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Target Genes of Neuron-Restrictive Silencer Factor Are Abnormally Up-Regulated in Human Myotilinopathy

Myotilinopathy is a subgroup of myofibrillar myopathies caused by mutations in the myotilin gene in which there is aggregation of abnormal cytoskeletal proteins and ubiquitin. We report here on the accumulation of neuron-related proteins such as ubiquitin carboxy-terminal hydrolase L1 (UCHL1), synap...

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Bibliografische gegevens
Hoofdauteurs: Barrachina, Marta, Moreno, Jesús, Juvés, Salvador, Moreno, Dolores, Olivé, Montse, Ferrer, Isidre
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: American Society for Investigative Pathology 2007
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Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1988880/
https://ncbi.nlm.nih.gov/pubmed/17823282
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2353/ajpath.2007.070520
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