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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 and Thoms, Sven (2017) Dysferlin mediates membrane tubulation and links T-tubule biogenesis to muscular dystrophy. Journal of Cell Science 130 (5), pp. 841-852.

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Other URL: http://doi.org/10.1242/jcs.198861


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 ...

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Item type:Article
Date:2017
Institutions:Medicine > Lehrstuhl für Innere Medizin II
Identification Number:
ValueType
10.1242/jcs.198861DOI
Keywords:SKELETAL-MUSCLE FIBERS; C2 DOMAINS REVEALS; CENTRONUCLEAR MYOPATHY; AMPHIPHYSIN-2 BIN1; TRANSVERSE TUBULES; BINDING-PROPERTIES; REPAIR; PHOSPHOINOSITIDES; SARCOLEMMA; MUTATIONS; Dysferlin; T-tubule system; Muscular dystrophy; Dysferlinopathy; Phosphatidylinositol 4, 5-bisphosphate; C2 domain protein; Limb-girdle; muscular dystrophy type 2B; Miyoshi myopathy
Dewey Decimal Classification:600 Technology > 610 Medical sciences Medicine
Status:Published
Refereed:Yes, this version has been refereed
Created at the University of Regensburg:Yes
Item ID:38628
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