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Items: 1 to 20 of 123

1.

The novel desmin mutant p.A120D impairs filament formation, prevents intercalated disk localization, and causes sudden cardiac death.

Brodehl A, Dieding M, Klauke B, Dec E, Madaan S, Huang T, Gargus J, Fatima A, Saric T, Cakar H, Walhorn V, Tönsing K, Skrzipczyk T, Cebulla R, Gerdes D, Schulz U, Gummert J, Svendsen JH, Olesen MS, Anselmetti D, Christensen AH, Kimonis V, Milting H.

Circ Cardiovasc Genet. 2013 Dec;6(6):615-23. doi: 10.1161/CIRCGENETICS.113.000103. Epub 2013 Nov 7.

2.

Dual color photoactivation localization microscopy of cardiomyopathy-associated desmin mutants.

Brodehl A, Hedde PN, Dieding M, Fatima A, Walhorn V, Gayda S, Šarić T, Klauke B, Gummert J, Anselmetti D, Heilemann M, Nienhaus GU, Milting H.

J Biol Chem. 2012 May 4;287(19):16047-57. doi: 10.1074/jbc.M111.313841. Epub 2012 Mar 8.

3.

De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy.

Klauke B, Kossmann S, Gaertner A, Brand K, Stork I, Brodehl A, Dieding M, Walhorn V, Anselmetti D, Gerdes D, Bohms B, Schulz U, Zu Knyphausen E, Vorgerd M, Gummert J, Milting H.

Hum Mol Genet. 2010 Dec 1;19(23):4595-607. doi: 10.1093/hmg/ddq387. Epub 2010 Sep 9.

4.

Desmin mutations and arrhythmogenic right ventricular cardiomyopathy.

Lorenzon A, Beffagna G, Bauce B, De Bortoli M, Li Mura IE, Calore M, Dazzo E, Basso C, Nava A, Thiene G, Rampazzo A.

Am J Cardiol. 2013 Feb 1;111(3):400-5. doi: 10.1016/j.amjcard.2012.10.017. Epub 2012 Nov 17.

5.

Functional characterization of the novel DES mutation p.L136P associated with dilated cardiomyopathy reveals a dominant filament assembly defect.

Brodehl A, Dieding M, Biere N, Unger A, Klauke B, Walhorn V, Gummert J, Schulz U, Linke WA, Gerull B, Vorgert M, Anselmetti D, Milting H.

J Mol Cell Cardiol. 2016 Feb;91:207-14. doi: 10.1016/j.yjmcc.2015.12.015. Epub 2015 Dec 23.

PMID:
26724190
6.

Pathogenic effects of a novel heterozygous R350P desmin mutation on the assembly of desmin intermediate filaments in vivo and in vitro.

Bär H, Fischer D, Goudeau B, Kley RA, Clemen CS, Vicart P, Herrmann H, Vorgerd M, Schröder R.

Hum Mol Genet. 2005 May 15;14(10):1251-60. Epub 2005 Mar 30.

7.

Conspicuous involvement of desmin tail mutations in diverse cardiac and skeletal myopathies.

Bär H, Goudeau B, Wälde S, Casteras-Simon M, Mücke N, Shatunov A, Goldberg YP, Clarke C, Holton JL, Eymard B, Katus HA, Fardeau M, Goldfarb L, Vicart P, Herrmann H.

Hum Mutat. 2007 Apr;28(4):374-86.

PMID:
17221859
8.

iASPP, a previously unidentified regulator of desmosomes, prevents arrhythmogenic right ventricular cardiomyopathy (ARVC)-induced sudden death.

Notari M, Hu Y, Sutendra G, Dedeić Z, Lu M, Dupays L, Yavari A, Carr CA, Zhong S, Opel A, Tinker A, Clarke K, Watkins H, Ferguson DJ, Kelsell DP, de Noronha S, Sheppard MN, Hollinshead M, Mohun TJ, Lu X.

Proc Natl Acad Sci U S A. 2015 Mar 3;112(9):E973-81. doi: 10.1073/pnas.1408111112. Epub 2015 Feb 17.

