Concepedia

Tibial Muscular Dystrophy Is a Titinopathy Caused by Mutations in TTN, the Gene Encoding the Giant Skeletal-Muscle Protein Titin

Peter Hackman, Anna Vihola, Henna Haravuori, Sylvie Marchand, J. Sarparanta, de Sèze, Siegfried Labeit, Christian Witt, Leena Peltonen, Bjarne Udd

The American Journal of Human Genetics · 2002 · 484 citations · 39 references

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39

Identification of Ubiquitin Ligases Required for Skeletal Muscle Atrophy

Sue C. Bodine, Esther Latres, Susanne Baumhueter et al. · Science · 2001 · 3.5K citations · Full text

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Titins: Giant Proteins in Charge of Muscle Ultrastructure and Elasticity

Siegfried Labeit, Bernhard Kolmerer · Science · 1995 · 1.2K citations

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Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A

Isabelle Richard, Odile Broux, Valéerie Allamand et al. · Cell · 1995 · 997 citations · Full text

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The Complete Gene Sequence of Titin, Expression of an Unusual ≈700-kDa Titin Isoform, and Its Interaction With Obscurin Identify a Novel Z-Line to I-Band Linking System

Marie‐Louise Bang, Thomas Centner, Friderike Fornoff et al. · Circulation Research · 2001 · 716 citations

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Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy

Brenda Gerull, Michael Gramlich, J. Atherton et al. · Nature Genetics · 2002 · 621 citations

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