ArticleThe Journal of biological chemistry2011
Lysosomal storage causes cellular dysfunction in mucolipidosis II skin fibroblasts.
Article in The Journal of biological chemistry, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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Who cites it
27 citing papers in PubMed, 44 citations in OpenAlex.
- M6PR/IGF2R double-knockout supplies therapeutic sources for mucolipidosis II and Niemann-Pick C2.The Journal of biological chemistry · 2026Article
- Relevance of functional studies for assessing an antisense oligonucleotide-mediated exon skipping therapeutic strategy for mucolipidosis type II.Orphanet journal of rare diseases · 2026Article
- Article
- Cellular Lyso-Gb3 Is a Biomarker for Mucolipidosis II.International journal of molecular sciences · 2025Article
- Establishment of a Human iPSC Line from Mucolipidosis Type II That Expresses the Key Markers of the Disease.International journal of molecular sciences · 2025Article
- Disruption of Man-6-P-Dependent Sorting to Lysosomes Confers IGF1R-Mediated Apoptosis Resistance.International journal of molecular sciences · 2025Article
- Novel Phenotypical and Biochemical Findings in Mucolipidosis Type II.International journal of molecular sciences · 2025Article
- Multisystem disorder associated with a pathogenic variant in CLCN7 in the absence of osteopetrosis.Molecular genetics & genomic medicine · 2024Article
- Review
- Multiplex tandem mass spectrometry enzymatic activity assay for the screening and diagnosis of Mucolipidosis type II and III.Molecular genetics and metabolism reports · 2023Article
- GCAF(TMEM251) regulates lysosome biogenesis by activating the mannose-6-phosphate pathway.Nature communications · 2022Article
- Cargo sorting at the trans-Golgi network at a glance.Journal of cell science · 2021Article
- Understanding amphisomes.The Biochemical journal · 2021Review
- Mucolipidoses Overview: Past, Present, and Future.International journal of molecular sciences · 2020Review
- Lipophagy and Lipolysis Status in Lipid Storage and Lipid Metabolism Diseases.International journal of molecular sciences · 2020Review
- Mechanisms of Mitochondrial Dysfunction in Lysosomal Storage Disorders: A Review.Journal of clinical medicine · 2020Review
- Altered Met receptor phosphorylation and LRP1-mediated uptake in cells lacking carbohydrate-dependent lysosomal targeting.The Journal of biological chemistry · 2017Article
- Article
- Inhibition of lysosomal CaCommunicative & integrative biology · 2017Article
- Mitochondrial Dysfunction in Lysosomal Storage Disorders.Diseases (Basel, Switzerland) · 2016Review
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Authors and funding
5 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mucolipidosis II (ML-II) is a fatal inherited metabolic disease caused by deficiency of GlcNAc-phosphotransferase, which plays a role in generating the mannose 6-phosphate recognition marker on lysosomal enzymes. In ML-II, many lysosomal acid hydrolases are mistargeted out of cells, and lysosomes become filled with undigested substrates, which explains inclusion cell disease as an alternative name for this disease. In this study, we revealed various cellular phenotypes in ML-II skin fibroblasts. We quantitated phospholipid and cholesterol within cells and showed ~2-fold accumulation in ML-II as compared with normal cells. Lysosomal pH of ML-II cells was higher than that of normal cells (5.29 ± 0.08 versus 4.79 ± 0.10, p < 0.001). The proliferated lysosomes in ML-II cells were accumulated ~3-fold in amount as compared with normal cells. Intracellular logistics including endocytosis and mannose 6-phosphate receptor recycling were impaired in ML-II cells. To confirm whether these ML-II cellular phenotypes derive from deficient lysosomal acid hydrolases within lysosomes, we performed supplementation of lysosomal enzymes using a partially purified total enzyme mixture, which was derived from the conditioned culture medium of normal skin fibroblasts after NH(4)Cl treatment. This supplementation corrected all of the previously described ML-II phenotypes. In addition, the autophagic and mitochondrial impairment that we have previously reported improved, and inclusion bodies disappeared on electron micrography following total lysosomal enzyme supplementation. Our results indicate that various cellular phenotypes in ML-II are caused by the deficiency of many lysosomal enzymes and massive accumulation of undigested substrates.
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