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- I-cell_disease abstract "Inclusion-cell (I-cell) disease, also referred to as mucolipidosis II (ML II), is part of the lysosomal storage disease family and results from a defective phosphotransferase (an enzyme of the Golgi apparatus). This enzyme transfers phosphate to mannose residues on specific proteins, and serves as a marker for them to be targeted to lysosomes within the cell. Without this marker, the proteins are instead excreted outside the cell—the default pathway for proteins moving through the Golgi apparatus. Lysosomes cannot function without these proteins, which function as catabolic enzymes for the normal breakdown of substances (e.g. oligosaccharides, lipids, and glycosaminoglycans) in various tissues throughout the body (i.e. fibroblasts). As a result, a buildup of these substances occurs within lysosomes because they cannot be degraded, resulting in the characteristic I-cells, or \"inclusion cells.\" These cells can be identified under the microscope. In addition, the defective lysosomal enzymes normally found only within lysosomes are instead found in high concentrations in the blood.".
- I-cell_disease icd10 "E77.0".
- I-cell_disease icd9 "272.7".
- I-cell_disease meshId "D009081".
- I-cell_disease omim "252500".
- I-cell_disease thumbnail Mannose-6-phosphate.svg?width=300.
- I-cell_disease wikiPageExternalLink home.html.
- I-cell_disease wikiPageExternalLink www.hideandseek.org.
- I-cell_disease wikiPageExternalLink NBK1828.
- I-cell_disease wikiPageID "5881306".
- I-cell_disease wikiPageLength "7617".
- I-cell_disease wikiPageOutDegree "36".
- I-cell_disease wikiPageRevisionID "705821214".
- I-cell_disease wikiPageWikiLink Bronchitis.
- I-cell_disease wikiPageWikiLink Carpal_tunnel_syndrome.
- I-cell_disease wikiPageWikiLink Category:Glycoprotein_metabolism_disorders.
- I-cell_disease wikiPageWikiLink Cognition.
- I-cell_disease wikiPageWikiLink Cornea.
- I-cell_disease wikiPageWikiLink Dominance_(genetics).
- I-cell_disease wikiPageWikiLink Dwarfism.
- I-cell_disease wikiPageWikiLink Extracellular.
- I-cell_disease wikiPageWikiLink Glycoprotein.
- I-cell_disease wikiPageWikiLink Glycosaminoglycan.
- I-cell_disease wikiPageWikiLink Golgi_apparatus.
- I-cell_disease wikiPageWikiLink Heart_failure.
- I-cell_disease wikiPageWikiLink Heart_valve.
- I-cell_disease wikiPageWikiLink Hepatomegaly.
- I-cell_disease wikiPageWikiLink Hurler_syndrome.
- I-cell_disease wikiPageWikiLink I-cell.
- I-cell_disease wikiPageWikiLink Joint.
- I-cell_disease wikiPageWikiLink Lysosomal_storage_disease.
- I-cell_disease wikiPageWikiLink Lysosome.
- I-cell_disease wikiPageWikiLink Mannose.
- I-cell_disease wikiPageWikiLink Mannose_6-phosphate.
- I-cell_disease wikiPageWikiLink Motor_skill.
- I-cell_disease wikiPageWikiLink Mucolipidosis.
- I-cell_disease wikiPageWikiLink N-acetylglucosamine-1-phosphate_transferase.
- I-cell_disease wikiPageWikiLink Phosphorylation.
- I-cell_disease wikiPageWikiLink Phosphotransferase.
- I-cell_disease wikiPageWikiLink Pneumonia.
- I-cell_disease wikiPageWikiLink Splenomegaly.
- I-cell_disease wikiPageWikiLinkText "I-cell disease".
- I-cell_disease wikiPageWikiLinkText "I-cell_disease".
- I-cell_disease caption "Mannose-6-phosphate . I-cell disease involves a failure to add M6P to proteins.".
- I-cell_disease diseasesdb "29175".
- I-cell_disease emedicinesubj "ped".
- I-cell_disease emedicinetopic "1150".
- I-cell_disease genereviewsname "Mucolipidosis II".
- I-cell_disease genereviewsnbk "NBK1828".
- I-cell_disease icd "272.7".
- I-cell_disease icd "E77.0".
- I-cell_disease meshid "D009081".
- I-cell_disease name "I-cell disease".
- I-cell_disease omim "252500".
- I-cell_disease wikiPageUsesTemplate Template:Glycoproteinoses.
- I-cell_disease wikiPageUsesTemplate Template:Infobox_disease.
- I-cell_disease wikiPageUsesTemplate Template:NINDS.
- I-cell_disease wikiPageUsesTemplate Template:Posttranslational_modification_disorders.
- I-cell_disease wikiPageUsesTemplate Template:RareDiseases.
- I-cell_disease wikiPageUsesTemplate Template:Reflist.
- I-cell_disease subject Category:Glycoprotein_metabolism_disorders.
- I-cell_disease hypernym Part.
- I-cell_disease type Disease.
- I-cell_disease type Disorder.
- I-cell_disease type Error.
- I-cell_disease type Glycoprotein.
- I-cell_disease type Thing.
- I-cell_disease type Q12136.
- I-cell_disease comment "Inclusion-cell (I-cell) disease, also referred to as mucolipidosis II (ML II), is part of the lysosomal storage disease family and results from a defective phosphotransferase (an enzyme of the Golgi apparatus). This enzyme transfers phosphate to mannose residues on specific proteins, and serves as a marker for them to be targeted to lysosomes within the cell.".
- I-cell_disease label "I-cell disease".
- I-cell_disease sameAs Q1516888.
- I-cell_disease sameAs Malaltia_de_les_cèl·lules_I.
- I-cell_disease sameAs I-Zellkrankheit.
- I-cell_disease sameAs موکولیپیدوز_نوع_دو.
- I-cell_disease sameAs Mucolipidose_II.
- I-cell_disease sameAs m.0fbl84.
- I-cell_disease sameAs I-клеточная_болезнь.
- I-cell_disease sameAs Q1516888.
- I-cell_disease sameAs I-細胞疾病.
- I-cell_disease wasDerivedFrom I-cell_disease?oldid=705821214.
- I-cell_disease depiction Mannose-6-phosphate.svg.
- I-cell_disease isPrimaryTopicOf I-cell_disease.
- I-cell_disease name "I-cell disease".