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Items: 1 to 20 of 42

1.

Myofibril breakdown during atrophy is a delayed response requiring the transcription factor PAX4 and desmin depolymerization.

Volodin A, Kosti I, Goldberg AL, Cohen S.

Proc Natl Acad Sci U S A. 2017 Feb 21;114(8):E1375-E1384. doi: 10.1073/pnas.1612988114. Epub 2017 Jan 17.

PMID:
28096335
2.

The Cataract-linked Mutant Connexin50D47A Causes Endoplasmic Reticulum Stress in Mouse Lenses.

Berthoud VM, Minogue PJ, Lambert PA, Snabb JI, Beyer EC.

J Biol Chem. 2016 Aug 19;291(34):17569-78. doi: 10.1074/jbc.M115.707950. Epub 2016 Jun 17.

PMID:
27317663
3.

DAAM1 and DAAM2 are co-required for myocardial maturation and sarcomere assembly.

Ajima R, Bisson JA, Helt JC, Nakaya MA, Habas R, Tessarollo L, He X, Morrisey EE, Yamaguchi TP, Cohen ED.

Dev Biol. 2015 Dec 1;408(1):126-39. doi: 10.1016/j.ydbio.2015.10.003. Epub 2015 Oct 23.

4.

Pregnancy in Desmin-Related Cardiomyopathy.

Faksh A, Codsi E, Barsoum MK, Brost BC.

AJP Rep. 2015 Oct;5(2):e165-7. doi: 10.1055/s-0035-1555130. Epub 2015 Jun 12.

5.

Abnormal accumulation of desmin in gastrocnemius myofibers of patients with peripheral artery disease: associations with altered myofiber morphology and density, mitochondrial dysfunction and impaired limb function.

Koutakis P, Miserlis D, Myers SA, Kim JK, Zhu Z, Papoutsi E, Swanson SA, Haynatzki G, Ha DM, Carpenter LA, McComb RD, Johanning JM, Casale GP, Pipinos II.

J Histochem Cytochem. 2015 Apr;63(4):256-69. doi: 10.1369/0022155415569348. Epub 2015 Jan 9.

6.

Distal myopathies.

Dimachkie MM, Barohn RJ.

Neurol Clin. 2014 Aug;32(3):817-42, x. doi: 10.1016/j.ncl.2014.04.004. Epub 2014 May 15. Review.

7.

Connexin50D47A decreases levels of fiber cell connexins and impairs lens fiber cell differentiation.

Berthoud VM, Minogue PJ, Yu H, Schroeder R, Snabb JI, Beyer EC.

Invest Ophthalmol Vis Sci. 2013 Nov 19;54(12):7614-22. doi: 10.1167/iovs.13-13188.

8.

N-acetyl-L-cysteine prevents stress-induced desmin aggregation in cellular models of desminopathy.

Segard BD, Delort F, Bailleux V, Simon S, Leccia E, Gausseres B, Briki F, Vicart P, Batonnet-Pichon S.

PLoS One. 2013 Oct 1;8(10):e76361. doi: 10.1371/journal.pone.0076361. eCollection 2013.

9.

Detection of anticonductive tissue autoantibodies in a patient with chronic intestinal pseudo-obstruction and sick sinus syndrome.

Caio G, Volta U, Cerrato E, Clavenzani P, Montali N, Cogliandro R, Stanghellini V, Golzio PG, Gaita F, Farrugia G, De Giorgio R.

Eur J Gastroenterol Hepatol. 2013 Nov;25(11):1358-63. doi: 10.1097/MEG.0b013e3283632dbc.

10.

Differential proteomic analysis of abnormal intramyoplasmic aggregates in desminopathy.

Maerkens A, Kley RA, Olivé M, Theis V, van der Ven PF, Reimann J, Milting H, Schreiner A, Uszkoreit J, Eisenacher M, Barkovits K, Güttsches AK, Tonillo J, Kuhlmann K, Meyer HE, Schröder R, Tegenthoff M, Fürst DO, Müller T, Goldfarb LG, Vorgerd M, Marcus K.

J Proteomics. 2013 Sep 2;90:14-27. doi: 10.1016/j.jprot.2013.04.026. Epub 2013 Apr 30.

11.

Cell stress molecules in the skeletal muscle of GNE myopathy.

Fischer C, Kleinschnitz K, Wrede A, Muth I, Kruse N, Nishino I, Schmidt J.

BMC Neurol. 2013 Mar 12;13:24. doi: 10.1186/1471-2377-13-24.

12.

Desminopathies: pathology and mechanisms.

Clemen CS, Herrmann H, Strelkov SV, Schröder R.

Acta Neuropathol. 2013 Jan;125(1):47-75. doi: 10.1007/s00401-012-1057-6. Epub 2012 Nov 11. Review.

13.

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.

14.

Desmin A213V substitution represents a rare polymorphism but not a mutation and is more prevalent in patients with heart dilation of various origins.

Kostareva A, Sjoberg G, Gudkova A, Smolina N, Semernin E, Shlyakhto E, Sejersen T.

Acta Myol. 2011 Jun;30(1):42-5.

15.

Desmin-related cardiomyopathy: an unfolding story.

McLendon PM, Robbins J.

Am J Physiol Heart Circ Physiol. 2011 Oct;301(4):H1220-8. doi: 10.1152/ajpheart.00601.2011. Epub 2011 Jul 22. Review.

16.

A complex phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss is linked to an autosomal dominant mutation in MYH14.

Choi BO, Kang SH, Hyun YS, Kanwal S, Park SW, Koo H, Kim SB, Choi YC, Yoo JH, Kim JW, Park KD, Choi KG, Kim SJ, Züchner S, Chung KW.

Hum Mutat. 2011 Jun;32(6):669-77. doi: 10.1002/humu.21488. Epub 2011 Apr 7.

17.

Nebulin regulates actin filament lengths by a stabilization mechanism.

Pappas CT, Krieg PA, Gregorio CC.

J Cell Biol. 2010 May 31;189(5):859-70. doi: 10.1083/jcb.201001043. Epub 2010 May 24.

18.

A novel custom resequencing array for dilated cardiomyopathy.

Zimmerman RS, Cox S, Lakdawala NK, Cirino A, Mancini-DiNardo D, Clark E, Leon A, Duffy E, White E, Baxter S, Alaamery M, Farwell L, Weiss S, Seidman CE, Seidman JG, Ho CY, Rehm HL, Funke BH.

Genet Med. 2010 May;12(5):268-78. doi: 10.1097/GIM.0b013e3181d6f7c0.

19.

Lower limb radiology of distal myopathy due to the S60F myotilin mutation.

McNeill A, Birchall D, Straub V, Goldfarb L, Reilich P, Walter MC, Schramm N, Lochmüller H, Chinnery PF.

Eur Neurol. 2009;62(3):161-6. doi: 10.1159/000227266. Epub 2009 Jul 3.

20.

Tragedy in a heartbeat: malfunctioning desmin causes skeletal and cardiac muscle disease.

Goldfarb LG, Dalakas MC.

J Clin Invest. 2009 Jul;119(7):1806-13. doi: 10.1172/JCI38027. Epub 2009 Jul 1. Review. Erratum in: J Clin Invest. 2011 Jan 4;121(1):455.

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