Associated Papers
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
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
39671793 (PubMed )
Supplement: supplement_1.zip › Revised_supplementary_clean.docx
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
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 in a Turkish boy associated with a novel MCOLN1 mutation.
Tüysüz B et al.
Brain & Development, 2009
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