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Items: 1 to 20 of 114

1.

Molecular characterization and expression analysis of Mtmr2, mouse homologue of MTMR2, the Myotubularin-related 2 gene, mutated in CMT4B.

Bolino A, Marigo V, Ferrera F, Loader J, Romio L, Leoni A, Di Duca M, Cinti R, Cecchi C, Feltri ML, Wrabetz L, Ravazzolo R, Monaco AP.

Gene. 2002 Jan 23;283(1-2):17-26.

PMID:
11867209
2.

Loss of phosphatase activity in myotubularin-related protein 2 is associated with Charcot-Marie-Tooth disease type 4B1.

Berger P, Bonneick S, Willi S, Wymann M, Suter U.

Hum Mol Genet. 2002 Jun 15;11(13):1569-79.

3.

Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2.

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.

Nat Genet. 2000 May;25(1):17-9.

PMID:
10802647
5.
6.
8.

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.

Azzedine H, Bolino A, Taïeb 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.

Am J Hum Genet. 2003 May;72(5):1141-53.

9.

Myotubularin-related 2 protein phosphatase and neurofilament light chain protein, both mutated in CMT neuropathies, interact in peripheral nerve.

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.

Hum Mol Genet. 2003 Jul 15;12(14):1713-23.

10.

Cloning, expression and characterization of the murine orthologue of SBF2, the gene mutated in Charcot-Marie-Tooth disease type 4B2.

Kirfel J, Senderek J, Moser M, Röper A, Stendel C, Bergmann C, Zerres K, Buettner R.

Gene Expr Patterns. 2006 Oct;6(8):978-84.

PMID:
16750429
11.

Silencing of the Charcot-Marie-Tooth associated MTMR2 gene decreases proliferation and enhances cell death in primary cultures of Schwann cells.

Chojnowski A, Ravisé N, Bachelin C, Depienne C, Ruberg M, Brugg B, Laporte J, Baron-Van Evercooren A, LeGuern E.

Neurobiol Dis. 2007 May;26(2):323-31.

PMID:
17336078
12.

A novel homozygous missense mutation in the myotubularin-related protein 2 gene associated with recessive Charcot-Marie-Tooth disease with irregularly folded myelin sheaths.

Nelis E, Erdem S, Tan E, Löfgren A, Ceuterick C, De Jonghe P, Van Broeckhoven C, Timmerman V, Topaloglu H.

Neuromuscul Disord. 2002 Nov;12(9):869-73.

PMID:
12398840
13.

Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15.

Senderek J, Bergmann C, Weber S, Ketelsen UP, Schorle H, Rudnik-Schöneborn S, Büttner R, Buchheim E, Zerres K.

Hum Mol Genet. 2003 Feb 1;12(3):349-56. Erratum in: Hum Mol Genet. 2004 Feb 1;13(3):363.

14.

Charcot-Marie-Tooth type 4B demyelinating neuropathy: deciphering the role of MTMR phosphatases.

Previtali SC, Quattrini A, Bolino A.

Expert Rev Mol Med. 2007 Sep 20;9(25):1-16. Review.

PMID:
17880751
15.

Crystal structure of a phosphoinositide phosphatase, MTMR2: insights into myotubular myopathy and Charcot-Marie-Tooth syndrome.

Begley MJ, Taylor GS, Kim SA, Veine DM, Dixon JE, Stuckey JA.

Mol Cell. 2003 Dec;12(6):1391-402.

17.

Genetic interaction between MTMR2 and FIG4 phospholipid phosphatases involved in Charcot-Marie-Tooth neuropathies.

Vaccari I, Dina G, Tronchère H, Kaufman E, Chicanne G, Cerri F, Wrabetz L, Payrastre B, Quattrini A, Weisman LS, Meisler MH, Bolino A.

PLoS Genet. 2011 Oct;7(10):e1002319. doi: 10.1371/journal.pgen.1002319.

18.

Disruption of Mtmr2 produces CMT4B1-like neuropathy with myelin outfolding and impaired spermatogenesis.

Bolino A, Bolis A, Previtali SC, Dina G, Bussini S, Dati G, Amadio S, Del Carro U, Mruk DD, Feltri ML, Cheng CY, Quattrini A, Wrabetz L.

J Cell Biol. 2004 Nov 22;167(4):711-21.

19.

Loss of the inactive myotubularin-related phosphatase Mtmr13 leads to a Charcot-Marie-Tooth 4B2-like peripheral neuropathy in mice.

Robinson FL, Niesman IR, Beiswenger KK, Dixon JE.

Proc Natl Acad Sci U S A. 2008 Mar 25;105(12):4916-21. doi: 10.1073/pnas.0800742105.

20.

Genomic characterization of the human and mouse protein tyrosine phosphatase-1B genes.

Forsell PA, Boie Y, Montalibet J, Collins S, Kennedy BP.

Gene. 2000 Dec 30;260(1-2):145-53.

PMID:
11137300
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