PRX (gene)

Periaxin, also known as PRX, is a human gene.cite web | title = Entrez Gene: PRX periaxin| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=57716| accessdate = ]

PBB_Summary
section_title =
summary_text = The PRX gene encodes L- and S-periaxin, proteins of myelinating Schwann cells, and is mutated in Dejerine-Sottas syndrome (MIM 145900) and Charcot-Marie-Tooth disease type 4F (MIM 145900). [supplied by OMIM] cite web | title = Entrez Gene: PRX periaxin| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=57716| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Gillespie CS, Lee M, Fantes JF, Brophy PJ |title=The gene encoding the Schwann cell protein periaxin localizes on mouse chromosome 7 (Prx). |journal=Genomics |volume=41 |issue= 2 |pages= 297–8 |year= 1997 |pmid= 9143514 |doi= 10.1006/geno.1997.4630
*cite journal | author=Sherman DL, Brophy PJ |title=A tripartite nuclear localization signal in the PDZ-domain protein L-periaxin. |journal=J. Biol. Chem. |volume=275 |issue= 7 |pages= 4537–40 |year= 2000 |pmid= 10671475 |doi=
*cite journal | author=Gillespie CS, Sherman DL, Fleetwood-Walker SM, "et al." |title=Peripheral demyelination and neuropathic pain behavior in periaxin-deficient mice. |journal=Neuron |volume=26 |issue= 2 |pages= 523–31 |year= 2000 |pmid= 10839370 |doi=
*cite journal | author=Delague V, Bareil C, Tuffery S, "et al." |title=Mapping of a new locus for autosomal recessive demyelinating Charcot-Marie-Tooth disease to 19q13.1-13.3 in a large consanguineous Lebanese family: exclusion of MAG as a candidate gene. |journal=Am. J. Hum. Genet. |volume=67 |issue= 1 |pages= 236–43 |year= 2000 |pmid= 10848494 |doi=
*cite journal | author=Nagase T, Kikuno R, Nakayama M, "et al." |title=Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. |journal=DNA Res. |volume=7 |issue= 4 |pages= 273–81 |year= 2001 |pmid= 10997877 |doi=
*cite journal | author=Boerkoel CF, Takashima H, Stankiewicz P, "et al." |title=Periaxin mutations cause recessive Dejerine-Sottas neuropathy. |journal=Am. J. Hum. Genet. |volume=68 |issue= 2 |pages= 325–33 |year= 2001 |pmid= 11133365 |doi=
*cite journal | author=Guilbot A, Williams A, Ravisé N, "et al." |title=A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease. |journal=Hum. Mol. Genet. |volume=10 |issue= 4 |pages= 415–21 |year= 2001 |pmid= 11157804 |doi=
*cite journal | author=Sherman DL, Fabrizi C, Gillespie CS, Brophy PJ |title=Specific disruption of a schwann cell dystrophin-related protein complex in a demyelinating neuropathy. |journal=Neuron |volume=30 |issue= 3 |pages= 677–87 |year= 2001 |pmid= 11430802 |doi=
*cite journal | author=Wistow G, Bernstein SL, Wyatt MK, "et al." |title=Expressed sequence tag analysis of adult human lens for the NEIBank Project: over 2000 non-redundant transcripts, novel genes and splice variants. |journal=Mol. Vis. |volume=8 |issue= |pages= 171–84 |year= 2002 |pmid= 12107413 |doi=
*cite journal | author=Takashima H, Boerkoel CF, De Jonghe P, "et al." |title=Periaxin mutations cause a broad spectrum of demyelinating neuropathies. |journal=Ann. Neurol. |volume=51 |issue= 6 |pages= 709–15 |year= 2002 |pmid= 12112076 |doi= 10.1002/ana.10213
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Straub BK, Boda J, Kuhn C, "et al." |title=A novel cell-cell junction system: the cortex adhaerens mosaic of lens fiber cells. |journal=J. Cell. Sci. |volume=116 |issue= Pt 24 |pages= 4985–95 |year= 2004 |pmid= 14625392 |doi= 10.1242/jcs.00815
*cite journal | author=Kijima K, Numakura C, Shirahata E, "et al." |title=Periaxin mutation causes early-onset but slow-progressive Charcot-Marie-Tooth disease. |journal=J. Hum. Genet. |volume=49 |issue= 7 |pages= 376–9 |year= 2004 |pmid= 15197604 |doi= 10.1007/s10038-004-0162-3
*cite journal | author=Gerhard DS, Wagner L, Feingold EA, "et al." |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504
*cite journal | author=Kabzinska D, Drac H, Sherman DL, "et al." |title=Charcot-Marie-Tooth type 4F disease caused by S399fsx410 mutation in the PRX gene. |journal=Neurology |volume=66 |issue= 5 |pages= 745–7 |year= 2006 |pmid= 16534116 |doi= 10.1212/01.wnl.0000201269.46071.35
*cite journal | author=Otagiri T, Sugai K, Kijima K, "et al." |title=Periaxin mutation in Japanese patients with Charcot-Marie-Tooth disease. |journal=J. Hum. Genet. |volume=51 |issue= 7 |pages= 625–8 |year= 2006 |pmid= 16770524 |doi= 10.1007/s10038-006-0408-3
*cite journal | author=Olsen JV, Blagoev B, Gnad F, "et al." |title=Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. |journal=Cell |volume=127 |issue= 3 |pages= 635–48 |year= 2006 |pmid= 17081983 |doi= 10.1016/j.cell.2006.09.026

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