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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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Principais autores: Yulia Grishchuk, Karina A. Peña, Jessica Coblentz, Victoria E. King, Daniel M. Humphrey, Shirley L. Wang, Kirill I. Kiselyov, Susan A. Slaugenhaupt
Format: Artigo
Jezik:Inglês
Izdano: The Company of Biologists 2015-12-01
Serija:Disease Models & Mechanisms
Teme:
Online dostop:http://dmm.biologists.org/content/8/12/1591
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