ArticleMolecular biology of the cell2011
Vacuolization of mucolipidosis type II mouse exocrine gland cells represents accumulation of autolysosomes.
Article in Molecular biology of the cell, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed, 28 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
- Establishment of a Human iPSC Line from Mucolipidosis Type II That Expresses the Key Markers of the Disease.International journal of molecular sciences · 2025Article
- The human disease gene LYSET is essential for lysosomal enzyme transport and viral infection.Science (New York, N.Y.) · 2022Article
- Dysregulation of mannose-6-phosphate-dependent cholesterol homeostasis in acinar cells mediates pancreatitis.The Journal of clinical investigation · 2021Article
- Elevated mRNA expression and defective processing of cathepsin D in HeLa cells lacking the mannose 6-phosphate pathway.FEBS open bio · 2021Article
- Transgenic expression of GFP-LC3 perturbs autophagy in exocrine pancreas and acute pancreatitis responses in mice.Autophagy · 2020Article
- Altered Basal Autophagy Affects Extracellular Vesicle Release in Cells of Lagotto Romagnolo Dogs With a VariantVeterinary pathology · 2020Article
- Mechanisms of Mitochondrial Dysfunction in Lysosomal Storage Disorders: A Review.Journal of clinical medicine · 2020Review
- Upregulation of Sortilin, a Lysosomal Sorting Receptor, Corresponds with Reduced Bioavailability of Latent TGFβ in Mucolipidosis II Cells.Biomolecules · 2020Article
- Regenerative proliferation of differentiated cells by mTORC1-dependent paligenosis.The EMBO journal · 2018Article
- Subcellular Trafficking of Mammalian Lysosomal Proteins: An Extended View.International journal of molecular sciences · 2016Review
- Mitochondrial Dysfunction in Lysosomal Storage Disorders.Diseases (Basel, Switzerland) · 2016Review
- Clec16a is Critical for Autolysosome Function and Purkinje Cell Survival.Scientific reports · 2016Article
- A novel mouse model of a patient mucolipidosis II mutation recapitulates disease pathology.The Journal of biological chemistry · 2014Article
- Neurologic abnormalities in mouse models of the lysosomal storage disorders mucolipidosis II and mucolipidosis III γ.PloS one · 2014Article
- Decreased bone formation and increased osteoclastogenesis cause bone loss in mucolipidosis II.EMBO molecular medicine · 2013Article
- "Late" macroendosomes and acidic endosomes in vertebrate motor nerve terminals.The Journal of comparative neurology · 2012Article
- Autophagy and pancreatitis.American journal of physiology. Gastrointestinal and liver physiology · 2012Review
- Lysosomal dysfunction causes neurodegeneration in mucolipidosis II 'knock-in' mice.Brain : a journal of neurology · 2012Article
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Authors and funding
5 authors at 2 institutions in 2 countries.
Funding
Abstract
We previously reported that mice deficient in UDP-GlcNAc:lysosomal enzyme GlcNAc-1-phosphotransferase (mucolipidosis type II or Gnptab -/- mice), the enzyme that initiates the addition of the mannose 6-phosphate lysosomal sorting signal on acid hydrolases, exhibited extensive vacuolization of their exocrine gland cells, while the liver, brain, and muscle appeared grossly unaffected. Similar pathological findings were observed in several exocrine glands of patients with mucolipidosis II. To understand the basis for this cell type-specific abnormality, we analyzed these tissues in Gnptab -/- mice using a combined immunoelectron microscopy and biochemical approach. We demonstrate that the vacuoles in the exocrine glands are enlarged autolysosomes containing undigested cytoplasmic material that accumulate secondary to deficient lysosomal function. Surprisingly, the acid hydrolase levels in these tissues ranged from normal to modestly decreased, in contrast to skin fibroblasts, which accumulate enlarged lysosomes and/or autolysosomes also but exhibit very low levels of acid hydrolases. We propose that the lysosomal defect in the exocrine cells is caused by the combination of increased secretion of the acid hydrolases via the constitutive pathway along with their entrapment in secretory granules. Taken together, our results provide new insights into the mechanisms of the tissue-specific abnormalities seen in mucolipidosis type II.
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