguese families.
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| Negrão L, Almendra L, Ribeiro J, Matos A, Geraldo A, Pinto-Basto J.
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| Acta Myol 33(3):144-8.
2014
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| 3 | CMT4B2, SBF2
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| Identification of a novel SBF2 frameshift mutation in charcot-marie-tooth disease type 4B2 using whole-exome sequencing.
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| Chen M, Wu J, Liang N, Tang L, Chen Y, Chen H, Wei W, Wei T, Huang H, Yi X, Qi M.
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| Genomics Proteomics Bioinformatics 12(5):221-7. doi: 10.1016/j.gpb.2014.09.003. Epub 2014 Oct 28.
2014
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| 4 | RAB21, SBF2
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| Sbf/MTMR13 coordinates PI(3)P and Rab21 regulation in endocytic control of cellular remodeling.
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| Jean S, Cox S, Schmidt EJ, Robinson FL, Kiger A.
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| Mol Biol Cell 23(14):2723-40. doi: 10.1091/mbc.E12-05-0375. Epub 2012 May 30.
2012
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| 5 | MTMR2, SBF2
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| The CMT4B disease-causing proteins MTMR2 and MTMR13/SBF2 regulate AKT signalling.
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| Berger P, Tersar K, Ballmer-Hofer K, Suter U.
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| J Cell Mol Med 15(2):307-15. doi: 10.1111/j.1582-4934.2009.00967.x.
2011
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| 6 | FLNB, SBF2
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| Genome-wide association study identifies two novel loci containing FLNB and SBF2 genes underlying stature variation.
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| Lei SF, Tan LJ, Liu XG, Wang L, Yan H, Guo YF, Liu YZ, Xiong DH, Li J, Yang TL, Chen XD, Guo Y, Deng FY, Zhang YP, Zhu XZ, Levy S, Papasian CJ, Hamilton JJ, Recker RR, Deng HW.
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| Hum Mol Genet 18(9):1661-9. Epub 2008 Nov 27.
2009
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| 7 | CMT4B2, SBF2
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| Loss of the inactive myotubularin-related phosphatase Mtmr13 leads to a Charcot-Marie-Tooth 4B2-like peripheral neuropathy in mice.
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| Robinson FL, Niesman IR, Beiswenger KK, Dixon JE.
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| Proc Natl Acad Sci U S A 105(12):4916-21. Epub 2008 Mar 18. 2008
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| 8 | CMT4B1, CMT4B2, MTMR2, SBF2
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| Charcot-Marie-Tooth type 4B demyelinating neuropathy: deciphering the role of MTMR phosphatases.
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| Previtali SC, Quattrini A, Bolino A.
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| Expert Rev Mol Med 9(25):1-16. Review.
2007
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| 9 | SBF2, MTMR2
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| Multi-level regulation of myotubularin-related protein-2 phosphatase activity by myotubularin-related protein-13/set-binding factor-2.
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| Berger P, Berger I, Schaffitzel C, Tersar K, Volkmer B, Suter U.
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| Hum Mol Genet 15(4):569-79. Epub 2006 Jan 6. 2006
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| 10 | MTMR2, CMT4B1, SBF2, CMT4B2, SH3TC2, CMT4C, PRX, CMT4F, LMNA, CMT2B1
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| Autosomal-recessive Charcot-Marie-Tooth diseases.
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| Vallat JM, Tazir M, Magdelaine C, Sturtz F, Grid D.
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| J Neuropathol Exp Neurol 64(5):363-70. Review. 2005
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| 11 | SBF2, CMT4B2
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| SET binding factor 2 (SBF2) mutation causes CMT4B with juvenile onset glaucoma.
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| Hirano R, Takashima H, Umehara F, Arimura H, Michizono K, Okamoto Y, Nakagawa M, Boerkoel CF, Lupski JR, Osame M, Arimura K.
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| Neurology 63(3):577-80. 2004
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| 12 | SBF2, CMT4B2
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| A new SBF2 mutation in a family with recessive demyelinating Charcot-Marie-Tooth (CMT4B2).
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| Conforti FL, Muglia M, Mazzei R, Patitucci A, Valentino P, Magariello A, Sprovieri T, Bono F, Bergmann C, Gabriele AL, Peluso G, Nistico R, Senderek J, Quattrone A.
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| Neurology 63(7):1327-8. No abstract available. 2004
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| 13 | SBF2, CMT4B2
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| Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15
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| Senderek J, Bergmann C, Weber S, Ketelsen UP, Schorle H, Rudnik-Schoneborn S, Buttner R, Buchheim E, Zerres K.
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| Hum Mol Genet 12(3):349-56. 2003
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| 14 | SBF2, CMT4B2
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| Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma.
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| Azzedine H, Bolino A, Taieb T, Birouk N, Di Duca M, Bouhouche A, Benamou S, Mrabet A, Hammadouche T, Chkili T, Gouider R, Ravazzolo R, Brice A, Laporte J, LeGuern E.
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| Am J Hum Genet 72(5):1141-53. Epub 2003 Apr 08. 2003
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| 15 | CMT4B2, SBF2
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| Identification of a new locus for autosomal recessive charcot-marie-tooth disease with focally folded myelin on chromosome 11p15.
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| Othmane KB, Johnson E, Menold M, Graham FL, Hamida MB, Hasegawa O, Rogala AD, Ohnishi A, Pericak-Vance M, Hentati F, Vance JM.
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| Genomics 62(3):344-9 1999
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