1973
DOI: 10.1203/00006450-197306000-00003
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Hepatic Ultrastructure and Histochemistry in Mucolipidosis II (I-Cell Disease)

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Cited by 21 publications
(6 citation statements)
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“…At the other extreme, the liver, brain, and muscle of the Gnptab −/− mice have normal or even elevated levels of acid hydrolases that are correctly localized within lysosomes, despite the loss of the Man-6-P signal, and do not exhibit any obvious morphological alterations. These findings are in agreement with those previously reported for postmortem samples obtained from patients with MLII (Kenyon et al , 1973; Martin et al , 1975, 1984; Nagashima et al , 1977; Owada and Neufeld, 1982; Waheed et al , 1982). The liver, which is known to have a high endocytosis capacity, had an increased level of all the measured acid hydrolases, which could reflect their capture from the plasma where the levels are extremely elevated in the mutant mice (Gelfman et al , 2007).…”
Section: Discussionsupporting
confidence: 93%
See 1 more Smart Citation
“…At the other extreme, the liver, brain, and muscle of the Gnptab −/− mice have normal or even elevated levels of acid hydrolases that are correctly localized within lysosomes, despite the loss of the Man-6-P signal, and do not exhibit any obvious morphological alterations. These findings are in agreement with those previously reported for postmortem samples obtained from patients with MLII (Kenyon et al , 1973; Martin et al , 1975, 1984; Nagashima et al , 1977; Owada and Neufeld, 1982; Waheed et al , 1982). The liver, which is known to have a high endocytosis capacity, had an increased level of all the measured acid hydrolases, which could reflect their capture from the plasma where the levels are extremely elevated in the mutant mice (Gelfman et al , 2007).…”
Section: Discussionsupporting
confidence: 93%
“…At the morphological level, the most striking alterations have been found in these fibroblasts and other cell types of mesenchymal origin, which develop a lysosomal storage phenotype characterized by the accumulation of phase-dense inclusions that gave rise to the term “inclusion-cell disease” (Leroy and DeMars, 1967; Kenyon and Sensenbrenner, 1971; Aula et al , 1975; Martin et al , 1975; Nagashima et al , 1977). By contrast, other cell types exhibit few, if any, morphological alterations, including most cells of the hepatic parenchyma, CNS, and muscle (Kenyon et al , 1973; Martin et al , 1975, 1984; Nagashima et al , 1977). Interestingly, a more recent report described striking vacuolization at a novel site: the serous secretory cells of the pancreas and salivary glands of several infants with MLII (Elleder and Martin, 1998).…”
Section: Introductionmentioning
confidence: 99%
“…is necessary for efficient fusion of late endosomes and lysosomes in MEFs 6 . Notably, the characteristics of TEM in Chmp5-deficient skeletal progenitors are similar to those of cells from human inclusion-cell disease, a lysosomal storage disease with defects in almost all lysosomal enzymes and manifesting bone, joint, and muscle problems 33,34 . As the endocytic pathway also participates in sorting and processing hydrolases during lysosomal biogenesis 35 , the perturbation of the endocytic pathway may affect lysosomal enzyme maturation and activation.…”
Section: Discussionmentioning
confidence: 85%
“…According t o previous investigations in postnatal patients with stages of development suggest that the incl~isions are formed I-cell disease, the inclusions generally consisted of clear vacuoles around the Golgi apparatus and that contents of the inclusions (5,14). As seen in the present findings, however, the inclusions undergo a series of morphologic changes.…”
Section: Observations Of the Inclusions In Erythropoietic Cells In Vamentioning
confidence: 93%