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, et al. (2013)
Circulation: Cardiovascular Genetics 6(6): 615-623.
Zeitschriftenaufsatz
| Veröffentlicht | Englisch
Download
Es wurden keine Dateien hochgeladen. Nur Publikationsnachweis!
Autor*in
Brodehl, Andreas;
Dieding, Mareike;
Klauke, Baerbel;
Dec, Eric;
Madaan, Shrestha;
Huang, Taosheng;
Gargus, John;
Fatima, Azra;
Saric, Tomo;
Cakar, Hamdin;
Walhorn, VolkerUniBi ;
Tönsing, KatjaUniBi
Alle
Alle
Abstract / Bemerkung
Background The intermediate filament protein desmin is encoded by the gene DES and contributes to the mechanical stabilization of the striated muscle sarcomere and cell contacts within the cardiac intercalated disk. DES mutations cause severe skeletal and cardiac muscle diseases with heterogeneous phenotypes. Recently, DES mutations were also found in patients with arrhythmogenic right ventricular cardiomyopathy. Currently, the cellular and molecular pathomechanisms of the DES mutations leading to this disease are not exactly known. Methods and Results We identified the 2 novel variants DES-p.A120D (c.359C>A) and DES-p.H326R (c.977A>G), which were characterized by cell culture experiments and atomic force microscopy. Family analysis indicated a broad spectrum of cardiomyopathies with a striking frequency of arrhythmias and sudden cardiac deaths. The in vitro experiments of desmin-p.A120D reveal a severe intrinsic filament formation defect causing cytoplasmic aggregates in cell lines and of the isolated recombinant protein. Model variants of codon 120 indicated that ionic interactions contribute to this filament formation defect. Ex vivo analysis of ventricular tissue slices revealed a loss of desmin staining within the intercalated disk and severe cytoplasmic aggregate formation, whereas z-band localization was not affected. The functional experiments of desmin-p.H326R did not demonstrate any differences from wild type. Conclusions Because of the functional in vivo and in vitro characterization, DES-p.A120D has to be regarded as a pathogenic mutation and DES-p.H326R as a rare variant with unknown significance. Presumably, the loss of the desmin-p. A120D filament localization at the intercalated disk explains its clinical arrhythmogenic potential.
Stichworte
desmin;
desmosomes;
sudden;
death;
cardiomyopathies;
arrhythmias;
cardiac;
intermediate filaments
Erscheinungsjahr
2013
Zeitschriftentitel
Circulation: Cardiovascular Genetics
Band
6
Ausgabe
6
Seite(n)
615-623
ISSN
1942-325X
eISSN
1942-3268
Page URI
https://pub.uni-bielefeld.de/record/2650833
Zitieren
Brodehl A, Dieding M, Klauke B, et al. The Novel Desmin Mutant p.A120D Impairs Filament Formation, Prevents Intercalated Disk Localization, and Causes Sudden Cardiac Death. Circulation: Cardiovascular Genetics. 2013;6(6):615-623.
Brodehl, A., Dieding, M., Klauke, B., Dec, E., Madaan, S., Huang, T., Gargus, J., et al. (2013). The Novel Desmin Mutant p.A120D Impairs Filament Formation, Prevents Intercalated Disk Localization, and Causes Sudden Cardiac Death. Circulation: Cardiovascular Genetics, 6(6), 615-623. doi:10.1161/CIRCGENETICS.113.000103
Brodehl, Andreas, Dieding, Mareike, Klauke, Baerbel, Dec, Eric, Madaan, Shrestha, Huang, Taosheng, Gargus, John, et al. 2013. “The Novel Desmin Mutant p.A120D Impairs Filament Formation, Prevents Intercalated Disk Localization, and Causes Sudden Cardiac Death”. Circulation: Cardiovascular Genetics 6 (6): 615-623.
Brodehl, A., Dieding, M., Klauke, B., Dec, E., Madaan, S., Huang, T., Gargus, J., Fatima, A., Saric, T., Cakar, H., et al. (2013). The Novel Desmin Mutant p.A120D Impairs Filament Formation, Prevents Intercalated Disk Localization, and Causes Sudden Cardiac Death. Circulation: Cardiovascular Genetics 6, 615-623.
Brodehl, A., et al., 2013. The Novel Desmin Mutant p.A120D Impairs Filament Formation, Prevents Intercalated Disk Localization, and Causes Sudden Cardiac Death. Circulation: Cardiovascular Genetics, 6(6), p 615-623.
