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Items: 15


A recurrent copy number variation of the NEB triplicate region: only revealed by the targeted nemaline myopathy CGH array.

Kiiski K, Lehtokari VL, Löytynoja A, Ahlstén L, Laitila J, Wallgren-Pettersson C, Pelin K.

Eur J Hum Genet. 2016 Apr;24(4):574-80. doi: 10.1038/ejhg.2015.166. Epub 2015 Jul 22.


Structure of giant muscle proteins.

Meyer LC, Wright NT.

Front Physiol. 2013 Dec 12;4:368. doi: 10.3389/fphys.2013.00368. Review.


The desmin coil 1B mutation K190A impairs nebulin Z-disc assembly and destabilizes actin thin filaments.

Conover GM, Gregorio CC.

J Cell Sci. 2011 Oct 15;124(Pt 20):3464-76. doi: 10.1242/jcs.087080. Epub 2011 Oct 7.


The Nebulin family: an actin support group.

Pappas CT, Bliss KT, Zieseniss A, Gregorio CC.

Trends Cell Biol. 2011 Jan;21(1):29-37. doi: 10.1016/j.tcb.2010.09.005. Epub 2010 Oct 15. Review.


Isolation of nebulin from rabbit skeletal muscle and its interaction with actin.

Chitose R, Watanabe A, Asano M, Hanashima A, Sasano K, Bao Y, Maruyama K, Kimura S.

J Biomed Biotechnol. 2010;2010:108495. doi: 10.1155/2010/108495. Epub 2010 May 12.


Differential splicing of the large sarcomeric protein nebulin during skeletal muscle development.

Buck D, Hudson BD, Ottenheijm CA, Labeit S, Granzier H.

J Struct Biol. 2010 May;170(2):325-33. doi: 10.1016/j.jsb.2010.02.014. Epub 2010 Feb 20.


Muscle giants: molecular scaffolds in sarcomerogenesis.

Kontrogianni-Konstantopoulos A, Ackermann MA, Bowman AL, Yap SV, Bloch RJ.

Physiol Rev. 2009 Oct;89(4):1217-67. doi: 10.1152/physrev.00017.2009. Review.


Nanomechanics of full-length nebulin: an elastic strain gauge in the skeletal muscle sarcomere.

Yadavalli VK, Forbes JG, Wang K.

Langmuir. 2009 Jul 7;25(13):7496-505. doi: 10.1021/la9009898.


A myopathy-linked desmin mutation perturbs striated muscle actin filament architecture.

Conover GM, Henderson SN, Gregorio CC.

Mol Biol Cell. 2009 Feb;20(3):834-45. doi: 10.1091/mbc.E08-07-0753. Epub 2008 Nov 12.


Crystal structure of the C-terminal half of tropomodulin and structural basis of actin filament pointed-end capping.

Krieger I, Kostyukova A, Yamashita A, Nitanai Y, Maéda Y.

Biophys J. 2002 Nov;83(5):2716-25.


Distinct families of Z-line targeting modules in the COOH-terminal region of nebulin.

Ojima K, Lin ZX, Bang M, Holtzer S, Matsuda R, Labeit S, Sweeney HL, Holtzer H.

J Cell Biol. 2000 Aug 7;150(3):553-66.


Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy.

Pelin K, Hilpelä P, Donner K, Sewry C, Akkari PA, Wilton SD, Wattanasirichaigoon D, Bang ML, Centner T, Hanefeld F, Odent S, Fardeau M, Urtizberea JA, Muntoni F, Dubowitz V, Beggs AH, Laing NG, Labeit S, de la Chapelle A, Wallgren-Pettersson C.

Proc Natl Acad Sci U S A. 1999 Mar 2;96(5):2305-10.


Lasp-1, a novel type of actin-binding protein accumulating in cell membrane extensions.

Schreiber V, Moog-Lutz C, Régnier CH, Chenard MP, Boeuf H, Vonesch JL, Tomasetto C, Rio MC.

Mol Med. 1998 Oct;4(10):675-87.


Expression and purification of large nebulin fragments and their interaction with actin.

Zhang JQ, Weisberg A, Horowits R.

Biophys J. 1998 Jan;74(1):349-59.


Giant protein kinases: domain interactions and structural basis of autoregulation.

Kobe B, Heierhorst J, Feil SC, Parker MW, Benian GM, Weiss KR, Kemp BE.

EMBO J. 1996 Dec 16;15(24):6810-21.

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