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
Exploring human plasma proteomic variations in mucolipidosis type IV.
Tobin BR et al.
Molecular Therapy. Methods & Clinical Development, 2025
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
Role of Lysosomal Gene Variants in Modulating GBA-Associated Parkinson's Disease Risk.
Straniero L et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2022
Peripheral Inflammatory Cytokine Signature Mirrors Motor Deficits in Mucolipidosis IV.
Misko AL et al.
Cells, 2022
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
Rare Variants Analysis of Lysosomal Related Genes in Early-Onset and Familial Parkinson's Disease in a Chinese Cohort.
Chen YP et al.
Journal of Parkinson's Disease, 2021
Genetic ancestry analysis on >93,000 individuals undergoing expanded carrier screening reveals limitations of ethnicity-based medical guidelines.
Kaseniit KE et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
An apparent new syndrome of extreme short stature, microcephaly, dysmorphic faces, intellectual disability, and a bone dysplasia of unknown etiology.
Stinson JL et al.
American Journal of Medical Genetics. Part A, 2020
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: an update.
Wakabayashi K et al.
Molecular Genetics and Metabolism, 2011
Mucolipin 1: endocytosis and cation channel--a review.
Bach G
Pflugers Archiv : European Journal of Physiology, 2005
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