Article
Functional multimerization of mucolipin channel proteins.
Journal of cellular physiology - 1 Feb 2010
Curcio-Morelli Cyntia, Zhang Peng, Venugopal Bhuvarahamurthy, Charles Florie A, Browning Marsha F, Cantiello Horacio F, Slaugenhaupt Susan A
Abstract excerpt
MCOLN1 encodes mucolipin-1 (TRPML1), a member of the transient receptor potential TRPML subfamily of channel proteins. Mutations in MCOLN1 cause mucolipidosis-type IV (MLIV), a lysosomal storage disorder characterized by severe neurologic, ophthalmologic, and gastrointestinal abnormalities. Along with TRPML1, there are two other TRPML family members, mucolipin-2 (TRPML2) and mucolipin-3 (TRPML3). In this study,...
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