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Unbiased yeast screens identify cellular pathways affected in Niemann–Pick disease type C
Niemann–Pick disease type C (NPC) is a rare lysosomal storage disease caused by mutations in either the NPC1 or NPC2 genes. Mutations in the NPC1 gene lead to the majority of clinical cases (95%); however, the function of NPC1 remains unknown. To gain further insights into the biology of NPC1, we to...
Autores principales: | Colaco, Alexandria, Fernández-Suárez, María E, Shepherd, Dawn, Gal, Lihi, Bibi, Chen, Chuartzman, Silvia, Diot, Alan, Morten, Karl, Eden, Emily, Porter, Forbes D, Poulton, Joanna, Platt, Nick, Schuldiner, Maya, Platt, Frances M |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Life Science Alliance LLC
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7283134/ https://www.ncbi.nlm.nih.gov/pubmed/32487688 http://dx.doi.org/10.26508/lsa.201800253 |
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