Associated Papers
Differential ion selectivity and disease-associated dysfunction of TRPML channels revealed by patient and engineered mutants.
Rue BE et al.
The Journal of Biological Chemistry, 2026
A novel Bi-Allelic pathogenic MCOLN1 variant underlying mucolipidosis type IV in an Iranian family: clinical, genetic, and molecular dynamics-based structural analysis.
Mohsenipour M et al.
Bmc Medical Genomics, 2025
Exploring the impact of variations in the mucolipin1 protein that result in mucolipidosis type 4 using the technique of molecular docking and dynamics simulation.
K P et al.
Journal of Biomolecular Structure & Dynamics, 2024
Mutation of TRPML1 Channel and Pathogenesis of Neurodegeneration in Haimeria.
Gao J et al.
Molecular Neurobiology, 2024
Neuropathophysiology, Genetic Profile, and Clinical Manifestation of Mucolipidosis IV-A Review and Case Series.
Jezela-Stanek A et al.
International Journal of Molecular Sciences, 2020
Cryo-EM structures of the mammalian endo-lysosomal TRPML1 channel elucidate the combined regulation mechanism.
Zhang S et al.
Protein & Cell, 2017
BK channel agonist represents a potential therapeutic approach for lysosomal storage diseases.
Zhong XZ et al.
Scientific Reports, 2016
A small molecule restores function to TRPML1 mutant isoforms responsible for mucolipidosis type IV.
Chen CC et al.
Nature Communications, 2014
Mucolipidosis type IV: an update.
Wakabayashi K et al.
Molecular Genetics and Metabolism, 2011
Cation channel activity of mucolipin-1: the effect of calcium.
Cantiello HF et al.
Pflugers Archiv : European Journal of Physiology, 2005
Molecular pathophysiology of mucolipidosis type IV: pH dysregulation of the mucolipin-1 cation channel.
Raychowdhury MK et al.
Human Molecular Genetics, 2004
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