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CHP1 reduction ameliorates spinal muscular atrophy pathology by restoring calcineurin activity and endocytosis
Autosomal recessive spinal muscular atrophy (SMA), the leading genetic cause of infant lethality, is caused by homozygous loss of the survival motor neuron 1 (SMN1) gene. SMA disease severity inversely correlates with the number of SMN2 copies, which in contrast to SMN1, mainly produce aberrantly sp...
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| Vydáno v: | Brain |
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| Hlavní autoři: | , , , , , , , , , , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Oxford University Press
2018
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6061875/ https://ncbi.nlm.nih.gov/pubmed/29961886 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/awy167 |
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