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
Deciphering Allosteric Disease Mutations Through Intrinsic Dynamics.
Kaskaloglu B et al.
Journal of Molecular Biology, 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
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
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-electron microscopy structure of the lysosomal calcium-permeable channel TRPML3.
Hirschi M et al.
Nature, 2017
Human TRPML1 channel structures in open and closed conformations.
Schmiege P et al.
Nature, 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
Role of TRPML and two-pore channels in endolysosomal cation homeostasis.
Grimm C et al.
The Journal of Pharmacology and Experimental Therapeutics, 2012
Role of protein kinase d in Golgi exit and lysosomal targeting of the transmembrane protein, Mcoln1.
Marks DL et al.
Traffic (copenhagen, Denmark), 2012
Mucolipidosis type IV: an update.
Wakabayashi K et al.
Molecular Genetics and Metabolism, 2011
Functional multimerization of mucolipin channel proteins.
Curcio-Morelli C et al.
Journal of Cellular Physiology, 2010
The type IV mucolipidosis-associated protein TRPML1 is an endolysosomal iron release channel.
Dong XP et al.
Nature, 2008
Isolated ocular disease is associated with decreased mucolipin-1 channel conductance.
Goldin E et al.
Investigative Ophthalmology & Visual Science, 2008
Mucolipidosis IV: report of a case with ocular restricted phenotype caused by leaky splice mutation.
Dobrovolny R et al.
American Journal of Ophthalmology, 2007
TRP-ML1 is a lysosomal monovalent cation channel that undergoes proteolytic cleavage.
Kiselyov K et al.
The Journal of Biological Chemistry, 2005
Mucolipin 1: endocytosis and cation channel--a review.
Bach G
Pflugers Archiv : European Journal of Physiology, 2005
Cation channel activity of mucolipin-1: the effect of calcium.
Cantiello HF et al.
Pflugers Archiv : European Journal of Physiology, 2005
Functional links between mucolipin-1 and Ca2+-dependent membrane trafficking in mucolipidosis IV.
LaPlante JM et al.
Biochemical and Biophysical Research Communications, 2004
Molecular pathophysiology of mucolipidosis type IV: pH dysregulation of the mucolipin-1 cation channel.
Raychowdhury MK et al.
Human Molecular Genetics, 2004
Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel.
Sun M et al.
Human Molecular Genetics, 2000