A. Brodehl, et al., “The Novel Desmin Mutant p.A120D Impairs Filament Formation, Prevents Intercalated Disk Localization, and Causes Sudden Cardiac Death”, Circulation: Cardiovascular Genetics, vol. 6, 2013, pp. 615-623.
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, J.H., Olesen, M.S., Anselmetti, D., Christensen, A.H., Kimonis, V., Milting, H.: The Novel Desmin Mutant p.A120D Impairs Filament Formation, Prevents Intercalated Disk Localization, and Causes Sudden Cardiac Death. Circulation: Cardiovascular Genetics. 6, 615-623 (2013).
Brodehl, Andreas, Dieding, Mareike, Klauke, Baerbel, Dec, Eric, Madaan, Shrestha, Huang, Taosheng, Gargus, John, Fatima, Azra, Saric, Tomo, Cakar, Hamdin, Walhorn, Volker, Tönsing, Katja, Skrzipczyk, Tim, Cebulla, Ramona, Gerdes, Desiree, Schulz, Uwe, Gummert, Jan, Svendsen, Jesper Hastrup, Olesen, Morten Salling, Anselmetti, Dario, Christensen, Alex Horby, Kimonis, Virginia, and Milting, Hendrik. “The Novel Desmin Mutant p.A120D Impairs Filament Formation, Prevents Intercalated Disk Localization, and Causes Sudden Cardiac Death”. Circulation: Cardiovascular Genetics 6.6 (2013): 615-623.
Daten bereitgestellt von European Bioinformatics Institute (EBI)
UNIPROT
15 Einträge gefunden, die diesen Artikel zitieren von denen 10 angezeigt werden
cDNA FLJ61414, highly similar to Desmin (UNIPROT: B4DUI0)
Organism: Homo sapiens
Download in FASTA format
Organism: Homo sapiens
Download in FASTA format
OMIM
2 Einträge gefunden, die diesen Artikel zitieren
10 Zitationen in Europe PMC
Daten bereitgestellt von Europe PubMed Central.
Novel Desmin Mutation p.Glu401Asp Impairs Filament Formation, Disrupts Cell Membrane Integrity, and Causes Severe Arrhythmogenic Left Ventricular Cardiomyopathy/Dysplasia.
Bermúdez-Jiménez FJ, Carriel V, Brodehl A, Alaminos M, Campos A, Schirmer I, Milting H, Abril BÁ, Álvarez M, López-Fernández S, García-Giustiniani D, Monserrat L, Tercedor L, Jiménez-Jáimez J., Circulation 137(15), 2018
PMID: 29212896
Bermúdez-Jiménez FJ, Carriel V, Brodehl A, Alaminos M, Campos A, Schirmer I, Milting H, Abril BÁ, Álvarez M, López-Fernández S, García-Giustiniani D, Monserrat L, Tercedor L, Jiménez-Jáimez J., Circulation 137(15), 2018
PMID: 29212896
Molecular insights into cardiomyopathies associated with desmin (DES) mutations.
Brodehl A, Gaertner-Rommel A, Milting H., Biophys Rev 10(4), 2018
PMID: 29926427
Brodehl A, Gaertner-Rommel A, Milting H., Biophys Rev 10(4), 2018
PMID: 29926427
Intermediate filaments in cardiomyopathy.
Tsikitis M, Galata Z, Mavroidis M, Psarras S, Capetanaki Y., Biophys Rev 10(4), 2018
PMID: 30027462
Tsikitis M, Galata Z, Mavroidis M, Psarras S, Capetanaki Y., Biophys Rev 10(4), 2018
PMID: 30027462
Translating emerging molecular genetic insights into clinical practice in inherited cardiomyopathies.
Asatryan B, Medeiros-Domingo A., J Mol Med (Berl) 96(10), 2018
PMID: 30128729
Asatryan B, Medeiros-Domingo A., J Mol Med (Berl) 96(10), 2018
PMID: 30128729
Sudden cardiac death in neuromuscular disorders.
Finsterer J, Stöllberger C, Maeztu C., Int J Cardiol 203(), 2016
PMID: 26551884
Finsterer J, Stöllberger C, Maeztu C., Int J Cardiol 203(), 2016
PMID: 26551884
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., Hum Mutat 37(3), 2016
PMID: 26666891
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., Hum Mutat 37(3), 2016
PMID: 26666891
Genetic variations involved in sudden cardiac death and their associations and interactions.
