Impaired myelination and reduced brain ferric iron in the mouse model of mucolipidosis IV

Mucolipidosis type IV (MLIV) is a lysosomal storage disease caused by mutations in the MCOLN1 gene, which encodes the lysosomal transient receptor potential ion channel mucolipin-1 (TRPML1). MLIV causes impaired motor and cognitive development, progressive loss of vision and gastric achlorhydria. Ho...

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Publicat a:Dis Model Mech
Autors principals: Grishchuk, Yulia, Peña, Karina A., Coblentz, Jessica, King, Victoria E., Humphrey, Daniel M., Wang, Shirley L., Kiselyov, Kirill I., Slaugenhaupt, Susan A.
Format: Artigo
Idioma:Inglês
Publicat: The Company of Biologists 2015
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4728313/
https://ncbi.nlm.nih.gov/pubmed/26398942
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1242/dmm.021154
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