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Results: 1 to 20 of 101

1.

The CMT4B disease-causing phosphatases Mtmr2 and Mtmr13 localize to the Schwann cell cytoplasm and endomembrane compartments, where they depend upon each other to achieve wild-type levels of protein expression.

Ng AA, Logan AM, Schmidt EJ, Robinson FL.

Hum Mol Genet. 2013 Apr 15;22(8):1493-506. doi: 10.1093/hmg/dds562. Epub 2013 Jan 7.

PMID:
23297362
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

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. Epub 2008 Mar 18.

PMID:
18349142
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

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
[PubMed - indexed for MEDLINE]
4.

Mtmr13/Sbf2-deficient mice: an animal model for CMT4B2.

Tersar K, Boentert M, Berger P, Bonneick S, Wessig C, Toyka KV, Young P, Suter U.

Hum Mol Genet. 2007 Dec 15;16(24):2991-3001. Epub 2007 Sep 12.

PMID:
17855448
[PubMed - indexed for MEDLINE]
Free Article
5.

The phosphoinositide-3-phosphatase MTMR2 associates with MTMR13, a membrane-associated pseudophosphatase also mutated in type 4B Charcot-Marie-Tooth disease.

Robinson FL, Dixon JE.

J Biol Chem. 2005 Sep 9;280(36):31699-707. Epub 2005 Jul 5.

PMID:
15998640
[PubMed - indexed for MEDLINE]
Free Article
6.

The CMT4B disease-causing proteins MTMR2 and MTMR13/SBF2 regulate AKT signalling.

Berger P, Tersar K, Ballmer-Hofer K, Suter U.

J Cell Mol Med. 2011 Feb;15(2):307-15. doi: 10.1111/j.1582-4934.2009.00967.x.

PMID:
19912440
[PubMed - indexed for MEDLINE]
7.

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. Epub 2011 Oct 20.

PMID:
22028665
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Myotubularin-related (MTMR) phospholipid phosphatase proteins in the peripheral nervous system.

Bolis A, Zordan P, Coviello S, Bolino A.

Mol Neurobiol. 2007 Jun;35(3):308-16. Review.

PMID:
17917119
[PubMed - indexed for MEDLINE]
9.

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. Epub 2003 Apr 8.

PMID:
12687498
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Loss of Mtmr2 phosphatase in Schwann cells but not in motor neurons causes Charcot-Marie-Tooth type 4B1 neuropathy with myelin outfoldings.

Bolis A, Coviello S, Bussini S, Dina G, Pardini C, Previtali SC, Malaguti M, Morana P, Del Carro U, Feltri ML, Quattrini A, Wrabetz L, Bolino A.

J Neurosci. 2005 Sep 14;25(37):8567-77.

PMID:
16162938
[PubMed - indexed for MEDLINE]
Free Article
11.

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.

PMID:
15557122
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

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.

PMID:
12837694
[PubMed - indexed for MEDLINE]
Free Article
13.

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.

PMID:
12045210
[PubMed - indexed for MEDLINE]
Free Article
14.

Dlg1, Sec8, and Mtmr2 regulate membrane homeostasis in Schwann cell myelination.

Bolis A, Coviello S, Visigalli I, Taveggia C, Bachi A, Chishti AH, Hanada T, Quattrini A, Previtali SC, Biffi A, Bolino A.

J Neurosci. 2009 Jul 8;29(27):8858-70. doi: 10.1523/JNEUROSCI.1423-09.2009.

PMID:
19587293
[PubMed - indexed for MEDLINE]
Free Article
15.

Multi-level regulation of myotubularin-related protein-2 phosphatase activity by myotubularin-related protein-13/set-binding factor-2.

Berger P, Berger I, Schaffitzel C, Tersar K, Volkmer B, Suter U.

Hum Mol Genet. 2006 Feb 15;15(4):569-79. Epub 2006 Jan 6.

PMID:
16399794
[PubMed - indexed for MEDLINE]
Free Article
16.

Pathomechanisms of mutant proteins in Charcot-Marie-Tooth disease.

Niemann A, Berger P, Suter U.

Neuromolecular Med. 2006;8(1-2):217-42. Review.

PMID:
16775378
[PubMed - indexed for MEDLINE]
17.

Myotubularin and MTMR2, phosphatidylinositol 3-phosphatases mutated in myotubular myopathy and type 4B Charcot-Marie-Tooth disease.

Kim SA, Taylor GS, Torgersen KM, Dixon JE.

J Biol Chem. 2002 Feb 8;277(6):4526-31. Epub 2001 Dec 3.

PMID:
11733541
[PubMed - indexed for MEDLINE]
Free Article
18.

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. Epub 2007 Jan 25.

PMID:
17336078
[PubMed - indexed for MEDLINE]
19.

Multiple disease-linked myotubularin mutations cause NFL assembly defects in cultured cells and disrupt myotubularin dimerization.

Goryunov D, Nightingale A, Bornfleth L, Leung C, Liem RK.

J Neurochem. 2008 Mar;104(6):1536-52. Epub 2007 Oct 31.

PMID:
17973976
[PubMed - indexed for MEDLINE]
20.

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.

PMID:
12554688
[PubMed - indexed for MEDLINE]
Free Article

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