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Items: 1 to 20 of 157

1.

Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathy.

Duff RM, Tay V, Hackman P, Ravenscroft G, McLean C, Kennedy P, Steinbach A, Schöffler W, van der Ven PFM, Fürst DO, Song J, Djinović-Carugo K, Penttilä S, Raheem O, Reardon K, Malandrini A, Gambelli S, Villanova M, Nowak KJ, Williams DR, Landers JE, Brown RH Jr, Udd B, Laing NG.

Am J Hum Genet. 2011 Jun 10;88(6):729-740. doi: 10.1016/j.ajhg.2011.04.021. Epub 2011 May 27.

2.

Pathophysiology of protein aggregation and extended phenotyping in filaminopathy.

Kley RA, Serdaroglu-Oflazer P, Leber Y, Odgerel Z, van der Ven PF, Olivé M, Ferrer I, Onipe A, Mihaylov M, Bilbao JM, Lee HS, Höhfeld J, Djinović-Carugo K, Kong K, Tegenthoff M, Peters SA, Stenzel W, Vorgerd M, Goldfarb LG, Fürst DO.

Brain. 2012 Sep;135(Pt 9):2642-60. doi: 10.1093/brain/aws200.

3.
4.

Distal myopathy with upper limb predominance caused by filamin C haploinsufficiency.

Guergueltcheva V, Peeters K, Baets J, Ceuterick-de Groote C, Martin JJ, Suls A, De Vriendt E, Mihaylova V, Chamova T, Almeida-Souza L, Ydens E, Tzekov C, Hadjidekov G, Gospodinova M, Storm K, Reyniers E, Bichev S, van der Ven PF, Fürst DO, Mitev V, Lochmüller H, Timmerman V, Tournev I, De Jonghe P, Jordanova A.

Neurology. 2011 Dec 13;77(24):2105-14. doi: 10.1212/WNL.0b013e31823dc51e. Epub 2011 Nov 30.

PMID:
22131542
5.

Filamin C-related myopathies: pathology and mechanisms.

Fürst DO, Goldfarb LG, Kley RA, Vorgerd M, Olivé M, van der Ven PF.

Acta Neuropathol. 2013 Jan;125(1):33-46. doi: 10.1007/s00401-012-1054-9. Epub 2012 Oct 30.

6.

Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity.

Daniel PB, Morgan T, Alanay Y, Bijlsma E, Cho TJ, Cole T, Collins F, David A, Devriendt K, Faivre L, Ikegawa S, Jacquemont S, Jesic M, Krakow D, Liebrecht D, Maitz S, Marlin S, Morin G, Nishikubo T, Nishimura G, Prescott T, Scarano G, Shafeghati Y, Skovby F, Tsutsumi S, Whiteford M, Zenker M, Robertson SP.

Hum Mutat. 2012 Apr;33(4):665-73. doi: 10.1002/humu.22012. Epub 2012 Jan 23.

PMID:
22190451
7.

Dominant-negative effects of a novel mutation in the filamin myopathy.

Kono S, Nishio T, Takahashi Y, Goto-Inoue N, Kinoshita M, Zaima N, Suzuki H, Fukutoku-Otsuji A, Setou M, Miyajima H.

Neurology. 2010 Aug 10;75(6):547-54. doi: 10.1212/WNL.0b013e3181ec7fbd. Retraction in: Neurology. 2010 Dec 7;75(23):2138.

PMID:
20697107
8.

A combined laser microdissection and mass spectrometry approach reveals new disease relevant proteins accumulating in aggregates of filaminopathy patients.

Kley RA, Maerkens A, Leber Y, Theis V, Schreiner A, van der Ven PF, Uszkoreit J, Stephan C, Eulitz S, Euler N, Kirschner J, Müller K, Meyer HE, Tegenthoff M, Fürst DO, Vorgerd M, Müller T, Marcus K.

Mol Cell Proteomics. 2013 Jan;12(1):215-27. doi: 10.1074/mcp.M112.023176. Epub 2012 Oct 31.

9.

DNA sequencing errors in molecular diagnostics of filamin myopathy.

Odgerel Z, van der Ven PF, Fürst DO, Goldfarb LG.

Clin Chem Lab Med. 2010 Oct;48(10):1409-14. doi: 10.1515/CCLM.2010.272. Epub 2010 Jun 27.

PMID:
20578970
10.

In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy.

