Missense mutations in dystrophin that trigger muscular dystrophy decrease protein stability and lead to cross-β aggregates

A deficiency of functional dystrophin protein in muscle cells causes muscular dystrophy (MD). More than 50% of missense mutations that trigger the disease occur in the N-terminal actin binding domain (N-ABD or ABD1). We examined the effect of four disease-causing mutations—L54R, A168D, A171P, and Y2...

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Bibliografiska uppgifter
Huvudupphovsmän: Singh, Surinder M., Kongari, Narsimulu, Cabello-Villegas, Javier, Mallela, Krishna M. G.
Materialtyp: Artigo
Språk:Inglês
Publicerad: National Academy of Sciences 2010
Ämnen:
Biological Sciences
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC2930578/
https://ncbi.nlm.nih.gov/pubmed/20696926
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1008818107
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