ArticleDisease models & mechanisms2015
Impaired myelination and reduced brain ferric iron in the mouse model of mucolipidosis IV.
Article in Disease models & mechanisms, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers.
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Who cites it
34 citing papers in PubMed, 44 citations in OpenAlex.
- The lysosomal cation channel TRPML1 regulates the oligodendrocyte cytoskeleton.bioRxiv : the preprint server for biology · 2026Article
- Physiological functions and pharmacological targeting of transient receptor potential channels.Pharmacological reviews · 2025Review
- What Does Iron Mean to an Oligodendrocyte?Glia · 2025Review
- Exploring human plasma proteomic variations in mucolipidosis type IV.Molecular therapy. Methods & clinical development · 2025Article
- A blood-brain barrier-penetrant AAV gene therapy improves neurological function in symptomatic mucolipidosis IV mice.Molecular therapy. Methods & clinical development · 2024Article
- Mechanisms controlling cellular and systemic iron homeostasis.Nature reviews. Molecular cell biology · 2024Review
- Review
- Expanding the Toolbox: Novel Modulators of Endolysosomal Cation Channels.Handbook of experimental pharmacology · 2023Article
- Brain cell type specific proteomics approach to discover pathological mechanisms in the childhood CNS disorder mucolipidosis type IV.Frontiers in molecular neuroscience · 2023Article
- Iron-induced cytotoxicity mediated by endolysosomal TRPML1 channels is reverted by TFEB.Cell death & disease · 2022Article
- TPC2 rescues lysosomal storage in mucolipidosis type IV, Niemann-Pick type C1, and Batten disease.EMBO molecular medicine · 2022Article
- Whole blood transcriptomic profiling identifies molecular pathways related to cardiovascular mortality in heart failure.European journal of heart failure · 2022Article
- Article
- White matter abnormalities and iron deposition in prenatal mucolipidosis IV- fetal imaging and pathology.Metabolic brain disease · 2021Article
- Progress in elucidating pathophysiology of mucolipidosis IV.Neuroscience letters · 2021Article
- Proteomics analysis of a human brain sample from a mucolipidosis type IV patient reveals pathophysiological pathways.Orphanet journal of rare diseases · 2021Article
- Review
- Early evidence of delayed oligodendrocyte maturation in the mouse model of mucolipidosis type IV.Disease models & mechanisms · 2020Article
- Neuropathophysiology, Genetic Profile, and Clinical Manifestation of Mucolipidosis IV-A Review and Case Series.International journal of molecular sciences · 2020Review
- Article
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Authors and funding
8 authors at 4 institutions in 1 country.
Funding
Abstract
Mucolipidosis type IV (MLIV) is a lysosomal storage disease caused by mutations in the MCOLN1 gene, which encodes the lysosomal transient receptor potential ion channel mucolipin-1 (TRPML1). MLIV causes impaired motor and cognitive development, progressive loss of vision and gastric achlorhydria. How loss of TRPML1 leads to severe psychomotor retardation is currently unknown, and there is no therapy for MLIV. White matter abnormalities and a hypoplastic corpus callosum are the major hallmarks of MLIV brain pathology. Here, we report that loss of TRPML1 in mice results in developmental aberrations of brain myelination as a result of deficient maturation and loss of oligodendrocytes. Defective myelination is evident in Mcoln1(-/-) mice at postnatal day 10, an active stage of postnatal myelination in the mouse brain. Expression of mature oligodendrocyte markers is reduced in Mcoln1(-/-) mice at postnatal day 10 and remains lower throughout the course of the disease. We observed reduced Perls' staining in Mcoln1(-/-) brain, indicating lower levels of ferric iron. Total iron content in unperfused brain is not significantly different between Mcoln1(-/-) and wild-type littermate mice, suggesting that the observed maturation delay or loss of oligodendrocytes might be caused by impaired iron handling, rather than by global iron deficiency. Overall, these data emphasize a developmental rather than a degenerative disease course in MLIV, and suggest that there should be a stronger focus on oligodendrocyte maturation and survival to better understand MLIV pathogenesis and aid treatment development.
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