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Dysferlin mediates membrane tubulation and links T-tubule biogenesis to muscular dystrophy

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Dysferlin mediates membrane tubulation and links T-tubule biogenesis to muscular dystrophy. / Hofhuis, Julia; Bersch, Kristina; Büssenschütt, Ronja; Drzymalski, Marzena; Liebetanz, David; Nikolaev, Viacheslav O; Wagner, Stefan; Maier, Lars S; Gärtner, Jutta; Klinge, Lars; Thoms, Sven.

in: J CELL SCI, Jahrgang 130, Nr. 5, 01.03.2017, S. 841-852.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Hofhuis, J, Bersch, K, Büssenschütt, R, Drzymalski, M, Liebetanz, D, Nikolaev, VO, Wagner, S, Maier, LS, Gärtner, J, Klinge, L & Thoms, S 2017, 'Dysferlin mediates membrane tubulation and links T-tubule biogenesis to muscular dystrophy', J CELL SCI, Jg. 130, Nr. 5, S. 841-852. https://doi.org/10.1242/jcs.198861

APA

Hofhuis, J., Bersch, K., Büssenschütt, R., Drzymalski, M., Liebetanz, D., Nikolaev, V. O., Wagner, S., Maier, L. S., Gärtner, J., Klinge, L., & Thoms, S. (2017). Dysferlin mediates membrane tubulation and links T-tubule biogenesis to muscular dystrophy. J CELL SCI, 130(5), 841-852. https://doi.org/10.1242/jcs.198861

Vancouver

Hofhuis J, Bersch K, Büssenschütt R, Drzymalski M, Liebetanz D, Nikolaev VO et al. Dysferlin mediates membrane tubulation and links T-tubule biogenesis to muscular dystrophy. J CELL SCI. 2017 Mär 1;130(5):841-852. https://doi.org/10.1242/jcs.198861

Bibtex

@article{e72172af29d84ab692a76542ccb2b403,
title = "Dysferlin mediates membrane tubulation and links T-tubule biogenesis to muscular dystrophy",
abstract = "The multi-C2 domain protein dysferlin localizes to the plasma membrane and the T-tubule system in skeletal muscle; however, its physiological mode of action is unknown. Mutations in the DYSF gene lead to autosomal recessive limb-girdle muscular dystrophy type 2B and Miyoshi myopathy. Here, we show that dysferlin has membrane tubulating capacity and that it shapes the T-tubule system. Dysferlin tubulates liposomes, generates a T-tubule-like membrane system in non-muscle cells, and links the recruitment of phosphatidylinositol 4,5-bisphosphate to the biogenesis of the T-tubule system. Pathogenic mutant forms interfere with all of these functions, indicating that muscular wasting and dystrophy are caused by the dysferlin mutants' inability to form a functional T-tubule membrane system.",
keywords = "Journal Article",
author = "Julia Hofhuis and Kristina Bersch and Ronja B{\"u}ssensch{\"u}tt and Marzena Drzymalski and David Liebetanz and Nikolaev, {Viacheslav O} and Stefan Wagner and Maier, {Lars S} and Jutta G{\"a}rtner and Lars Klinge and Sven Thoms",
note = "{\textcopyright} 2017. Published by The Company of Biologists Ltd.",
year = "2017",
month = mar,
day = "1",
doi = "10.1242/jcs.198861",
language = "English",
volume = "130",
pages = "841--852",
journal = "J CELL SCI",
issn = "0021-9533",
publisher = "Company of Biologists Ltd",
number = "5",

}

RIS

TY - JOUR

T1 - Dysferlin mediates membrane tubulation and links T-tubule biogenesis to muscular dystrophy

AU - Hofhuis, Julia

AU - Bersch, Kristina

AU - Büssenschütt, Ronja

AU - Drzymalski, Marzena

AU - Liebetanz, David

AU - Nikolaev, Viacheslav O

AU - Wagner, Stefan

AU - Maier, Lars S

AU - Gärtner, Jutta

AU - Klinge, Lars

AU - Thoms, Sven

N1 - © 2017. Published by The Company of Biologists Ltd.

PY - 2017/3/1

Y1 - 2017/3/1

N2 - The multi-C2 domain protein dysferlin localizes to the plasma membrane and the T-tubule system in skeletal muscle; however, its physiological mode of action is unknown. Mutations in the DYSF gene lead to autosomal recessive limb-girdle muscular dystrophy type 2B and Miyoshi myopathy. Here, we show that dysferlin has membrane tubulating capacity and that it shapes the T-tubule system. Dysferlin tubulates liposomes, generates a T-tubule-like membrane system in non-muscle cells, and links the recruitment of phosphatidylinositol 4,5-bisphosphate to the biogenesis of the T-tubule system. Pathogenic mutant forms interfere with all of these functions, indicating that muscular wasting and dystrophy are caused by the dysferlin mutants' inability to form a functional T-tubule membrane system.

AB - The multi-C2 domain protein dysferlin localizes to the plasma membrane and the T-tubule system in skeletal muscle; however, its physiological mode of action is unknown. Mutations in the DYSF gene lead to autosomal recessive limb-girdle muscular dystrophy type 2B and Miyoshi myopathy. Here, we show that dysferlin has membrane tubulating capacity and that it shapes the T-tubule system. Dysferlin tubulates liposomes, generates a T-tubule-like membrane system in non-muscle cells, and links the recruitment of phosphatidylinositol 4,5-bisphosphate to the biogenesis of the T-tubule system. Pathogenic mutant forms interfere with all of these functions, indicating that muscular wasting and dystrophy are caused by the dysferlin mutants' inability to form a functional T-tubule membrane system.

KW - Journal Article

U2 - 10.1242/jcs.198861

DO - 10.1242/jcs.198861

M3 - SCORING: Journal article

C2 - 28104817

VL - 130

SP - 841

EP - 852

JO - J CELL SCI

JF - J CELL SCI

SN - 0021-9533

IS - 5

ER -