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Spg20−/− mice reveal multimodal functions for Troyer syndrome protein spartin in lipid droplet maintenance, cytokinesis and BMP signaling

Hereditary spastic paraplegias (HSPs; SPG1-48) are inherited neurological disorders characterized by lower extremity spasticity and weakness. Loss-of-function mutations in the SPG20 gene encoding spartin cause autosomal recessive Troyer syndrome (SPG20), which has additional features of short statur...

Täydet tiedot

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Bibliografiset tiedot
Päätekijät: Renvoisé, Benoît, Stadler, Julia, Singh, Rajat, Bakowska, Joanna C., Blackstone, Craig
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Oxford University Press 2012
Aiheet:
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC3406757/
https://ncbi.nlm.nih.gov/pubmed/22619377
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/dds191
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