Wei D, Tao L, Huang M., Heart Fail Rev 21(4), 2016
PMID: 27241195
Wei D, Tao L, Huang M., Heart Fail Rev 21(4), 2016
PMID: 27241195
Complement system modulation as a target for treatment of arrhythmogenic cardiomyopathy.
Mavroidis M, Davos CH, Psarras S, Varela A, C Athanasiadis N, Katsimpoulas M, Kostavasili I, Maasch C, Vater A, van Tintelen JP, Capetanaki Y., Basic Res Cardiol 110(3), 2015
PMID: 25851234
Mavroidis M, Davos CH, Psarras S, Varela A, C Athanasiadis N, Katsimpoulas M, Kostavasili I, Maasch C, Vater A, van Tintelen JP, Capetanaki Y., Basic Res Cardiol 110(3), 2015
PMID: 25851234
From stem cells to cardiomyocytes: the role of forces in cardiac maturation, aging, and disease.
Kaushik G, Engler AJ., Prog Mol Biol Transl Sci 126(), 2014
PMID: 25081620
Kaushik G, Engler AJ., Prog Mol Biol Transl Sci 126(), 2014
PMID: 25081620
Desmosomes in the heart: a review of clinical and mechanistic analyses.
Patel DM, Green KJ., Cell Commun Adhes 21(3), 2014
PMID: 24754498
Patel DM, Green KJ., Cell Commun Adhes 21(3), 2014
PMID: 24754498
53 References
Daten bereitgestellt von Europe PubMed Central.
The two coiled coils in the isolated rod domain of the intermediate filament protein desmin are staggered. A hydrodynamic analysis of tetramers and dimers.
Potschka M, Nave R, Weber K, Geisler N., Eur. J. Biochem. 190(3), 1990
PMID: 2373078
Potschka M, Nave R, Weber K, Geisler N., Eur. J. Biochem. 190(3), 1990
PMID: 2373078
Intermediate filaments: primary determinants of cell architecture and plasticity.
Herrmann H, Strelkov SV, Burkhard P, Aebi U., J. Clin. Invest. 119(7), 2009
PMID: 19587452
Herrmann H, Strelkov SV, Burkhard P, Aebi U., J. Clin. Invest. 119(7), 2009
PMID: 19587452
Missense mutations in desmin associated with familial cardiac and skeletal myopathy.
Goldfarb LG, Park KY, Cervenakova L, Gorokhova S, Lee HS, Vasconcelos O, Nagle JW, Semino-Mora C, Sivakumar K, Dalakas MC., Nat. Genet. 19(4), 1998
PMID: 9697706
Goldfarb LG, Park KY, Cervenakova L, Gorokhova S, Lee HS, Vasconcelos O, Nagle JW, Semino-Mora C, Sivakumar K, Dalakas MC., Nat. Genet. 19(4), 1998
PMID: 9697706
A dysfunctional desmin mutation in a patient with severe generalized myopathy.
Munoz-Marmol AM, Strasser G, Isamat M, Coulombe PA, Yang Y, Roca X, Vela E, Mate JL, Coll J, Fernandez-Figueras MT, Navas-Palacios JJ, Ariza A, Fuchs E., Proc. Natl. Acad. Sci. U.S.A. 95(19), 1998
PMID: 9736733
Munoz-Marmol AM, Strasser G, Isamat M, Coulombe PA, Yang Y, Roca X, Vela E, Mate JL, Coll J, Fernandez-Figueras MT, Navas-Palacios JJ, Ariza A, Fuchs E., Proc. Natl. Acad. Sci. U.S.A. 95(19), 1998
PMID: 9736733
AUTHOR UNKNOWN, 0
Desmin-related myopathy.
van Spaendonck-Zwarts KY, van Hessem L, Jongbloed JD, de Walle HE, Capetanaki Y, van der Kooi AJ, van Langen IM, van den Berg MP, van Tintelen JP., Clin. Genet. 80(4), 2010
PMID: 20718792
van Spaendonck-Zwarts KY, van Hessem L, Jongbloed JD, de Walle HE, Capetanaki Y, van der Kooi AJ, van Langen IM, van den Berg MP, van Tintelen JP., Clin. Genet. 80(4), 2010
PMID: 20718792
A novel heterozygous deletion-insertion mutation in the desmin gene causes complete atrioventricular block and mild myopathy.
