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The Power of Human Protective Modifiers: PLS3 and CORO1C Unravel Impaired Endocytosis in Spinal Muscular Atrophy and Rescue SMA Phenotype
Homozygous loss of SMN1 causes spinal muscular atrophy (SMA), the most common and devastating childhood genetic motor-neuron disease. The copy gene SMN2 produces only ∼10% functional SMN protein, insufficient to counteract development of SMA. In contrast, the human genetic modifier plastin 3 (PLS3),...
Tallennettuna:
| Julkaisussa: | Am J Hum Genet |
|---|---|
| Päätekijät: | , , , , , , , , , , , , , , , , , , , |
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
Elsevier
2016
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| Aiheet: | |
| Linkit: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5011078/ https://ncbi.nlm.nih.gov/pubmed/27499521 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2016.07.014 |
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