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Items: 1 to 20 of 125

1.

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.

2.

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
5.

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
6.

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
7.

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
8.

Phenotypic analysis of neurofilament light gene mutations linked to Charcot-Marie-Tooth disease in cell culture models.

Perez-Olle R, Jones ST, Liem RK.

Hum Mol Genet. 2004 Oct 1;13(19):2207-20. Epub 2004 Jul 28.

PMID:
15282209
9.
10.

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
11.
12.

Myotubularin, a phosphatase deficient in myotubular myopathy, acts on phosphatidylinositol 3-kinase and phosphatidylinositol 3-phosphate pathway.

Blondeau F, Laporte J, Bodin S, Superti-Furga G, Payrastre B, Mandel JL.

Hum Mol Genet. 2000 Sep 22;9(15):2223-9.

PMID:
11001925
13.

Charcot-Marie-Tooth disease neurofilament mutations disrupt neurofilament assembly and axonal transport.

Brownlees J, Ackerley S, Grierson AJ, Jacobsen NJ, Shea K, Anderton BH, Leigh PN, Shaw CE, Miller CC.

Hum Mol Genet. 2002 Nov 1;11(23):2837-44.

PMID:
12393795
14.

Aggregate formation and phosphorylation of neurofilament-L Pro22 Charcot-Marie-Tooth disease mutants.

Sasaki T, Gotow T, Shiozaki M, Sakaue F, Saito T, Julien JP, Uchiyama Y, Hisanaga S.

Hum Mol Genet. 2006 Mar 15;15(6):943-52. Epub 2006 Feb 1.

PMID:
16452125
15.
16.
17.

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.

18.

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
19.

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
20.

Is a novel I214M substitution in the NEFL gene a cause of Charcot-Marie-Tooth disease? Functional analysis using cell culture models.

Kabzińska D, Perez-Olle R, Goryunov D, Drac H, Ryniewicz B, Hausmanowa-Petrusewicz I, Kochański A, Liem RK.

J Peripher Nerv Syst. 2006 Sep;11(3):225-31.

PMID:
16930284

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