| 1 | ANK2, PRX
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| Ankyrin-B directs membrane tethering of periaxin and is required for maintenance of lens fiber cell hexagonal shape and mechanics.
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| Maddala R, Walters M, Brophy PJ, Bennett V, Rao PV.
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| Am J Physiol Cell Physiol 310(2):C115-26. doi: 10.1152/ajpcell.00111.2015. Epub 2015 Nov 4.
2016
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| 2 | PRX
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| L-periaxin interacts with S-periaxin through its PDZ domain.
|
| Yang Y, Shi Y.
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| Neurosci Lett 609:23-9. doi: 10.1016/j.neulet.2015.10.020. Epub 2015 Oct 17.
2015
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| 3 | CMT4F, PRX
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| Novel Compound Heterozygous Nonsense PRX Mutations in a Korean Dejerine-Sottas Neuropathy Family.
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| Choi YJ, Hyun YS, Nam SH, Koo H, Hong YB, Chung KW, Choi BO.
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| J Clin Neurol 11(1):92-6. doi: 10.3988/jcn.2015.11.1.92. Epub 2014 Nov 11.
2015
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| 4 | DRP2, PRX
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| Absence of Dystrophin Related Protein-2 disrupts Cajal bands in a patient with Charcot-Marie-Tooth disease.
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| Brennan KM, Bai Y, Pisciotta C, Wang S, Feely SM, Hoegger M, Gutmann L, Moore SA, Gonzalez M, Sherman DL, Brophy PJ, Züchner S, Shy ME.
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| Neuromuscul Disord 25(10):786-93. doi: 10.1016/j.nmd.2015.07.001. Epub 2015 Jul 7.
2015
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| 5 | AHNAK2, PRX
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| Periaxin and AHNAK nucleoprotein 2 form intertwined homodimers through domain swapping.
|
| Han H, Kursula P.
|
| J Biol Chem 289(20):14121-31. doi: 10.1074/jbc.M114.554816. Epub 2014 Mar 27.
2014
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| 6 | PRX
|
| Nuclear export of L-periaxin, mediated by its nuclear export signal in the PDZ domain.
|
| Shi Y, Zhang L, Yang T.
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| PLoS One 9(3):e91953. doi: 10.1371/journal.pone.0091953. eCollection 2014.
2014
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| 7 | CMT4F, PRX
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| [Charcot-Marie-Tooth disease associated with periaxin mutations (CMT4F): Clinical, electrophysiological and genetic analysis of 24 patients].
|
| Renouil M, Stojkovic T, Jacquemont ML, Lauret K, Boué P, Fourmaintraux A, Randrianaivo H, Tallot M, Mignard D, Roelens P, Tabailloux D, Bernard R, Cartault F, Chane-Thien E, Dubourg O, Ferrer X, Sole G, Fournier E, Latour P, Lacour A, Mignard C.
|
| Rev Neurol (Paris) 169(8-9):603-12. doi: 10.1016/j.neurol.2013.07.004. Epub 2013 Sep 5. French.
2013
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| 8 | PRX
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| Preliminary crystallographic analysis of the N-terminal PDZ-like domain of periaxin, an abundant peripheral nerve protein linked to human neuropathies.
|
| Han H, Kursula P.
|
| Acta Crystallogr Sect F Struct Biol Cryst Commun 69(Pt 7):804-8. doi: 10.1107/S1744309113016266. Epub 2013 Jun 30.
2013
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| 9 | CMT4F, PRX
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| Late-onset Charcot-Marie-Tooth disease 4F caused by periaxin gene mutation.
|
| Tokunaga S, Hashiguchi A, Yoshimura A, Maeda K, Suzuki T, Haruki H, Nakamura T, Okamoto Y, Takashima H.
|
| Neurogenetics eurogenetics. 2012 Aug 1. [Epub ahead of print]
2012
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| 10 | AHNAK, AHNAK2, PRX
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| Self-regulated alternative splicing at the AHNAK locus.
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| de Morrée A, Droog M, Grand Moursel L, Bisschop IJ, Impagliazzo A, Frants RR, Klooster R, van der Maarel SM.
|
| FASEB J 26(1):93-103. doi: 10.1096/fj.11-187971. Epub 2011 Sep 22.
2012
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| 11 | DRP2, PRX
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| Drp2 and periaxin form Cajal bands with dystroglycan but have distinct roles in Schwann cell growth.
|
| Sherman DL, Wu LM, Grove M, Gillespie CS, Brophy PJ.
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| J Neurosci 32(27):9419-28. doi: 10.1523/JNEUROSCI.1220-12.2012.
2012
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| 12 | PRX
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| Periaxin is required for hexagonal geometry and membrane organization of mature lens fibers.
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| Maddala R, Skiba NP, Lalane R 3rd, Sherman DL, Brophy PJ, Rao PV.
