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Novel degenerative and developmental defects in a zebrafish model of mucolipidosis type IV

Mucolipidosis type IV (MLIV) is a lysosomal storage disease characterized by neurologic and ophthalmologic abnormalities. There is currently no effective treatment. MLIV is caused by mutations in MCOLN1, a lysosomal cation channel from the transient receptor potential (TRP) family. In this study, we...

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Publicado en:Hum Mol Genet
Autores principales: Li, Huiqing, Pei, Wuhong, Vergarajauregui, Sivia, Zerfas, Patricia M., Raben, Nina, Burgess, Shawn M., Puertollano, Rosa
Formato: Artigo
Lenguaje:Inglês
Publicado: Oxford University Press 2017
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC5886147/
https://ncbi.nlm.nih.gov/pubmed/28449103
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddx158
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