Cao L, Hong D, Zhu M, Li X, Wan H, Hong K., Clin. Neuropathol. 32(1), 2013
PMID: 23036309
Cao L, Hong D, Zhu M, Li X, Wan H, Hong K., Clin. Neuropathol. 32(1), 2013
PMID: 23036309
Severe muscle disease-causing desmin mutations interfere with in vitro filament assembly at distinct stages.
Bar H, Mucke N, Kostareva A, Sjoberg G, Aebi U, Herrmann H., Proc. Natl. Acad. Sci. U.S.A. 102(42), 2005
PMID: 16217025
Bar H, Mucke N, Kostareva A, Sjoberg G, Aebi U, Herrmann H., Proc. Natl. Acad. Sci. U.S.A. 102(42), 2005
PMID: 16217025
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 30(1), 2011
PMID: 21842594
Kostareva A, Sjoberg G, Gudkova A, Smolina N, Semernin E, Shlyakhto E, Sejersen T., Acta Myol 30(1), 2011
PMID: 21842594
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 6(11), 2009
PMID: 19879535
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 6(11), 2009
PMID: 19879535
Desmin mutations as a cause of right ventricular heart failure affect the intercalated disks.
Otten E, Asimaki A, Maass A, van Langen IM, van der Wal A, de Jonge N, van den Berg MP, Saffitz JE, Wilde AA, Jongbloed JD, van Tintelen JP., Heart Rhythm 7(8), 2010
PMID: 20423733
Otten E, Asimaki A, Maass A, van Langen IM, van der Wal A, de Jonge N, van den Berg MP, Saffitz JE, Wilde AA, Jongbloed JD, van Tintelen JP., Heart Rhythm 7(8), 2010
PMID: 20423733
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
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
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
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 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
Hedberg C, Melberg A, Kuhl A, Jenne D, Oldfors A., Eur. J. Hum. Genet. 20(9), 2012
PMID: 22395865
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. 111(3), 2012
PMID: 23168288
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. 111(3), 2012
PMID: 23168288
Arrhythmogenic right ventricular cardiomyopathy/dysplasia: a review and update.
Azaouagh A, Churzidse S, Konorza T, Erbel R., Clin Res Cardiol 100(5), 2011
PMID: 21360243
Azaouagh A, Churzidse S, Konorza T, Erbel R., Clin Res Cardiol 100(5), 2011
PMID: 21360243
Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy.
Gerull B, Heuser A, Wichter T, Paul M, Basson CT, McDermott DA, Lerman BB, Markowitz SM, Ellinor PT, MacRae CA, Peters S, Grossmann KS, Drenckhahn J, Michely B, Sasse-Klaassen S, Birchmeier W, Dietz R, Breithardt G, Schulze-Bahr E, Thierfelder L., Nat. Genet. 36(11), 2004
PMID: 15489853
Gerull B, Heuser A, Wichter T, Paul M, Basson CT, McDermott DA, Lerman BB, Markowitz SM, Ellinor PT, MacRae CA, Peters S, Grossmann KS, Drenckhahn J, Michely B, Sasse-Klaassen S, Birchmeier W, Dietz R, Breithardt G, Schulze-Bahr E, Thierfelder L., Nat. Genet. 36(11), 2004
PMID: 15489853
Mutant desmocollin-2 causes arrhythmogenic right ventricular cardiomyopathy.
Heuser A, Plovie ER, Ellinor PT, Grossmann KS, Shin JT, Wichter T, Basson CT, Lerman BB, Sasse-Klaassen S, Thierfelder L, MacRae CA, Gerull B., Am. J. Hum. Genet. 79(6), 2006
PMID: 17186466
Heuser A, Plovie ER, Ellinor PT, Grossmann KS, Shin JT, Wichter T, Basson CT, Lerman BB, Sasse-Klaassen S, Thierfelder L, MacRae CA, Gerull B., Am. J. Hum. Genet. 79(6), 2006
PMID: 17186466
Homozygous founder mutation in desmocollin-2 (DSC2) causes arrhythmogenic cardiomyopathy in the Hutterite population.
Gerull B, Kirchner F, Chong JX, Tagoe J, Chandrasekharan K, Strohm O, Waggoner D, Ober C, Duff HJ., Circ Cardiovasc Genet 6(4), 2013
PMID: 23863954
Gerull B, Kirchner F, Chong JX, Tagoe J, Chandrasekharan K, Strohm O, Waggoner D, Ober C, Duff HJ., Circ Cardiovasc Genet 6(4), 2013
PMID: 23863954
Prevalence of desmosomal protein gene mutations in patients with dilated cardiomyopathy.
