Studies on the Pathogenetic Mechanism of I-Cell Disease in Cultured Fibroblasts View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

1974-11

AUTHORS

U N Wiesmann, N N Herschkowitz

ABSTRACT

Extract: A marked intracellular reduction of six lysosomal enzymes could be demonstrated in fibroblasts from four different patients with mucolipidosis type II or I-cell disease. In contrast to that finding, conditioned media from the same cells contained a 2—10-fold increase of the activities of five lysosomal enzymes over control values. In obligate heterozygotes elevated lysosomal enzyme activities in the conditioned media were also found, but normal enzyme activities were measured intracellularly. A functional impairment of the lysosomal degradation of (35SO4) mucopolysaccharide (MPS) and of (35S)-sulfatide could be shown in the I-cell fibroblasts, as a consequence of decreased enzyme activities. More... »

PAGES

865

Identifiers

URI

http://scigraph.springernature.com/pub.10.1203/00006450-197411000-00002

DOI

http://dx.doi.org/10.1203/00006450-197411000-00002

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1020163726

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/4374680


Indexing Status Check whether this publication has been indexed by Scopus and Web Of Science using the SN Indexing Status Tool
Incoming Citations Browse incoming citations for this publication using opencitations.net

JSON-LD is the canonical representation for SciGraph data.

TIP: You can open this SciGraph record using an external JSON-LD service: JSON-LD Playground Google SDTT

[
  {
    "@context": "https://springernature.github.io/scigraph/jsonld/sgcontext.json", 
    "about": [
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/0601", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Biochemistry and Cell Biology", 
        "type": "DefinedTerm"
      }, 
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/06", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Biological Sciences", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Acid Phosphatase", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Cell Line", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Cells, Cultured", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Female", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Fibroblasts", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Fucose", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Glycosaminoglycans", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Glycoside Hydrolases", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Hexosaminidases", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Humans", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Inclusion Bodies", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "L-Lactate Dehydrogenase", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Malate Dehydrogenase", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Male", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Metabolism, Inborn Errors", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Phenols", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Sulfatases", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Sulfoglycosphingolipids", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Sulfur Radioisotopes", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "alternateName": "University of Bern", 
          "id": "https://www.grid.ac/institutes/grid.5734.5", 
          "name": [
            "Department of Pediatrics, Divisions of Cellbiology and Neurochemistry, University of Berne, Berne, Switzerland"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Wiesmann", 
        "givenName": "U N", 
        "id": "sg:person.0773561271.29", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0773561271.29"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Bern", 
          "id": "https://www.grid.ac/institutes/grid.5734.5", 
          "name": [
            "Department of Pediatrics, Divisions of Cellbiology and Neurochemistry, University of Berne, Berne, Switzerland"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Herschkowitz", 
        "givenName": "N N", 
        "id": "sg:person.0732503263.77", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0732503263.77"
        ], 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "https://doi.org/10.1111/j.1651-2227.1974.tb04343.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1025264878"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/j.1749-6632.1971.tb46934.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1030385656"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s0140-6736(71)92435-4", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1039919330"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s0140-6736(71)92435-4", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1039919330"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s0140-6736(71)92435-4", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1039919330"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1126/science.157.3790.804", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1062491938"
        ], 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "1974-11", 
    "datePublishedReg": "1974-11-01", 
    "description": "Extract: A marked intracellular reduction of six lysosomal enzymes could be demonstrated in fibroblasts from four different patients with mucolipidosis type II or I-cell disease. In contrast to that finding, conditioned media from the same cells contained a 2\u201410-fold increase of the activities of five lysosomal enzymes over control values. In obligate heterozygotes elevated lysosomal enzyme activities in the conditioned media were also found, but normal enzyme activities were measured intracellularly. A functional impairment of the lysosomal degradation of (35SO4) mucopolysaccharide (MPS) and of (35S)-sulfatide could be shown in the I-cell fibroblasts, as a consequence of decreased enzyme activities.", 
    "genre": "research_article", 
    "id": "sg:pub.10.1203/00006450-197411000-00002", 
    "inLanguage": [
      "en"
    ], 
    "isAccessibleForFree": true, 
    "isPartOf": [
      {
        "id": "sg:journal.1007352", 
        "issn": [
          "0031-3998", 
          "1530-0447"
        ], 
        "name": "Pediatric Research", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "11", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "8"
      }
    ], 
    "name": "Studies on the Pathogenetic Mechanism of I-Cell Disease in Cultured Fibroblasts", 
    "pagination": "865", 
    "productId": [
      {
        "name": "readcube_id", 
        "type": "PropertyValue", 
        "value": [
          "6012b95ee5f451498067594d060376da24a349d41b26c393f7c329f49cc5ed0c"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "4374680"
        ]
      }, 
      {
        "name": "nlm_unique_id", 
        "type": "PropertyValue", 
        "value": [
          "0100714"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1203/00006450-197411000-00002"
        ]
      }, 
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1020163726"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1203/00006450-197411000-00002", 
      "https://app.dimensions.ai/details/publication/pub.1020163726"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2019-04-10T16:28", 
    "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
    "sdPublisher": {
      "name": "Springer Nature - SN SciGraph project", 
      "type": "Organization"
    }, 
    "sdSource": "s3://com-uberresearch-data-dimensions-target-20181106-alternative/cleanup/v134/2549eaecd7973599484d7c17b260dba0a4ecb94b/merge/v9/a6c9fde33151104705d4d7ff012ea9563521a3ce/jats-lookup/v90/0000000001_0000000264/records_8669_00000424.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "https://www.nature.com/articles/pr1974978"
  }
]
 