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| Dev Biol 357(1):179-90. Epub 2011 Jul 2.
2011
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| 13 | 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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| 14 | CMT4F, PRX
|
| Four novel cases of periaxin-related neuropathy and review of the literature.
|
| Marchesi C, Milani M, Morbin M, Cesani M, Lauria G, Scaioli V, Piccolo G, Fabrizi GM, Cavallaro T, Taroni F, Pareyson D.
|
| Neurology 75(20):1830-8. Review.
2010
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| 15 | CMT4F, PRX
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| Two novel mutations in the GDAP1 and PRX genes in early onset Charcot-Marie-Tooth syndrome.
|
| Auer-Grumbach M, Fischer C, Papić L, John E, Plecko B, Bittner RE, Bernert G, Pieber TR, Miltenberger G, Schwarz R, Windpassinger C, Grill F, Timmerman V, Speicher MR, Janecke AR.
|
| Neuropediatrics 39(1):33-8.
2008
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| 16 | PRX
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| Remodeling of motor nerve terminals in demyelinating axons of periaxin-null mice.
|
| Court FA, Brophy PJ, Ribchester RR.
|
| Glia 56(4):471-9.
2008
|
| 17 | ABL2, AKAP8, ANKRD13D, AP3D1, ARFGAP3, ARMCX6, ASUN, BAT2L, BCl2L13, BNIP3L, BPTF, BRD7, BZW1, BZW2, C12orf43, C19orf26, C1orf105, C2orf49, C6orf81, CA10, CAD, CARHSP1, CBX4, CCDC55, CCDC61, CCNK, CDC42BPB, CDC42EP3, CDC42EP4, CDS2, CENPN, CLK1, COPA, CSDA, CTPS2, DBN1, DCP1A, DECR2, DPF2, DPM1, EIF2AK1, EPB41L4A, EPN1, FAM91A1, FOSL2, FOXK1, GDF5OS, GFOD2, GIGYF2, GPATCH8, GTPBP1, HES7, HNRNPUL1, KIF1C, LPIN2, LRCH4, MAN2C1, MAST1, MED13, MED24, MED26, MINK1, MISP, MYO10, NKTR, OSBP, PAM, PCDH7, PEX14, PHF16, PHRF1, PLCB4, PLXNC1, POM121, POM121L2, PPHLN1, PRICKLE3, PRX, PUM2, RABGGTB, RBEL1, RIMS1, RIMS2, RPL14, RRP1B, RRP8, SAFB, SCAMP3, SCMH1, SCYL1, SENP6, SERBP1, SFRS13A, SFRS17A, SIPA1L1, SLC26A6, SLIRP, SLMAP, SNTA1, SORBS3, SPICE1, SSFA2, STAM, SUB1, TFIP11, TLN2, TMC6, TMEM104, TMEM106B, TMEM22, TOM1, UHRF1, UTP14A, WDR43, ZNF324, ZNF648
|
| Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.
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| Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M.
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| Cell. 127(3):635-48. 2006
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| 18 | PRX, CMT4F
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| Charcot-Marie-Tooth type 4F disease caused by S399fsx410 mutation in the PRX gene.
|
| Kabzinska D, Drac H, Sherman DL, Kostera-Pruszczyk A, Brophy PJ, Kochanski A, Hausmanowa-Petrusewicz I.
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| Neurology 66(5):745-7. 2006
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| 19 | MTMR2, CMT4B1, SBF2, CMT4B2, SH3TC2, CMT4C, PRX, CMT4F, LMNA, CMT2B1
|
| Autosomal-recessive Charcot-Marie-Tooth diseases.
|
| 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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| 20 | PRX, CMT4F
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| Periaxin mutations cause a broad spectrum of demyelinating neuropathies.
|
| Takashima H, Boerkoel CF, De Jonghe P, Ceuterick C, Martin JJ, Voit T, Schroder JM, Williams A, Brophy PJ, Timmerman V, Lupski JR.
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| Ann Neurol 51(6):709-15. 2002
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| 21 | CMT4F, PRX
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| Periaxin mutations cause recessive Dejerine-Sottas neuropathy.
|
| Boerkoel CF, Takashima H, Stankiewicz P, Garcia CA, Leber SM, Rhee-Morris L, Lupski JR.
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| Am J Hum Genet 68(2):325-33. 2001
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| 22 | PRX
|
| Peripheral demyelination and neuropathic pain behavior in periaxin-deficient mice.
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| Gillespie CS, Sherman DL, Fleetwood-Walker SM, Cottrell DF, Tait S, Garry EM, Wallace VC, Ure J, Griffiths IR, Smith A, Brophy PJ.
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| Neuron 26(2):523-31. 2000
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| 23 | PRX
|
| A tripartite nuclear localization signal in the PDZ-domain protein L-periaxin.
|
| Sherman DL, Brophy PJ.
|
| J Biol Chem 275(7):4537-40. 2000
|