January 1, 2007Human Mutation

Conspicuous involvement of desmin tail mutations in diverse cardiac and skeletal myopathies

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Population

In vitro models and purified proteins for studying desmin tail mutations in myofibrillar myopathy

Comparison

Desmin tail mutations vs Wild-type desmin

Design

Preclinical

Authors

HBHarald BärBeit Berl College BGBertrand GoudeauCentre National de la Recherche Scientifique SWSarah WäldeUniversity of Göttingen

Discussion

Member takes

Implication

Desmin tail mutants may disrupt filament assembly in desminopathies; animal data leave open human translation and therapeutic targeting.

Structured PICO

Population

In vitro models (transfected C2C12 myoblasts) and purified proteins for studying desmin tail mutations in myofibrillar myopathy

Intervention

Desmin tail mutations (p.T442I, p.R454W, p.S460I, p.E413K, p.K449T, p.I451M, p.V469M)

Comparator

Wild-type desmin

Outcome

In vitro filament formation and generation of ordered cytoskeletal arrayssurrogate

Mutations in the desmin tail domain disrupt filament formation and interactions with wild-type desmin, providing a mechanistic basis for the diverse clinical phenotypes of desminopathies.

Cite This Study

Bär et al. (2007) studied this question.

synapsesocial.com/papers/6a91024857098c5b59c1a797 https://doi.org/10.1002/humu.20459

Topics

Cardiomyopathy

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Conspicuous involvement of desmin tail mutations in diverse cardiac and skeletal myopathies

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Topics

Conspicuous involvement of desmin tail mutations in diverse cardiac and skeletal myopathies

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Also Consider

Topics

Also Consider