Cultured skin fibroblasts in storage disorders. An analysis of ultrastructural features
Electron microscopic studies were performed on cultured fibroblasts from patients with metachromatic leukodystrophy, Fabry's, Gaucher's, Niemann-Pick's (Type A and C), Sanfilippo's (Type A and B) disease, chondroitin-4-sulfate mucopolysaccharidosis, lipofuscinosis (Spielmeyer-Vog...
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| Veröffentlicht in: | The American journal of pathology 1973-10, Vol.73 (1), p.59-80 |
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| creator | Kamensky, E Philippart, M Cancilla, P Frommes, S P |
| description | Electron microscopic studies were performed on cultured fibroblasts from patients with metachromatic leukodystrophy, Fabry's, Gaucher's, Niemann-Pick's (Type A and C), Sanfilippo's (Type A and B) disease, chondroitin-4-sulfate mucopolysaccharidosis, lipofuscinosis (Spielmeyer-Vogt's disease) and ceroid-lipofuscinosis (Batten's disease with curvilinear bodies). Specific cytoplasmic inclusions with a limiting membrane were identified in Fabry's disease, Niemann-Pick syndrome, chondroitin-4-sulfate mucopolysaccharidosis and Sanfilippo's Type B disease. In Fabry's disease, the lipid inclusions tended to form stacks of parallel and concentric membranes. In Niemann-Pick syndrome, the lipid inclusions were made of wavy, loosely packed membranes. In chondroitin-4-sulfate mucopolysaccharidosis and Sanfilippo B, the lysosomes were enlarged and contained a reticular matrix with little electron-dense material. No specific ultrastructural changes were observed in Gaucher's, Sanfilippo's (Type A) disease, metachromatic leukodystrophy (sulfatidosis) and Batten's disease. |
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An analysis of ultrastructural features</title><source>MEDLINE</source><source>Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals</source><source>PubMed Central</source><creator>Kamensky, E ; Philippart, M ; Cancilla, P ; Frommes, S P</creator><creatorcontrib>Kamensky, E ; Philippart, M ; Cancilla, P ; Frommes, S P</creatorcontrib><description>Electron microscopic studies were performed on cultured fibroblasts from patients with metachromatic leukodystrophy, Fabry's, Gaucher's, Niemann-Pick's (Type A and C), Sanfilippo's (Type A and B) disease, chondroitin-4-sulfate mucopolysaccharidosis, lipofuscinosis (Spielmeyer-Vogt's disease) and ceroid-lipofuscinosis (Batten's disease with curvilinear bodies). Specific cytoplasmic inclusions with a limiting membrane were identified in Fabry's disease, Niemann-Pick syndrome, chondroitin-4-sulfate mucopolysaccharidosis and Sanfilippo's Type B disease. In Fabry's disease, the lipid inclusions tended to form stacks of parallel and concentric membranes. In Niemann-Pick syndrome, the lipid inclusions were made of wavy, loosely packed membranes. In chondroitin-4-sulfate mucopolysaccharidosis and Sanfilippo B, the lysosomes were enlarged and contained a reticular matrix with little electron-dense material. No specific ultrastructural changes were observed in Gaucher's, Sanfilippo's (Type A) disease, metachromatic leukodystrophy (sulfatidosis) and Batten's disease.</description><identifier>ISSN: 0002-9440</identifier><identifier>EISSN: 1525-2191</identifier><identifier>PMID: 4201373</identifier><language>eng</language><publisher>United States</publisher><subject>Biopsy ; Brain - pathology ; Carbohydrate Metabolism, Inborn Errors - pathology ; Cell Nucleolus ; Cell Nucleus ; Cells, Cultured ; Cytoplasm ; Endoplasmic Reticulum ; Fabry Disease - pathology ; Female ; Fibroblasts - cytology ; Gaucher Disease - pathology ; Golgi Apparatus ; Humans ; Leukodystrophy, Metachromatic - pathology ; Lipid Metabolism, Inborn Errors - pathology ; Liver - pathology ; Male ; Microscopy, Electron ; Mitochondria ; Mucopolysaccharidoses - pathology ; Niemann-Pick Diseases - pathology ; Ribosomes ; Skin - pathology</subject><ispartof>The American journal of pathology, 1973-10, Vol.73 (1), p.59-80</ispartof><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1904047/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1904047/$$EHTML$$P50$$Gpubmedcentral$$H</linktohtml><link.rule.ids>230,314,727,780,784,885,53791,53793</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/4201373$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Kamensky, E</creatorcontrib><creatorcontrib>Philippart, M</creatorcontrib><creatorcontrib>Cancilla, P</creatorcontrib><creatorcontrib>Frommes, S P</creatorcontrib><title>Cultured skin fibroblasts in storage disorders. An analysis of ultrastructural features</title><title>The American journal of pathology</title><addtitle>Am J Pathol</addtitle><description>Electron microscopic studies were performed on cultured fibroblasts from patients with metachromatic leukodystrophy, Fabry's, Gaucher's, Niemann-Pick's (Type A and C), Sanfilippo's (Type A and B) disease, chondroitin-4-sulfate mucopolysaccharidosis, lipofuscinosis (Spielmeyer-Vogt's disease) and ceroid-lipofuscinosis (Batten's disease with curvilinear bodies). Specific cytoplasmic inclusions with a limiting membrane were identified in Fabry's disease, Niemann-Pick syndrome, chondroitin-4-sulfate mucopolysaccharidosis and Sanfilippo's Type B disease. In Fabry's disease, the lipid inclusions tended to form stacks of parallel and concentric membranes. In Niemann-Pick syndrome, the lipid inclusions were made of wavy, loosely packed membranes. In chondroitin-4-sulfate mucopolysaccharidosis and Sanfilippo B, the lysosomes were enlarged and contained a reticular matrix with little electron-dense material. No specific ultrastructural changes were observed in Gaucher's, Sanfilippo's (Type A) disease, metachromatic leukodystrophy (sulfatidosis) and Batten's disease.</description><subject>Biopsy</subject><subject>Brain - pathology</subject><subject>Carbohydrate Metabolism, Inborn Errors - pathology</subject><subject>Cell Nucleolus</subject><subject>Cell Nucleus</subject><subject>Cells, Cultured</subject><subject>Cytoplasm</subject><subject>Endoplasmic Reticulum</subject><subject>Fabry Disease - pathology</subject><subject>Female</subject><subject>Fibroblasts - cytology</subject><subject>Gaucher Disease - pathology</subject><subject>Golgi Apparatus</subject><subject>Humans</subject><subject>Leukodystrophy, Metachromatic - pathology</subject><subject>Lipid Metabolism, Inborn Errors - pathology</subject><subject>Liver - pathology</subject><subject>Male</subject><subject>Microscopy, Electron</subject><subject>Mitochondria</subject><subject>Mucopolysaccharidoses - pathology</subject><subject>Niemann-Pick Diseases - pathology</subject><subject>Ribosomes</subject><subject>Skin - pathology</subject><issn>0002-9440</issn><issn>1525-2191</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1973</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpVkEtLAzEUhYMotVZ_gpCVu5G8J9kIpfgCwY3iMmQmSY2mk5rMCP33Riyiq8vhnvudwz0Ac8wJbwhW-BDMEUKkUYyhY3BSyluVgko0AzNGEKYtnYOX1RTHKTsLy3sYoA9dTl00ZSywyjKmbNYO2lBSti6XS7gcoBlM3JVQYPKwXufqzlNfKSZC78w3rpyCI29icWf7uQDPN9dPq7vm4fH2frV8aLZE4LERtvMtFopzijskLfNWcO6QZIqrWlH0jAouFZeE8rZ1xBNlqeslN8gLb-kCXP1wt1O3cbZ3Q-0T9TaHjck7nUzQ_zdDeNXr9KmxQgyxtgIu9oCcPiZXRr0JpXcxmsGlqWhJUIslltV4_jfpN2L_SvoFb3RykA</recordid><startdate>19731001</startdate><enddate>19731001</enddate><creator>Kamensky, E</creator><creator>Philippart, M</creator><creator>Cancilla, P</creator><creator>Frommes, S P</creator><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>19731001</creationdate><title>Cultured skin fibroblasts in storage disorders. An analysis of ultrastructural features</title><author>Kamensky, E ; Philippart, M ; Cancilla, P ; Frommes, S P</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-p261t-6dbf71695531b08d4fd655e0849590136c4365895823577e2f29d3ec85a0f6fd3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1973</creationdate><topic>Biopsy</topic><topic>Brain - pathology</topic><topic>Carbohydrate Metabolism, Inborn Errors - pathology</topic><topic>Cell Nucleolus</topic><topic>Cell Nucleus</topic><topic>Cells, Cultured</topic><topic>Cytoplasm</topic><topic>Endoplasmic Reticulum</topic><topic>Fabry Disease - pathology</topic><topic>Female</topic><topic>Fibroblasts - cytology</topic><topic>Gaucher Disease - pathology</topic><topic>Golgi Apparatus</topic><topic>Humans</topic><topic>Leukodystrophy, Metachromatic - pathology</topic><topic>Lipid Metabolism, Inborn Errors - pathology</topic><topic>Liver - pathology</topic><topic>Male</topic><topic>Microscopy, Electron</topic><topic>Mitochondria</topic><topic>Mucopolysaccharidoses - pathology</topic><topic>Niemann-Pick Diseases - pathology</topic><topic>Ribosomes</topic><topic>Skin - pathology</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Kamensky, E</creatorcontrib><creatorcontrib>Philippart, M</creatorcontrib><creatorcontrib>Cancilla, P</creatorcontrib><creatorcontrib>Frommes, S P</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>The American journal of pathology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Kamensky, E</au><au>Philippart, M</au><au>Cancilla, P</au><au>Frommes, S P</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Cultured skin fibroblasts in storage disorders. An analysis of ultrastructural features</atitle><jtitle>The American journal of pathology</jtitle><addtitle>Am J Pathol</addtitle><date>1973-10-01</date><risdate>1973</risdate><volume>73</volume><issue>1</issue><spage>59</spage><epage>80</epage><pages>59-80</pages><issn>0002-9440</issn><eissn>1525-2191</eissn><abstract>Electron microscopic studies were performed on cultured fibroblasts from patients with metachromatic leukodystrophy, Fabry's, Gaucher's, Niemann-Pick's (Type A and C), Sanfilippo's (Type A and B) disease, chondroitin-4-sulfate mucopolysaccharidosis, lipofuscinosis (Spielmeyer-Vogt's disease) and ceroid-lipofuscinosis (Batten's disease with curvilinear bodies). Specific cytoplasmic inclusions with a limiting membrane were identified in Fabry's disease, Niemann-Pick syndrome, chondroitin-4-sulfate mucopolysaccharidosis and Sanfilippo's Type B disease. In Fabry's disease, the lipid inclusions tended to form stacks of parallel and concentric membranes. In Niemann-Pick syndrome, the lipid inclusions were made of wavy, loosely packed membranes. In chondroitin-4-sulfate mucopolysaccharidosis and Sanfilippo B, the lysosomes were enlarged and contained a reticular matrix with little electron-dense material. No specific ultrastructural changes were observed in Gaucher's, Sanfilippo's (Type A) disease, metachromatic leukodystrophy (sulfatidosis) and Batten's disease.</abstract><cop>United States</cop><pmid>4201373</pmid><tpages>22</tpages></addata></record> |
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| source | MEDLINE; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; PubMed Central |
| subjects | Biopsy Brain - pathology Carbohydrate Metabolism, Inborn Errors - pathology Cell Nucleolus Cell Nucleus Cells, Cultured Cytoplasm Endoplasmic Reticulum Fabry Disease - pathology Female Fibroblasts - cytology Gaucher Disease - pathology Golgi Apparatus Humans Leukodystrophy, Metachromatic - pathology Lipid Metabolism, Inborn Errors - pathology Liver - pathology Male Microscopy, Electron Mitochondria Mucopolysaccharidoses - pathology Niemann-Pick Diseases - pathology Ribosomes Skin - pathology |
| title | Cultured skin fibroblasts in storage disorders. An analysis of ultrastructural features |
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