Shatunov A, Olivé M, Odgerel Z, Stadelmann-Nessler C, Irlbacher K, van Landeghem F, Bayarsaikhan M, Lee HS, Goudeau B, Chinnery PF, Straub V, Hilton-Jones D, Damian MS, Kaminska A, Vicart P, Bushby K, Dalakas MC, Sambuughin N, Ferrer I, Goebel HH, Goldfarb LG.

Eur J Hum Genet. 2009 May;17(5):656-63. doi: 10.1038/ejhg.2008.226. Epub 2008 Dec 3.

11.

Chicken gizzard filamin, retina filamin and cgABP260 are respectively, smooth muscle-, non-muscle- and pan-muscle-type isoforms: distribution and localization in muscles.

Ohashi K, Oshima K, Tachikawa M, Morikawa N, Hashimoto Y, Ito M, Mori H, Kuribayashi T, Terasaki AG.

Cell Motil Cytoskeleton. 2005 Aug;61(4):214-25.

PMID:
15986405
12.

The Z-disc proteins myotilin and FATZ-1 interact with each other and are connected to the sarcolemma via muscle-specific filamins.

Gontier Y, Taivainen A, Fontao L, Sonnenberg A, van der Flier A, Carpen O, Faulkner G, Borradori L.

J Cell Sci. 2005 Aug 15;118(Pt 16):3739-49. Epub 2005 Aug 2.

13.

Crystal structure of the filamin N-terminal region reveals a hinge between the actin binding and first repeat domains.

Sawyer GM, Sutherland-Smith AJ.

J Mol Biol. 2012 Dec 14;424(5):240-7. doi: 10.1016/j.jmb.2012.09.016. Epub 2012 Oct 2.

PMID:
23036857
14.

Structure of the human filamin A actin-binding domain.

Ruskamo S, Ylänne J.

Acta Crystallogr D Biol Crystallogr. 2009 Nov;65(Pt 11):1217-21. doi: 10.1107/S0907444909037330. Epub 2009 Oct 22.

PMID:
19923718
15.

Filamin C plays an essential role in the maintenance of the structural integrity of cardiac and skeletal muscles, revealed by the medaka mutant zacro.

Fujita M, Mitsuhashi H, Isogai S, Nakata T, Kawakami A, Nonaka I, Noguchi S, Hayashi YK, Nishino I, Kudo A.

Dev Biol. 2012 Jan 1;361(1):79-89. doi: 10.1016/j.ydbio.2011.10.008. Epub 2011 Oct 14.

16.

The E3 ubiquitin ligase specificity subunit ASB2α targets filamins for proteasomal degradation by interacting with the filamin actin-binding domain.

Razinia Z, Baldassarre M, Bouaouina M, Lamsoul I, Lutz PG, Calderwood DA.

J Cell Sci. 2011 Aug 1;124(Pt 15):2631-41. doi: 10.1242/jcs.084343. Epub 2011 Jul 12.

17.

Molecular basis of filamin A-FilGAP interaction and its impairment in congenital disorders associated with filamin A mutations.

Nakamura F, Heikkinen O, Pentikäinen OT, Osborn TM, Kasza KE, Weitz DA, Kupiainen O, Permi P, Kilpeläinen I, Ylänne J, Hartwig JH, Stossel TP.

PLoS One. 2009;4(3):e4928. doi: 10.1371/journal.pone.0004928. Epub 2009 Mar 18.

18.

Skeletal dysplasias due to filamin A mutations result from a gain-of-function mechanism distinct from allelic neurological disorders.

Clark AR, Sawyer GM, Robertson SP, Sutherland-Smith AJ.

Hum Mol Genet. 2009 Dec 15;18(24):4791-800. doi: 10.1093/hmg/ddp442. Epub 2009 Sep 22.

PMID:
19773341
19.

Filamin A mutant lacking actin-binding domain restores mu opioid receptor regulation in melanoma cells.

Onoprishvili I, Ali S, Andria ML, Shpigel A, Simon EJ.

Neurochem Res. 2008 Oct;33(10):2054-61. doi: 10.1007/s11064-008-9684-y. Epub 2008 Apr 11.

PMID:
18404377
20.

Filamin A controls matrix metalloproteinase activity and regulates cell invasion in human fibrosarcoma cells.

Baldassarre M, Razinia Z, Brahme NN, Buccione R, Calderwood DA.

J Cell Sci. 2012 Aug 15;125(Pt 16):3858-69. doi: 10.1242/jcs.104018. Epub 2012 May 17.

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