9.

Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene.

Dalakas MC, Park KY, Semino-Mora C, Lee HS, Sivakumar K, Goldfarb LG.

N Engl J Med. 2000 Mar 16;342(11):770-80.

10.

Structural and functional analysis of a new desmin variant causing desmin-related myopathy.

Goudeau B, Dagvadorj A, Rodrigues-Lima F, Nédellec P, Casteras-Simon M, Perret E, Langlois S, Goldfarb L, Vicart P.

Hum Mutat. 2001 Nov;18(5):388-96.

PMID:
11668632
11.

Severe muscle disease-causing desmin mutations interfere with in vitro filament assembly at distinct stages.

Bär H, Mücke N, Kostareva A, Sjöberg G, Aebi U, Herrmann H.

Proc Natl Acad Sci U S A. 2005 Oct 18;102(42):15099-104. Epub 2005 Oct 10.

12.

Disease mutations in the "head" domain of the extra-sarcomeric protein desmin distinctly alter its assembly and network-forming properties.

Sharma S, Mücke N, Katus HA, Herrmann H, Bär H.

J Mol Med (Berl). 2009 Dec;87(12):1207-19. doi: 10.1007/s00109-009-0521-9. Epub 2009 Sep 8.

PMID:
19763525
13.

Respiratory insufficiency in desminopathy patients caused by introduction of proline residues in desmin c-terminal alpha-helical segment.

Dagvadorj A, Goudeau B, Hilton-Jones D, Blancato JK, Shatunov A, Simon-Casteras M, Squier W, Nagle JW, Goldfarb LG, Vicart P.

Muscle Nerve. 2003 Jun;27(6):669-75.

PMID:
12766977
14.

Severe cardiac phenotype with right ventricular predominance in a large cohort of patients with a single missense mutation in the DES gene.

van Tintelen JP, Van Gelder IC, Asimaki A, Suurmeijer AJ, Wiesfeld AC, Jongbloed JD, van den Wijngaard A, Kuks JB, van Spaendonck-Zwarts KY, Notermans N, Boven L, van den Heuvel F, Veenstra-Knol HE, Saffitz JE, Hofstra RM, van den Berg MP.

Heart Rhythm. 2009 Nov;6(11):1574-83. doi: 10.1016/j.hrthm.2009.07.041. Epub 2009 Jul 28.

PMID:
19879535
15.

Impact of disease mutations on the desmin filament assembly process.

Bär H, Mücke N, Ringler P, Müller SA, Kreplak L, Katus HA, Aebi U, Herrmann H.

J Mol Biol. 2006 Jul 28;360(5):1031-42. Epub 2006 Jun 16.

PMID:
16828798
16.

Hearts from mice lacking desmin have a myopathy with impaired active force generation and unaltered wall compliance.

Balogh J, Merisckay M, Li Z, Paulin D, Arner A.

Cardiovasc Res. 2002 Feb 1;53(2):439-50.

17.

A dysfunctional desmin mutation in a patient with severe generalized myopathy.

Muñoz-Mármol AM, Strasser G, Isamat M, Coulombe PA, Yang Y, Roca X, Vela E, Mate JL, Coll J, Fernández-Figueras MT, Navas-Palacios JJ, Ariza A, Fuchs E.

Proc Natl Acad Sci U S A. 1998 Sep 15;95(19):11312-7.

18.

Intermediate filament diseases: desminopathy.

Goldfarb LG, Olivé M, Vicart P, Goebel HH.

Adv Exp Med Biol. 2008;642:131-64.

19.

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.

20.

How much mutant protein is needed to cause a protein aggregate myopathy in vivo? Lessons from an exceptional desminopathy.

Clemen CS, Fischer D, Reimann J, Eichinger L, Müller CR, Müller HD, Goebel HH, Schröder R.

Hum Mutat. 2009 Mar;30(3):E490-9. doi: 10.1002/humu.20941.

PMID:
19105189
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