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Pathogenic effects of agrin V1727F mutation are isoform specific and decrease its expression and affinity for HSPGs and LRP4

Agrin is a large extracellular matrix protein whose isoforms differ in their tissue distribution and function. Motoneuron-derived y+z+ agrin regulates the formation of the neuromuscular junction (NMJ), while y−z− agrin is widely expressed and has diverse functions. Previously we identified a missens...

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Publicat a:Hum Mol Genet
Autors principals: Rudell, John B, Maselli, Ricardo A, Yarov-Yarovoy, Vladimir, Ferns, Michael J
Format: Artigo
Idioma:Inglês
Publicat: Oxford University Press 2019
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6687949/
https://ncbi.nlm.nih.gov/pubmed/30994901
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddz081
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