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Keywords: mucolipin
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Biochem Soc Trans (2010) 38 (6): 1432–1435.
Published: 24 November 2010
...Gideon Bach; David A. Zeevi; Ayala Frumkin; Aviram Kogot-Levin MLIV (mucolipidosis type IV) is a neurodegenerative lysosomal storage disorder caused by mutations in MCOLN1 , a gene that encodes TRPML1 (mucolipin-1), a member of the TRPML (transient receptor potential mucolipin) cation channels. Two...
Biochem Soc Trans (2007) 35 (5): 1088–1091.
Published: 25 October 2007
..., mutations in the gene encoding mucolipin-1, a lysosomal non-specific cation channel, result in abnormalities in lipid traffic and are associated with the autosomal recessive lysosomal storage disease MLIV (mucolipidosis type IV). 1 To whom correspondence should be addressed (email jpl10@cam.ac.uk...