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

56 Citationer (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.

Originalsprog	Engelsk
Tidsskrift	Circulation. Cardiovascular genetics
Vol/bind	6
Udgave nummer	6
Sider (fra-til)	615-23
Antal sider	9
ISSN	1942-325X
DOI	https://doi.org/10.1161/CIRCGENETICS.113.000103
Status	Udgivet - dec. 2013

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10.1161/CIRCGENETICS.113.000103

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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, bind 6, nr. 6, s. 615-23. https://doi.org/10.1161/CIRCGENETICS.113.000103

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

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.",

author = "Andreas Brodehl and Mareike Dieding and B{\"a}rbel Klauke and Eric Dec and Shrestha Madaan and Taosheng Huang and John Gargus and Azra Fatima and Tomo Saric and Hamdin Cakar and Volker Walhorn and Katja T{\"o}nsing and Tim Skrzipczyk and Ramona Cebulla and D{\'e}sir{\'e}e Gerdes and Uwe Schulz and Jan Gummert and Svendsen, {Jesper Hastrup} and Olesen, {Morten Salling} and Dario Anselmetti and Christensen, {Alex H{\o}rby} and Virginia Kimonis and Hendrik Milting",

year = "2013",

month = dec,

doi = "10.1161/CIRCGENETICS.113.000103",

language = "English",

volume = "6",

pages = "615--23",

journal = "Circulation. Cardiovascular genetics",

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TY - JOUR

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

Y1 - 2013/12

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.

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

Abstract

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