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

Andreas Brodehl; Mareike Dieding; Bärbel Klauke; Eric Dec; Shrestha Madaan; Taosheng Huang; John Gargus; Azra Fatima; Tomo Saric; Hamdin Cakar; Volker Walhorn; Katja Tönsing; Tim Skrzipczyk; Ramona Cebulla; Désirée Gerdes; Uwe Schulz; Jan Gummert; Jesper Hastrup Svendsen; Morten Salling Olesen; Dario Anselmetti; Alex Hørby Christensen; Virginia Kimonis; Hendrik Milting

doi:10.1161/CIRCGENETICS.113.000103

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

Andreas Brodehl, Mareike Dieding, Bärbel Klauke, Eric Dec, Shrestha Madaan, Taosheng Huang, John Gargus, Azra Fatima, Tomo Saric, Hamdin Cakar, Volker Walhorn, Katja Tönsing, Tim Skrzipczyk, Ramona Cebulla, Désirée Gerdes, Uwe Schulz, Jan Gummert, Jesper Hastrup Svendsen, Morten Salling Olesen, Dario AnselmettiAlex Hørby Christensen, Virginia Kimonis, Hendrik Milting

57 Citations (Scopus)

Abstract

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.

Original language	English
Journal	Circulation. Cardiovascular genetics
Volume	6
Issue number	6
Pages (from-to)	615-23
Number of pages	9
ISSN	1942-325X
DOIs	https://doi.org/10.1161/CIRCGENETICS.113.000103
Publication status	Published - Dec 2013

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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., ... Milting, H. (2013). The novel desmin mutant p.A120D impairs filament formation, prevents intercalated disk localization, and causes sudden cardiac death. Circulation. Cardiovascular genetics, 6(6), 615-23. https://doi.org/10.1161/CIRCGENETICS.113.000103

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 2013, 'The novel desmin mutant p.A120D impairs filament formation, prevents intercalated disk localization, and causes sudden cardiac death', Circulation. Cardiovascular genetics, vol. 6, no. 6, pp. 615-23. https://doi.org/10.1161/CIRCGENETICS.113.000103

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abstract = "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.",

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doi = "10.1161/CIRCGENETICS.113.000103",

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T1 - The novel desmin mutant p.A120D impairs filament formation, prevents intercalated disk localization, and causes sudden cardiac death

AU - Brodehl, Andreas

AU - Dieding, Mareike

AU - Klauke, Bärbel

AU - Dec, Eric

AU - Madaan, Shrestha

AU - Huang, Taosheng

AU - Gargus, John

AU - Fatima, Azra

AU - Saric, Tomo

AU - Cakar, Hamdin

AU - Walhorn, Volker

AU - Tönsing, Katja

AU - Skrzipczyk, Tim

AU - Cebulla, Ramona

AU - Gerdes, Désirée

AU - Schulz, Uwe

AU - Gummert, Jan

AU - Svendsen, Jesper Hastrup

AU - Olesen, Morten Salling

AU - Anselmetti, Dario

AU - Christensen, Alex Hørby

AU - Kimonis, Virginia

AU - Milting, Hendrik

PY - 2013/12

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N2 - 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.

AB - 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.

UR - https://www.scopus.com/pages/publications/84892407305

U2 - 10.1161/CIRCGENETICS.113.000103

DO - 10.1161/CIRCGENETICS.113.000103

M3 - Journal article

C2 - 24200904

SN - 1942-325X

VL - 6

SP - 615

EP - 623

JO - Circulation. Cardiovascular genetics

JF - Circulation. Cardiovascular genetics

IS - 6

ER -

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

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