Download the RDF metadata as:  json-ld nt turtle xml License info

HOW TO GET THIS DATA PROGRAMMATICALLY:

JSON-LD is a popular format for linked data which is fully compatible with JSON.

curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/pub.10.1203/00006450-197411000-00002'

N-Triples is a line-based linked data format ideal for batch operations.

curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1203/00006450-197411000-00002'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1203/00006450-197411000-00002'

RDF/XML is a standard XML format for linked data.

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1203/00006450-197411000-00002'


 

This table displays all metadata directly associated to this object as RDF triples.

164 TRIPLES      21 PREDICATES      52 URIs      40 LITERALS      28 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1203/00006450-197411000-00002 schema:about N1e77efff4ea142f8bb65c4fbee370b85
2 N2442b0a3d7794ccca020bf3c7dcc3903
3 N38ed4e3f7ab0466caf616856fd5e8bf4
4 N4c88704ec82d4031a21c73855d72a589
5 N540d751db1654355ac0a4e1cccbc6387
6 N5aacfe7257b541e395cab3fa40aeeaea
7 N6babe03289754ef9a156aaf91d35d835
8 N76b37aa64e6042d4aada7dfd37c3026c
9 N8296f4e57cf2413ebf077c910510268e
10 N8950f3a416584573bf26d415a2faef7e
11 N8ae913c2c5e34d2f8ad38824d0eb1d09
12 N9f45228a60d64b9491c1bdb388b9519b
13 Nc340ec23e650475996083edecf97d0b2
14 Ncb74103358224c31828b3f3f7aba152a
15 Ncf67a87ff8e047f2a79f13c5b2c38068
16 Ndb96f45cce8d4bf299a40249386c13e3
17 Ndcca97e4fefc4825bea3d45ab570abd8
18 Ndef367945b8f4c0a9df32a07d003ecec
19 Nefa4b8a2080447fbbd414d82902d53a9
20 anzsrc-for:06
21 anzsrc-for:0601
22 schema:author Nb6dd0e2c6f1e4a668e6dc00682634553
23 schema:citation https://doi.org/10.1016/s0140-6736(71)92435-4
24 https://doi.org/10.1111/j.1651-2227.1974.tb04343.x
25 https://doi.org/10.1111/j.1749-6632.1971.tb46934.x
26 https://doi.org/10.1126/science.157.3790.804
27 schema:datePublished 1974-11
28 schema:datePublishedReg 1974-11-01
29 schema:description Extract: A marked intracellular reduction of six lysosomal enzymes could be demonstrated in fibroblasts from four different patients with mucolipidosis type II or I-cell disease. In contrast to that finding, conditioned media from the same cells contained a 2—10-fold increase of the activities of five lysosomal enzymes over control values. In obligate heterozygotes elevated lysosomal enzyme activities in the conditioned media were also found, but normal enzyme activities were measured intracellularly. A functional impairment of the lysosomal degradation of (35SO4) mucopolysaccharide (MPS) and of (35S)-sulfatide could be shown in the I-cell fibroblasts, as a consequence of decreased enzyme activities.
30 schema:genre research_article
31 schema:inLanguage en
32 schema:isAccessibleForFree true
33 schema:isPartOf N643170eaf1234a4288cce5a9610691f8
34 N6b7c2811b2d043d9b2a28bfacd8129d4
35 sg:journal.1007352
36 schema:name Studies on the Pathogenetic Mechanism of I-Cell Disease in Cultured Fibroblasts
37 schema:pagination 865
38 schema:productId N12dafb76b79f4915b5555d50fe039f8e
39 N425d4d4167fb4aecbc5282962c83a6d6
40 N4b8560ed6bdb4d6fa34fe2e9d317be0a
41 N870409d9f1d044c887eff44a9e8a9e45