Elliott P, O'Mahony C, Syrris P, Evans A, Rivera Sorensen C, Sheppard MN, Carr-White G, Pantazis A, McKenna WJ., Circ Cardiovasc Genet 3(4), 2010
PMID: 20716751
Elliott P, O'Mahony C, Syrris P, Evans A, Rivera Sorensen C, Sheppard MN, Carr-White G, Pantazis A, McKenna WJ., Circ Cardiovasc Genet 3(4), 2010
PMID: 20716751
Functional characterization of desmin mutant p.P419S.
Brodehl A, Dieding M, Cakar H, Klauke B, Walhorn V, Gummert J, Anselmetti D, Milting H., Eur. J. Hum. Genet. 21(6), 2012
PMID: 23032110
Brodehl A, Dieding M, Cakar H, Klauke B, Walhorn V, Gummert J, Anselmetti D, Milting H., Eur. J. Hum. Genet. 21(6), 2012
PMID: 23032110
HL-1 cells: a cardiac muscle cell line that contracts and retains phenotypic characteristics of the adult cardiomyocyte.
Claycomb WC, Lanson NA Jr, Stallworth BS, Egeland DB, Delcarpio JB, Bahinski A, Izzo NJ Jr., Proc. Natl. Acad. Sci. U.S.A. 95(6), 1998
PMID: 9501201
Claycomb WC, Lanson NA Jr, Stallworth BS, Egeland DB, Delcarpio JB, Bahinski A, Izzo NJ Jr., Proc. Natl. Acad. Sci. U.S.A. 95(6), 1998
PMID: 9501201
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
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
In vitro modeling of ryanodine receptor 2 dysfunction using human induced pluripotent stem cells.
Fatima A, Xu G, Shao K, Papadopoulos S, Lehmann M, Arnaiz-Cot JJ, Rosa AO, Nguemo F, Matzkies M, Dittmann S, Stone SL, Linke M, Zechner U, Beyer V, Hennies HC, Rosenkranz S, Klauke B, Parwani AS, Haverkamp W, Pfitzer G, Farr M, Cleemann L, Morad M, Milting H, Hescheler J, Saric T., Cell. Physiol. Biochem. 28(4), 2011
PMID: 22178870
Fatima A, Xu G, Shao K, Papadopoulos S, Lehmann M, Arnaiz-Cot JJ, Rosa AO, Nguemo F, Matzkies M, Dittmann S, Stone SL, Linke M, Zechner U, Beyer V, Hennies HC, Rosenkranz S, Klauke B, Parwani AS, Haverkamp W, Pfitzer G, Farr M, Cleemann L, Morad M, Milting H, Hescheler J, Saric T., Cell. Physiol. Biochem. 28(4), 2011
PMID: 22178870
Exploring the mechanical behavior of single intermediate filaments.
Kreplak L, Bar H, Leterrier JF, Herrmann H, Aebi U., J. Mol. Biol. 354(3), 2005
PMID: 16257415
Kreplak L, Bar H, Leterrier JF, Herrmann H, Aebi U., J. Mol. Biol. 354(3), 2005
PMID: 16257415
Familial evaluation in arrhythmogenic right ventricular cardiomyopathy: impact of genetics and revised task force criteria.
Quarta G, Muir A, Pantazis A, Syrris P, Gehmlich K, Garcia-Pavia P, Ward D, Sen-Chowdhry S, Elliott PM, McKenna WJ., Circulation 123(23), 2011
PMID: 21606390
Quarta G, Muir A, Pantazis A, Syrris P, Gehmlich K, Garcia-Pavia P, Ward D, Sen-Chowdhry S, Elliott PM, McKenna WJ., Circulation 123(23), 2011
PMID: 21606390
Comprehensive desmosome mutation analysis in north americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy.
den Haan AD, Tan BY, Zikusoka MN, Llado LI, Jain R, Daly A, Tichnell C, James C, Amat-Alarcon N, Abraham T, Russell SD, Bluemke DA, Calkins H, Dalal D, Judge DP., Circ Cardiovasc Genet 2(5), 2009
PMID: 20031617
den Haan AD, Tan BY, Zikusoka MN, Llado LI, Jain R, Daly A, Tichnell C, James C, Amat-Alarcon N, Abraham T, Russell SD, Bluemke DA, Calkins H, Dalal D, Judge DP., Circ Cardiovasc Genet 2(5), 2009
PMID: 20031617
A novel desmin mutation leading to autosomal recessive limb-girdle muscular dystrophy: distinct histopathological outcomes compared with desminopathies.
