Z-disc-associated, Alternatively Spliced, PDZ Motif-containing Protein (ZASP) Mutations in the Actin-binding Domain Cause Disruption of Skeletal Muscle Actin Filaments in Myofibrillar Myopathy

The core of skeletal muscle Z-discs consists of actin filaments from adjacent sarcomeres that are cross-linked by α-actinin homodimers. Z-disc-associated, alternatively spliced, PDZ motif-containing protein (ZASP)/Cypher interacts with α-actinin, myotilin, and other Z-disc proteins via the PDZ domai...

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Hlavní autoři: Lin, Xiaoyan, Ruiz, Janelle, Bajraktari, Ilda, Ohman, Rachel, Banerjee, Soojay, Gribble, Katherine, Kaufman, Joshua D., Wingfield, Paul T., Griggs, Robert C., Fischbeck, Kenneth H., Mankodi, Ami
Médium: Artigo
Jazyk:Inglês
Vydáno: American Society for Biochemistry and Molecular Biology 2014
Témata:
Molecular Bases of Disease
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4036366/
https://ncbi.nlm.nih.gov/pubmed/24668811
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M114.550418
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