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
A Novel Homozygous Variant in the MCOLN1 Gene Associated With Severe Oromandibular Dystonia and Parkinsonism.
Ghasemi A et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 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
TRPML1 gating modulation by allosteric mutations and lipids.
Gan N et al.
Elife, 2024
TRPML1 gating modulation by allosteric mutations and lipids.
Gan N et al.
Biorxiv : the Preprint Server for Biology, 2024
Mutation of TRPML1 Channel and Pathogenesis of Neurodegeneration in Haimeria.
Gao J et al.
Molecular Neurobiology, 2024
Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing.
Macken WL et al.
Nature Communications, 2022
Neurodegenerative Lysosomal Storage Disorders: TPC2 Comes to the Rescue!
Prat Castro S et al.
Cells, 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
The Israeli national population program of genetic carrier screening for reproductive purposes. How should it be continued?
Zlotogora J
Israel Journal of Health Policy Research, 2019
Cryo-electron microscopy structure of the lysosomal calcium-permeable channel TRPML3.
Hirschi M et al.
Nature, 2017
BK channel agonist represents a potential therapeutic approach for lysosomal storage diseases.
Zhong XZ et al.
Scientific Reports, 2016
Repository of mutations from Oman: The entry point to a national mutation database.
Rajab A et al.
F1000research, 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
The molecular basis of autosomal recessive diseases among the Arabs and Druze in Israel.
Zlotogora J
Human Genetics, 2010
The type IV mucolipidosis-associated protein TRPML1 is an endolysosomal iron release channel.
Dong XP et al.
Nature, 2008
The frequency of mucolipidosis type IV in the Ashkenazi Jewish population and the identification of 3 novel MCOLN1 mutations.
Bach G et al.
Human Mutation, 2005
Mucolipin 1: endocytosis and cation channel--a review.
Bach G
Pflugers Archiv : European Journal of Physiology, 2005
Transfer of a mitochondrial DNA fragment to MCOLN1 causes an inherited case of mucolipidosis IV.
Goldin E et al.
Human Mutation, 2004