42 Ncd538fd4ac944d74bc21386fb29d76f7
43 schema:sameAs https://app.dimensions.ai/details/publication/pub.1020163726
44 https://doi.org/10.1203/00006450-197411000-00002
45 schema:sdDatePublished 2019-04-10T16:28
46 schema:sdLicense https://scigraph.springernature.com/explorer/license/
47 schema:sdPublisher N164b51738bd347878fde7502e8fc5b76
48 schema:url https://www.nature.com/articles/pr1974978
49 sgo:license sg:explorer/license/
50 sgo:sdDataset articles
51 rdf:type schema:ScholarlyArticle
52 N12dafb76b79f4915b5555d50fe039f8e schema:name readcube_id
53 schema:value 6012b95ee5f451498067594d060376da24a349d41b26c393f7c329f49cc5ed0c
54 rdf:type schema:PropertyValue
55 N164b51738bd347878fde7502e8fc5b76 schema:name Springer Nature - SN SciGraph project
56 rdf:type schema:Organization
57 N1e77efff4ea142f8bb65c4fbee370b85 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
58 schema:name Male
59 rdf:type schema:DefinedTerm
60 N2442b0a3d7794ccca020bf3c7dcc3903 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
61 schema:name Metabolism, Inborn Errors
62 rdf:type schema:DefinedTerm
63 N38ed4e3f7ab0466caf616856fd5e8bf4 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
64 schema:name Sulfoglycosphingolipids
65 rdf:type schema:DefinedTerm
66 N425d4d4167fb4aecbc5282962c83a6d6 schema:name dimensions_id
67 schema:value pub.1020163726
68 rdf:type schema:PropertyValue
69 N4373eb115444404d8552f08b050a00be rdf:first sg:person.0732503263.77
70 rdf:rest rdf:nil
71 N4b8560ed6bdb4d6fa34fe2e9d317be0a schema:name doi
72 schema:value 10.1203/00006450-197411000-00002
73 rdf:type schema:PropertyValue
74 N4c88704ec82d4031a21c73855d72a589 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
75 schema:name Fucose
76 rdf:type schema:DefinedTerm
77 N540d751db1654355ac0a4e1cccbc6387 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
78 schema:name Glycoside Hydrolases
79 rdf:type schema:DefinedTerm
80 N5aacfe7257b541e395cab3fa40aeeaea schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
81 schema:name Cell Line
82 rdf:type schema:DefinedTerm
83 N643170eaf1234a4288cce5a9610691f8 schema:volumeNumber 8
84 rdf:type schema:PublicationVolume
85 N6b7c2811b2d043d9b2a28bfacd8129d4 schema:issueNumber 11
86 rdf:type schema:PublicationIssue
87 N6babe03289754ef9a156aaf91d35d835 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
88 schema:name Phenols
89 rdf:type schema:DefinedTerm
90 N76b37aa64e6042d4aada7dfd37c3026c schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
91 schema:name Sulfur Radioisotopes
92 rdf:type schema:DefinedTerm
93 N8296f4e57cf2413ebf077c910510268e schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
94 schema:name Fibroblasts
95 rdf:type schema:DefinedTerm
96 N870409d9f1d044c887eff44a9e8a9e45 schema:name pubmed_id
97 schema:value 4374680
98 rdf:type schema:PropertyValue
99 N8950f3a416584573bf26d415a2faef7e schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
100 schema:name Glycosaminoglycans
101 rdf:type schema:DefinedTerm
102 N8ae913c2c5e34d2f8ad38824d0eb1d09 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
103 schema:name Hexosaminidases
104 rdf:type schema:DefinedTerm
105 N9f45228a60d64b9491c1bdb388b9519b schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
