| 1 | CCDC22, CCDC93, COMMD1, MTMR2
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| Endosomal PI(3)P regulation by the COMMD/CCDC22/CCDC93 (CCC) complex controls membrane protein recycling
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| Singla A, Fedoseienko A, Giridharan SSP, Overlee BL, Lopez A, Jia D, Song J, Huff-Hardy K, Weisman L, Burstein E, Billadeau DD.
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| Nat Commun. Sep 19;10(1):4271. doi: 10.1038/s41467-019-12221-6. 2019
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| 2 | MTMR2
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| Endosomal targeting of the phosphoinositide 3-phosphatase MTMR2 is regulated by an N-terminal phosphorylation site.
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| Franklin NE, Taylor GS, Vacratsis PO.
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| J Biol Chem 286(18):15841-53. Epub 2011 Mar 3.
2011
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| 3 | CMT4B1, CMT4F, MTMR2, PRX
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| Novel mutations in the PRX and the MTMR2 genes are responsible for unusual Charcot-Marie-Tooth disease phenotypes.
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| Nouioua S, Hamadouche T, Funalot B, Bernard R, Bellatache N, Bouderba R, Grid D, Assami S, Benhassine T, Levy N, Vallat JM, Tazir M.
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| Neuromuscul Disord 21(8):543-50. doi: 10.1016/j.nmd.2011.04.013. Epub 2011 Jul 7.
2011
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| 4 | CMT4B1, CMT4J, FIG4, MTMR2
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| Genetic interaction between MTMR2 and FIG4 phospholipid phosphatases involved in Charcot-Marie-Tooth neuropathies.
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| Vaccari I, Dina G, Tronchère H, Kaufman E, Chicanne G, Cerri F, Wrabetz L, Payrastre B, Quattrini A, Weisman LS, Meisler MH, Bolino A.
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| PLoS Genet 7(10):e1002319. doi: 10.1371/journal.pgen.1002319. Epub 2011 Oct 20.
2011
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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 | DNAJC13, MTMR2
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| Receptor mediated endocytosis 8 is a novel PI(3)P binding protein regulated by myotubularin-related 2.
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| Xhabija B, Taylor GS, Fujibayashi A, Sekiguchi K, Vacratsis PO.
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| FEBS Lett 585(12):1722-8. doi: 10.1016/j.febslet.2011.04.016. Epub 2011 Apr 15.
2011
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| 7 | DLG4, MTMR2
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| The phosphoinositide 3-phosphatase MTMR2 interacts with PSD-95 and maintains excitatory synapses by modulating endosomal traffic.
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| Lee HW, Kim Y, Han K, Kim H, Kim E.
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| J Neurosci 30(16):5508-18.
2010
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| 8 | DLG1, EXOC4, MTMR2
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| Dlg1, Sec8, and Mtmr2 regulate membrane homeostasis in Schwann cell myelination.
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| Bolis A, Coviello S, Visigalli I, Taveggia C, Bachi A, Chishti AH, Hanada T, Quattrini A, Previtali SC, Biffi A, Bolino A.
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| J Neurosci 29(27):8858-70.PMID: 19587293 2009
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| 9 | MTMR2
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| Endosomal phosphoinositides and human diseases.
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| Nicot AS, Laporte J.
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| Traffic 9(8):1240-9. Epub 2008 Apr 21. Review.
2008
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| 10 | 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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| 11 | CMT4B1, MTMR2
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| Silencing of the Charcot-Marie-Tooth associated MTMR2 gene decreases proliferation and enhances cell death in primary cultures of Schwann cells.
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| Chojnowski A, Ravisé N, Bachelin C, Depienne C, Ruberg M, Brugg B, Laporte J, Baron-Van Evercooren A, LeGuern E.
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| Neurobiol Dis 26(2):323-31. Epub 2007 Jan 25.
2007
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| 12 | 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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| 13 | MTMR1, MTMR2, MTMR4, MTMR8, MTMR9
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| Systematic analysis of myotubularins: heteromeric interactions, subcellular localisation and endosome related functions.
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| Lorenzo O, Urbé S, Clague MJ.
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| J Cell Sci 119(Pt 14):2953-9. Epub 2006 Jun 20.
2006
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| 14 | MTMR2, CMT4B1
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| An animal model for Charcot-Marie-Tooth disease type 4B1.
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| Bonneick S, Boentert M, Berger P, Atanasoski S, Mantei N, Wessig C, Toyka KV, Young P, Suter U.
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| Hum Mol Genet 14(23):3685-95. Epub 2005 Oct 25. 2005
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| 15 | 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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| 16 | CMT4B1, MTMR2, NEFL
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| Myotubularin-related 2 protein phosphatase and neurofilament light chain protein, both mutated in CMT neuropathies, interact in peripheral nerve.
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| Previtali SC, Zerega B, Sherman DL, Brophy PJ, Dina G, King RH, Salih MM, Feltri L, Quattrini A, Ravazzolo R, Wrabetz L, Monaco AP, Bolino A.
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| Hum Mol Genet 12(14):1713-23. 2003
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| 17 | CMT4B1, MTMR2
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| Loss of phosphatase activity in myotubularin-related protein 2 is associated with Charcot-Marie-Tooth disease type 4B1.
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| Berger P, Bonneick S, Willi S, Wymann M, Suter U.
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| Hum Mol Genet 11(13):1569-79. 2002
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| 18 | CMT4B1, MTMR2
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| A novel homozygous missense mutation in the myotubularin-related protein 2 gene associated with recessive Charcot-Marie-Tooth disease with irregularly folded myelin sheaths.
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| Nelis E, Erdem S, Tan E, Lofgren A, Ceuterick C, De Jonghe P, Van Broeckhoven C, Timmerman V, Topaloglu H.
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| Neuromuscul Disord 12(9):869-73. 2002
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| 19 | MTMR2
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| Denaturing high-performance liquid chromatography of the myotubularin-related 2 gene (MTMR2) in unrelated patients with Charcot-Marie-Tooth disease suggests a low frequency of mutation in inherited neuropathy.
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| Bolino A, Lonie LJ, Zimmer M, Boerkoel CF, Takashima H, Monaco AP, Lupski JR.
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| Neurogenetics 3(2):107-9. 2001
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| 20 | CMT4B1, MTMR2
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| Mutations in the 5' region of the myotubularin-related protein 2 (MTMR2) gene in autosomal recessive hereditary neuropathy with focally folded myelin.
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| Houlden H, King RH, Wood NW, Thomas PK, Reilly MM.
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| Brain 124(Pt 5):907-15. 2001
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| 21 | CMT4B1, MTMR2
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| Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2.
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| Bolino A, Muglia M, Conforti FL, LeGuern E, Salih MA, Georgiou DM, Christodoulou K, Hausmanowa-Petrusewicz I, Mandich P, Schenone A, Gambardella A, Bono F, Quattrone A, Devoto M, Monaco AP.
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| Nat Genet 25(1):17-9. 2000
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| 22 | CMT4B1, MTMR2
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| Genetic refinement and physical mapping of the CMT4B gene on chromosome 11q22.
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| Bolino A, Levy ER, Muglia M, Conforti FL, LeGuern E, Salih MA, Georgiou DM, Christodoulou RK, Hausmanowa-Petrusewicz I, Mandich P, Gambardella A, Quattrone A, Devoto M, Monaco AP.
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| Genomics 63(2):271-8. 2000
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| 23 | MTM1, MTMR1, MTMR2, MTMR3, MTMR4, MTMR6, MTMR7, SBF1
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| Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human.
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| Laporte J, et al.
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| Hum Mol Genet 7 : 1703-1712. 1998
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