Cetin N, Balci-Hayta B, Gundesli H, Korkusuz P, Purali N, Talim B, Tan E, Selcen D, Erdem-Ozdamar S, Dincer P., J. Med. Genet. 50(7), 2013
PMID: 23687351
Cetin N, Balci-Hayta B, Gundesli H, Korkusuz P, Purali N, Talim B, Tan E, Selcen D, Erdem-Ozdamar S, Dincer P., J. Med. Genet. 50(7), 2013
PMID: 23687351
Exome analysis of two limb-girdle muscular dystrophy families: mutations identified and challenges encountered.
McDonald KK, Stajich J, Blach C, Ashley-Koch AE, Hauser MA., PLoS ONE 7(11), 2012
PMID: 23155419
McDonald KK, Stajich J, Blach C, Ashley-Koch AE, Hauser MA., PLoS ONE 7(11), 2012
PMID: 23155419
Compound heterozygosity of predicted loss-of-function DES variants in a family with recessive desminopathy.
McLaughlin HM, Kelly MA, Hawley PP, Darras BT, Funke B, Picker J., BMC Med. Genet. 14(), 2013
PMID: 23815709
McLaughlin HM, Kelly MA, Hawley PP, Darras BT, Funke B, Picker J., BMC Med. Genet. 14(), 2013
PMID: 23815709
On noxious desmin: functional effects of a novel heterozygous desmin insertion mutation on the extrasarcomeric desmin cytoskeleton and mitochondria.
Schroder R, Goudeau B, Simon MC, Fischer D, Eggermann T, Clemen CS, Li Z, Reimann J, Xue Z, Rudnik-Schoneborn S, Zerres K, van der Ven PF, Furst DO, Kunz WS, Vicart P., Hum. Mol. Genet. 12(6), 2003
PMID: 12620971
Schroder R, Goudeau B, Simon MC, Fischer D, Eggermann T, Clemen CS, Li Z, Reimann J, Xue Z, Rudnik-Schoneborn S, Zerres K, van der Ven PF, Furst DO, Kunz WS, Vicart P., Hum. Mol. Genet. 12(6), 2003
PMID: 12620971
Recessive desmin-null muscular dystrophy with central nuclei and mitochondrial abnormalities.
Henderson M, De Waele L, Hudson J, Eagle M, Sewry C, Marsh J, Charlton R, He L, Blakely EL, Horrocks I, Stewart W, Taylor RW, Longman C, Bushby K, Barresi R., Acta Neuropathol. 125(6), 2013
PMID: 23575897
Henderson M, De Waele L, Hudson J, Eagle M, Sewry C, Marsh J, Charlton R, He L, Blakely EL, Horrocks I, Stewart W, Taylor RW, Longman C, Bushby K, Barresi R., Acta Neuropathol. 125(6), 2013
PMID: 23575897
Separation and characterization of homo and hetero-oligomers of the intermediate filament proteins desmin and vimentin.
Traub P, Kuhn S, Grub S., J. Mol. Biol. 230(3), 1993
PMID: 8478938
Traub P, Kuhn S, Grub S., J. Mol. Biol. 230(3), 1993
PMID: 8478938
A new diagnostic test for arrhythmogenic right ventricular cardiomyopathy.
Asimaki A, Tandri H, Huang H, Halushka MK, Gautam S, Basso C, Thiene G, Tsatsopoulou A, Protonotarios N, McKenna WJ, Calkins H, Saffitz JE., N. Engl. J. Med. 360(11), 2009
PMID: 19279339
Asimaki A, Tandri H, Huang H, Halushka MK, Gautam S, Basso C, Thiene G, Tsatsopoulou A, Protonotarios N, McKenna WJ, Calkins H, Saffitz JE., N. Engl. J. Med. 360(11), 2009
PMID: 19279339
Arrhythmogenic cardiomyopathy and abnormalities of cell-to-cell coupling.
Saffitz JE., Heart Rhythm 6(8 Suppl), 2009
PMID: 19541548
Saffitz JE., Heart Rhythm 6(8 Suppl), 2009
PMID: 19541548
Two related Dutch families with a clinically variable presentation of cardioskeletal myopathy caused by a novel S13F mutation in the desmin gene.