106 schema:name Acid Phosphatase
107 rdf:type schema:DefinedTerm
108 Nb6dd0e2c6f1e4a668e6dc00682634553 rdf:first sg:person.0773561271.29
109 rdf:rest N4373eb115444404d8552f08b050a00be
110 Nc340ec23e650475996083edecf97d0b2 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
111 schema:name Sulfatases
112 rdf:type schema:DefinedTerm
113 Ncb74103358224c31828b3f3f7aba152a schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
114 schema:name L-Lactate Dehydrogenase
115 rdf:type schema:DefinedTerm
116 Ncd538fd4ac944d74bc21386fb29d76f7 schema:name nlm_unique_id
117 schema:value 0100714
118 rdf:type schema:PropertyValue
119 Ncf67a87ff8e047f2a79f13c5b2c38068 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
120 schema:name Humans
121 rdf:type schema:DefinedTerm
122 Ndb96f45cce8d4bf299a40249386c13e3 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
123 schema:name Cells, Cultured
124 rdf:type schema:DefinedTerm
125 Ndcca97e4fefc4825bea3d45ab570abd8 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
126 schema:name Inclusion Bodies
127 rdf:type schema:DefinedTerm
128 Ndef367945b8f4c0a9df32a07d003ecec schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
129 schema:name Malate Dehydrogenase
130 rdf:type schema:DefinedTerm
131 Nefa4b8a2080447fbbd414d82902d53a9 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
132 schema:name Female
133 rdf:type schema:DefinedTerm
134 anzsrc-for:06 schema:inDefinedTermSet anzsrc-for:
135 schema:name Biological Sciences
136 rdf:type schema:DefinedTerm
137 anzsrc-for:0601 schema:inDefinedTermSet anzsrc-for:
138 schema:name Biochemistry and Cell Biology
139 rdf:type schema:DefinedTerm
140 sg:journal.1007352 schema:issn 0031-3998
141 1530-0447
142 schema:name Pediatric Research
143 rdf:type schema:Periodical
144 sg:person.0732503263.77 schema:affiliation https://www.grid.ac/institutes/grid.5734.5
145 schema:familyName Herschkowitz
146 schema:givenName N N
147 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0732503263.77
148 rdf:type schema:Person
149 sg:person.0773561271.29 schema:affiliation https://www.grid.ac/institutes/grid.5734.5
150 schema:familyName Wiesmann
151 schema:givenName U N
152 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0773561271.29
153 rdf:type schema:Person
154 https://doi.org/10.1016/s0140-6736(71)92435-4 schema:sameAs https://app.dimensions.ai/details/publication/pub.1039919330
155 rdf:type schema:CreativeWork
156 https://doi.org/10.1111/j.1651-2227.1974.tb04343.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1025264878
157 rdf:type schema:CreativeWork
158 https://doi.org/10.1111/j.1749-6632.1971.tb46934.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1030385656
159 rdf:type schema:CreativeWork
160 https://doi.org/10.1126/science.157.3790.804 schema:sameAs https://app.dimensions.ai/details/publication/pub.1062491938
161 rdf:type schema:CreativeWork
162 https://www.grid.ac/institutes/grid.5734.5 schema:alternateName University of Bern
163 schema:name Department of Pediatrics, Divisions of Cellbiology and Neurochemistry, University of Berne, Berne, Switzerland
164 rdf:type schema:Organization
 




Preview window. Press ESC to close (or click here)


...