Functional characterization of desmin mutant p.P419S

Brodehl A, Dieding M, Cakar H, Klauke B, Walhorn V, Gummert J, Anselmetti D, Milting H (2013)
European journal of human genetics : EJHG 21(6): 589-590.

Zeitschriftenaufsatz | Veröffentlicht | Englisch
 
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DOI
Autor*in
Brodehl, Andreas; Dieding, Mareike; Cakar, Hamdin; Klauke, Bärbel; Walhorn, VolkerUniBi ; Gummert, Jan; Anselmetti, DarioUniBi ; Milting, Hendrik
Einrichtung
Fakultät für Physik > AG Biophysik und angewandte Nanowissenschaften
Erscheinungsjahr
2013
Zeitschriftentitel
European journal of human genetics : EJHG
Band
21
Ausgabe
6
Seite(n)
589-590
ISSN
1018-4813
eISSN
1476-5438
Page URI
https://pub.uni-bielefeld.de/record/2584421

Zitieren

Brodehl A, Dieding M, Cakar H, et al. Functional characterization of desmin mutant p.P419S. European journal of human genetics : EJHG. 2013;21(6):589-590.
Brodehl, A., Dieding, M., Cakar, H., Klauke, B., Walhorn, V., Gummert, J., Anselmetti, D., et al. (2013). Functional characterization of desmin mutant p.P419S. European journal of human genetics : EJHG, 21(6), 589-590. doi:10.1038/ejhg.2012.212
Brodehl, Andreas, Dieding, Mareike, Cakar, Hamdin, Klauke, Bärbel, Walhorn, Volker, Gummert, Jan, Anselmetti, Dario, and Milting, Hendrik. 2013. “Functional characterization of desmin mutant p.P419S”. European journal of human genetics : EJHG 21 (6): 589-590.
Brodehl, A., Dieding, M., Cakar, H., Klauke, B., Walhorn, V., Gummert, J., Anselmetti, D., and Milting, H. (2013). Functional characterization of desmin mutant p.P419S. European journal of human genetics : EJHG 21, 589-590.
Brodehl, A., et al., 2013. Functional characterization of desmin mutant p.P419S. European journal of human genetics : EJHG, 21(6), p 589-590.
A. Brodehl, et al., “Functional characterization of desmin mutant p.P419S”, European journal of human genetics : EJHG, vol. 21, 2013, pp. 589-590.
Brodehl, A., Dieding, M., Cakar, H., Klauke, B., Walhorn, V., Gummert, J., Anselmetti, D., Milting, H.: Functional characterization of desmin mutant p.P419S. European journal of human genetics : EJHG. 21, 589-590 (2013).
Brodehl, Andreas, Dieding, Mareike, Cakar, Hamdin, Klauke, Bärbel, Walhorn, Volker, Gummert, Jan, Anselmetti, Dario, and Milting, Hendrik. “Functional characterization of desmin mutant p.P419S”. European journal of human genetics : EJHG 21.6 (2013): 589-590.

4 Zitationen in Europe PMC

Daten bereitgestellt von Europe PubMed Central.

Molecular insights into cardiomyopathies associated with desmin (DES) mutations.
Brodehl A, Gaertner-Rommel A, Milting H., Biophys Rev 10(4), 2018
PMID: 29926427
Reply to Brodehl et al.
Hedberg C, Melberg A, Kuhl A, Jenne D, Oldfors A., Eur J Hum Genet 21(6), 2013
PMID: 23032113
Apertureless scanning near-field optical microscopy of sparsely labeled tobacco mosaic viruses and the intermediate filament desmin.
Harder A, Dieding M, Walhorn V, Degenhard S, Brodehl A, Wege C, Milting H, Anselmetti D., Beilstein J Nanotechnol 4(), 2013
PMID: 24062977
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 6(6), 2013
PMID: 24200904

6 References

Daten bereitgestellt von Europe PubMed Central.

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. 19(23), 2010
PMID: 20829228
Dual color photoactivation localization microscopy of cardiomyopathy-associated desmin mutants.
Brodehl A, Hedde PN, Dieding M, Fatima A, Walhorn V, Gayda S, Saric T, Klauke B, Gummert J, Anselmetti D, Heilemann M, Nienhaus GU, Milting H., J. Biol. Chem. 287(19), 2012
PMID: 22403400
Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES mutation.
Hedberg C, Melberg A, Kuhl A, Jenne D, Oldfors A., Eur. J. Hum. Genet. 20(9), 2012
PMID: 22395865
Desmin myopathy with severe cardiomyopathy in a Uruguayan family due to a codon deletion in a new location within the desmin 1A rod domain.
Vernengo L, Chourbagi O, Panuncio A, Lilienbaum A, Batonnet-Pichon S, Bruston F, Rodrigues-Lima F, Mesa R, Pizzarossa C, Demay L, Richard P, Vicart P, Rodriguez MM., Neuromuscul. Disord. 20(3), 2010
PMID: 20133133
Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy linked to chromosome 10q.
Melberg A, Oldfors A, Blomstrom-Lundqvist C, Stalberg E, Carlsson B, Larrson E, Lidell C, Eeg-Olofsson KE, Wikstrom G, Henriksson G, Dahl N., Ann. Neurol. 46(5), 1999
PMID: 10970245
Phenotypic patterns of desminopathy associated with three novel mutations in the desmin gene.
Olive M, Armstrong J, Miralles F, Pou A, Fardeau M, Gonzalez L, Martinez F, Fischer D, Martinez Matos JA, Shatunov A, Goldfarb L, Ferrer I., Neuromuscul. Disord. 17(6), 2007
PMID: 17418574
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