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
Chlorambucil targets BRCA1/2-deficient tumours and counteracts PARP inhibitor resistance.
Tacconi EM et al.
Embo Molecular Medicine, 2019
Cryo-EM structures of the mammalian endo-lysosomal TRPML1 channel elucidate the combined regulation mechanism.
Zhang S et al.
Protein & Cell, 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
Mucolipidosis type IV: an update.
Wakabayashi K et al.
Molecular Genetics and Metabolism, 2011
The cation channel mucolipin-1 is a bifunctional protein that facilitates membrane remodeling via its serine lipase domain.
LaPlante JM et al.
Experimental Cell Research, 2011
Heteromultimeric TRPML channel assemblies play a crucial role in the regulation of cell viability models and starvation-induced autophagy.
Zeevi DA et al.
Journal of Cell Science, 2010
Constitutive activity of the human TRPML2 channel induces cell degeneration.
Lev S et al.
The Journal of Biological Chemistry, 2010
The type IV mucolipidosis-associated protein TRPML1 is an endolysosomal iron release channel.
Dong XP et al.
Nature, 2008
Mucolipin-1 is a lysosomal membrane protein required for intracellular lactosylceramide traffic.
Pryor PR et al.
Traffic (copenhagen, Denmark), 2006
TRP-ML1 regulates lysosomal pH and acidic lysosomal lipid hydrolytic activity.
Soyombo AA et al.
The Journal of Biological Chemistry, 2006
TRP-ML1 is a lysosomal monovalent cation channel that undergoes proteolytic cleavage.
Kiselyov K et al.
The Journal of Biological Chemistry, 2005
Overexpression of wild-type and mutant mucolipin proteins in mammalian cells: effects on the late endocytic compartment organization.
Manzoni M et al.
Febs Letters, 2004
Mucolipidosis type IV: novel MCOLN1 mutations in Jewish and non-Jewish patients and the frequency of the disease in the Ashkenazi Jewish population.
Bargal R et al.
Human Mutation, 2001