Bergman JE, Veenstra-Knol HE, van Essen AJ, van Ravenswaaij CM, den Dunnen WF, van den Wijngaard A, van Tintelen JP., Eur J Med Genet 50(5), 2007
PMID: 17720647
Bergman JE, Veenstra-Knol HE, van Essen AJ, van Ravenswaaij CM, den Dunnen WF, van den Wijngaard A, van Tintelen JP., Eur J Med Genet 50(5), 2007
PMID: 17720647
Characterization of the head-to-tail overlap complexes formed by human lamin A, B1 and B2 "half-minilamin" dimers.
Kapinos LE, Schumacher J, Mucke N, Machaidze G, Burkhard P, Aebi U, Strelkov SV, Herrmann H., J. Mol. Biol. 396(3), 2009
PMID: 20004208
Kapinos LE, Schumacher J, Mucke N, Machaidze G, Burkhard P, Aebi U, Strelkov SV, Herrmann H., J. Mol. Biol. 396(3), 2009
PMID: 20004208
Characterization of the Hydra lamin and its gene: A molecular phylogeny of metazoan lamins.
Erber A, Riemer D, Hofemeister H, Bovenschulte M, Stick R, Panopoulou G, Lehrach H, Weber K., J. Mol. Evol. 49(2), 1999
PMID: 10441677
Erber A, Riemer D, Hofemeister H, Bovenschulte M, Stick R, Panopoulou G, Lehrach H, Weber K., J. Mol. Evol. 49(2), 1999
PMID: 10441677
History and phylogeny of intermediate filaments: now in insects.
Herrmann H, Strelkov SV., BMC Biol. 9(), 2011
PMID: 21356127
Herrmann H, Strelkov SV., BMC Biol. 9(), 2011
PMID: 21356127
Mutations in KRT5 and KRT14 cause epidermolysis bullosa simplex in 75% of the patients.
Bolling MC, Lemmink HH, Jansen GH, Jonkman MF., Br. J. Dermatol. 164(3), 2011
PMID: 21375516
Bolling MC, Lemmink HH, Jansen GH, Jonkman MF., Br. J. Dermatol. 164(3), 2011
PMID: 21375516
Novel keratin 5 and 14 gene mutations in patients with epidermolysis bullosa simplex from Poland.
Hamada T, Kawano Y, Szczecinska W, Wozniak K, Yasumoto S, Kowalewski C, Hashimoto T., Arch. Dermatol. Res. 296(12), 2005
PMID: 15827748
Hamada T, Kawano Y, Szczecinska W, Wozniak K, Yasumoto S, Kowalewski C, Hashimoto T., Arch. Dermatol. Res. 296(12), 2005
PMID: 15827748
An alanine to proline mutation in the 1A rod domain of the keratin 10 chain in epidermolytic hyperkeratosis.
Yang JM, Yoneda K, Morita E, Imamura S, Nam K, Lee ES, Steinert PM., J. Invest. Dermatol. 109(5), 1997
PMID: 9347802
Yang JM, Yoneda K, Morita E, Imamura S, Nam K, Lee ES, Steinert PM., J. Invest. Dermatol. 109(5), 1997
PMID: 9347802
Heterozygous Ala137Pro mutation in keratin 12 gene found in Japanese with Meesmann's corneal dystrophy.
Takahashi K, Takahashi K, Murakami A, Okisaka S, Kimura T, Kanai A., Jpn. J. Ophthalmol. 46(6), 2002
PMID: 12543196
Takahashi K, Takahashi K, Murakami A, Okisaka S, Kimura T, Kanai A., Jpn. J. Ophthalmol. 46(6), 2002
PMID: 12543196
A novel missense mutation, A118E, in the helix initiation motif of the type II hair cortex keratin hHb6, causing monilethrix.
Winter H, Vabres P, Larregue M, Rogers MA, Schweizer J., Hum. Hered. 50(5), 2000
PMID: 10878478
Winter H, Vabres P, Larregue M, Rogers MA, Schweizer J., Hum. Hered. 50(5), 2000
PMID: 10878478
Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy.
Brown CA, Lanning RW, McKinney KQ, Salvino AR, Cherniske E, Crowe CA, Darras BT, Gominak S, Greenberg CR, Grosmann C, Heydemann P, Mendell JR, Pober BR, Sasaki T, Shapiro F, Simpson DA, Suchowersky O, Spence JE., Am. J. Med. Genet. 102(4), 2001
PMID: 11503164
Brown CA, Lanning RW, McKinney KQ, Salvino AR, Cherniske E, Crowe CA, Darras BT, Gominak S, Greenberg CR, Grosmann C, Heydemann P, Mendell JR, Pober BR, Sasaki T, Shapiro F, Simpson DA, Suchowersky O, Spence JE., Am. J. Med. Genet. 102(4), 2001
PMID: 11503164
New insights into the molecular basis of desmoplakin- and desmin-related cardiomyopathies.
