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Motor neuronal repletion of the NMJ organizer, Agrin, modulates the severity of the spinal muscular atrophy disease phenotype in model mice

Spinal muscular atrophy (SMA) is a common and often fatal neuromuscular disorder caused by low levels of the Survival Motor Neuron (SMN) protein. Amongst the earliest detectable consequences of SMN deficiency are profound defects of the neuromuscular junctions (NMJs). In model mice these synapses ap...

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Pubblicato in:Hum Mol Genet
Autori principali: Kim, Jeong-Ki, Caine, Charlotte, Awano, Tomoyuki, Herbst, Ruth, Monani, Umrao R.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Oxford University Press 2017
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6074815/
https://ncbi.nlm.nih.gov/pubmed/28379354
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddx124
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