Article
Differential ion selectivity and disease-associated dysfunction of TRPML channels revealed by patient and engineered mutants.
The Journal of biological chemistry - 1 Jan 2026
Rue Braden E, Dischler Anna M, Salvagio Lyndsie A, Zhu Michael, Xu Gabriel, Flores Patrick C, Donovan Chelsea L, Liu Xin, Minckley Taylor F, Agulnek Brooke, Qin Yan
Abstract excerpt
The endolysosomal transient receptor potential mucolipin (TRPML) channels play key roles in regulating lysosomal trafficking, signaling, and function. While mutations in TRPML1 cause mucolipidosis type IV (MLIV), the functional consequences of many disease-associated mutations remain unclear. In this study, we used live-cell confocal imaging in HeLa cells to comprehensively characterize the subcellular...
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