Brodehl A - Search Results

1

Restrictive Cardiomyopathy is Caused by a Novel Homozygous Desmin (DES) Mutation p.Y122H Leading to a Severe Filament Assembly Defect.

Brodehl A, Pour Hakimi SA, Stanasiuk C, Ratnavadivel S, Hendig D, Gaertner A, Gerull B, Gummert J, Paluszkiewicz L, Milting H. Brodehl A, et al. Genes (Basel). 2019 Nov 11;10(11):918. doi: 10.3390/genes10110918. Genes (Basel). 2019. PMID: 31718026 Free PMC article.

2

Heat shock protein 27 modification is increased in the human diabetic failing heart.

Gawlowski T, Stratmann B, Stork I, Engelbrecht B, Brodehl A, Niehaus K, Körfer R, Tschoepe D, Milting H. Gawlowski T, et al. Among authors: brodehl a. Horm Metab Res. 2009 Aug;41(8):594-9. doi: 10.1055/s-0029-1216374. Epub 2009 Apr 21. Horm Metab Res. 2009. PMID: 19384818

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. Klauke B, et al. Among authors: brodehl a. Hum Mol Genet. 2010 Dec 1;19(23):4595-607. doi: 10.1093/hmg/ddq387. Epub 2010 Sep 9. Hum Mol Genet. 2010. PMID: 20829228

4

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. Brodehl A, et al. J Biol Chem. 2012 May 4;287(19):16047-57. doi: 10.1074/jbc.M111.313841. Epub 2012 Mar 8. J Biol Chem. 2012. PMID: 22403400 Free PMC article.

5

Functional characterization of desmin mutant p.P419S.

Brodehl A, Dieding M, Cakar H, Klauke B, Walhorn V, Gummert J, Anselmetti D, Milting H. Brodehl A, et al. Eur J Hum Genet. 2013 Jun;21(6):589-90. doi: 10.1038/ejhg.2012.212. Epub 2012 Oct 3. Eur J Hum Genet. 2013. PMID: 23032110 Free PMC article. No abstract available.

6

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. Brodehl A, et al. Circ Cardiovasc Genet. 2013 Dec;6(6):615-23. doi: 10.1161/CIRCGENETICS.113.000103. Epub 2013 Nov 7. Circ Cardiovasc Genet. 2013. PMID: 24200904

7

Mutations in FLNC are Associated with Familial Restrictive Cardiomyopathy.

Brodehl A, Ferrier RA, Hamilton SJ, Greenway SC, Brundler MA, Yu W, Gibson WT, McKinnon ML, McGillivray B, Alvarez N, Giuffre M, Schwartzentruber J; FORGE Canada Consortium; Gerull B. Brodehl A, et al. Hum Mutat. 2016 Mar;37(3):269-79. doi: 10.1002/humu.22942. Epub 2016 Jan 8. Hum Mutat. 2016. PMID: 26666891

8

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. Brodehl A, et al. J Mol Cell Cardiol. 2016 Feb;91:207-14. doi: 10.1016/j.yjmcc.2015.12.015. Epub 2015 Dec 23. J Mol Cell Cardiol. 2016. PMID: 26724190

9

Functional studies can contribute to predict the pathogenicity of a novel mutation for cardiomyopathy.

Brodehl A, Milting H. Brodehl A, et al. J Mol Cell Cardiol. 2017 Aug;109:57. doi: 10.1016/j.yjmcc.2017.01.012. Epub 2017 Feb 8. J Mol Cell Cardiol. 2017. PMID: 28189650 No abstract available.

10

Transgenic mice overexpressing desmocollin-2 (DSC2) develop cardiomyopathy associated with myocardial inflammation and fibrotic remodeling.

Brodehl A, Belke DD, Garnett L, Martens K, Abdelfatah N, Rodriguez M, Diao C, Chen YX, Gordon PM, Nygren A, Gerull B. Brodehl A, et al. PLoS One. 2017 Mar 24;12(3):e0174019. doi: 10.1371/journal.pone.0174019. eCollection 2017. PLoS One. 2017. PMID: 28339476 Free PMC article.

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