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
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Exploring human plasma proteomic variations in mucolipidosis type IV.
Tobin BR et al.
Molecular Therapy. Methods & Clinical Development, 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
Lysosomal genes contribute to Parkinson's disease near agriculture with high intensity pesticide use.
Ngo KJ et al.
Npj Parkinson's Disease, 2024
Iron-induced cytotoxicity mediated by endolysosomal TRPML1 channels is reverted by TFEB.
Fernández B et al.
Cell Death & Disease, 2022
Real-World Results from Combined Screening for Monogenic Genomic Health Risks and Reproductive Risks in 300 Adults.
Wildin RS et al.
Journal of Personalized Medicine, 2022
Cross-sectional Observations on the Natural History of Mucolipidosis Type IV.
Misko AL et al.
Neurology. Genetics, 2022
Peripheral Inflammatory Cytokine Signature Mirrors Motor Deficits in Mucolipidosis IV.
Misko AL et al.
Cells, 2022
Corneal imaging with optical coherence tomography assisting the diagnosis of mucolipidosis type IV.
Bostan C et al.
Canadian Journal of Ophthalmology. Journal Canadien D'ophtalmologie, 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
Mucolipidosis type IV in a child.
Chaer L et al.
Journal of Aapos : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus, 2018
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
Structural basis of dual Ca2+/pH regulation of the endolysosomal TRPML1 channel.
Li M et al.
Nature Structural & Molecular Biology, 2017
BK channel agonist represents a potential therapeutic approach for lysosomal storage diseases.
Zhong XZ et al.
Scientific Reports, 2016
Iron overload causes endolysosomal deficits modulated by NAADP-regulated 2-pore channels and RAB7A.
Fernández B et al.
Autophagy, 2016
The role of TRPMLs in endolysosomal trafficking and function.
Venkatachalam K et al.
Cell Calcium, 2015
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
Mucolipidosis type IV: a subtle pediatric neurodegenerative disorder.
Geer JS et al.
Pediatric Neurology, 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 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