...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...

..., 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...