Lapouge K, Fontao L, Champliaud MF, Jaunin F, Frias MA, Favre B, Paulin D, Green KJ, Borradori L., J. Cell. Sci. 119(Pt 23), 2006
PMID: 17105773
Lapouge K, Fontao L, Champliaud MF, Jaunin F, Frias MA, Favre B, Paulin D, Green KJ, Borradori L., J. Cell. Sci. 119(Pt 23), 2006
PMID: 17105773
A missense mutation in desmin tail domain linked to human dilated cardiomyopathy promotes cleavage of the head domain and abolishes its Z-disc localization.
Mavroidis M, Panagopoulou P, Kostavasili I, Weisleder N, Capetanaki Y., FASEB J. 22(9), 2008
PMID: 18539904
Mavroidis M, Panagopoulou P, Kostavasili I, Weisleder N, Capetanaki Y., FASEB J. 22(9), 2008
PMID: 18539904
Desmin accumulation restrictive cardiomyopathy and atrioventricular block associated with desmin gene defects.
Arbustini E, Pasotti M, Pilotto A, Pellegrini C, Grasso M, Previtali S, Repetto A, Bellini O, Azan G, Scaffino M, Campana C, Piccolo G, Vigano M, Tavazzi L., Eur. J. Heart Fail. 8(5), 2005
PMID: 16376610
Arbustini E, Pasotti M, Pilotto A, Pellegrini C, Grasso M, Previtali S, Repetto A, Bellini O, Azan G, Scaffino M, Campana C, Piccolo G, Vigano M, Tavazzi L., Eur. J. Heart Fail. 8(5), 2005
PMID: 16376610
Is it time for plakoglobin immune-histochemical diagnostic test for arrhythmogenic cardiomyopathy in the routine pathology practice?
Basso C, Pilichou K, Thiene G., Cardiovasc. Pathol. 22(5), 2013
PMID: 23856337
Basso C, Pilichou K, Thiene G., Cardiovasc. Pathol. 22(5), 2013
PMID: 23856337
Quantitative Immunohistochemistry of Desmosomal Proteins (Plakoglobin, Desmoplakin and Plakophilin), Connexin-43, and N-cadherin in Arrhythmogenic Cardiomyopathy: An Autopsy Study.
Tavora F, Zhang M, Cresswell N, Li L, Fowler D, Franco M, Burke A., Open Cardiovasc Med J 7(), 2013
PMID: 23802019
Tavora F, Zhang M, Cresswell N, Li L, Fowler D, Franco M, Burke A., Open Cardiovasc Med J 7(), 2013
PMID: 23802019
Connexin expression patterns in arrhythmogenic right ventricular cardiomyopathy.
Paul M, Wichter T, Gerss J, Arps V, Schulze-Bahr E, Robenek H, Breithardt G, Weissen-Plenz G., Am. J. Cardiol. 111(10), 2013
PMID: 23465095
Paul M, Wichter T, Gerss J, Arps V, Schulze-Bahr E, Robenek H, Breithardt G, Weissen-Plenz G., Am. J. Cardiol. 111(10), 2013
PMID: 23465095
Site-directed spin labeling and electron paramagnetic resonance determination of vimentin head domain structure.
Aziz A, Hess JF, Budamagunta MS, Voss JC, Fitzgerald PG., J. Biol. Chem. 285(20), 2010
PMID: 20231271
Aziz A, Hess JF, Budamagunta MS, Voss JC, Fitzgerald PG., J. Biol. Chem. 285(20), 2010
PMID: 20231271
Characterization of structural changes in vimentin bearing an epidermolysis bullosa simplex-like mutation using site-directed spin labeling and electron paramagnetic resonance.
Hess JF, Budamagunta MS, FitzGerald PG, Voss JC., J. Biol. Chem. 280(3), 2004
PMID: 15556930
Hess JF, Budamagunta MS, FitzGerald PG, Voss JC., J. Biol. Chem. 280(3), 2004
PMID: 15556930
Export
Markieren/ Markierung löschen
Markierte Publikationen
Web of Science
Dieser Datensatz im Web of Science®Quellen
PMID: 24200904
PubMed | Europe PMC
Suchen in