A mouse model for Zellweger syndrome
The cerebro-hepato-renal syndrome of Zellweger is a fatal inherited disease caused by deficient import of peroxisomal matrix proteins. The pathogenic mechanisms leading to extreme hypotonia, severe mental retardation and early death are unknown. We generated a Zellweger animal model through inactiva...
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| Veröffentlicht in: | Nature genetics 1997-09, Vol.17 (1), p.49-57 |
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| creator | Baes, Myriam Gressens, Pierre Baumgart, Eveline Carmeliet, Peter Casteels, Minne Fransen, Marc Evrard, Philippe Fahimi, Dariush Declercq, Peter E. Collen, Désiré van Veldhoven, Paul P. Mannaerts, Guy P. |
| description | The cerebro-hepato-renal syndrome of Zellweger is a fatal inherited disease caused by deficient import of peroxisomal matrix proteins. The pathogenic mechanisms leading to extreme hypotonia, severe mental retardation and early death are unknown. We generated a Zellweger animal model through inactivation of the murine
Pxr1
gene (formally known as
Pex5
) that encodes the import receptor for most peroxisomal matrix proteins. Pxr1
−/−
mice lacked morphologically identifiable peroxisomes and exhibited the typical biochemical abnormalities of Zellweger patients. They displayed intrauterine growth retardation, were severely hypotonic at birth and died within 72 hours. Analysis of the neocortex revealed impaired neuronal migration and maturation and extensive apoptotic death of neurons. |
| doi_str_mv | 10.1038/ng0997-49 |
| format | Article |
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Pxr1
gene (formally known as
Pex5
) that encodes the import receptor for most peroxisomal matrix proteins. Pxr1
−/−
mice lacked morphologically identifiable peroxisomes and exhibited the typical biochemical abnormalities of Zellweger patients. They displayed intrauterine growth retardation, were severely hypotonic at birth and died within 72 hours. Analysis of the neocortex revealed impaired neuronal migration and maturation and extensive apoptotic death of neurons.</description><identifier>ISSN: 1061-4036</identifier><identifier>EISSN: 1546-1718</identifier><identifier>DOI: 10.1038/ng0997-49</identifier><identifier>PMID: 9288097</identifier><identifier>CODEN: NGENEC</identifier><language>eng</language><publisher>New York: Nature Publishing Group US</publisher><subject>Agriculture ; Animal Genetics and Genomics ; Animals ; Animals, Newborn ; Apoptosis ; Base Sequence ; Biological and medical sciences ; Biomedical and Life Sciences ; Biomedicine ; Brain - metabolism ; Brain - pathology ; Cancer Research ; Cerebral Cortex - pathology ; Death ; Disease Models, Animal ; DNA - biosynthesis ; DNA Primers ; Errors of metabolism ; Female ; Fetal Growth Retardation ; Fibroblasts - metabolism ; Gene Function ; Human Genetics ; Humans ; Liver - metabolism ; Liver - pathology ; Medical sciences ; Metabolic diseases ; Mice ; Mice, Knockout ; Miscellaneous hereditary metabolic disorders ; Molecular Sequence Data ; Neurons - pathology ; Neurons - physiology ; Peroxisome-Targeting Signal 1 Receptor ; Polymerase Chain Reaction ; Pregnancy ; Receptors, Cytoplasmic and Nuclear - deficiency ; Receptors, Cytoplasmic and Nuclear - genetics ; Receptors, Cytoplasmic and Nuclear - metabolism ; Recombination, Genetic ; Zellweger Syndrome - genetics ; Zellweger Syndrome - pathology ; Zellweger Syndrome - physiopathology</subject><ispartof>Nature genetics, 1997-09, Vol.17 (1), p.49-57</ispartof><rights>Springer Nature America, Inc. 1997</rights><rights>1997 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c377t-4d04b89884cacefb08455bd60c55aa569ff904794139cf6db8ef03606a4fbde83</citedby><cites>FETCH-LOGICAL-c377t-4d04b89884cacefb08455bd60c55aa569ff904794139cf6db8ef03606a4fbde83</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1038/ng0997-49$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1038/ng0997-49$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,776,780,27903,27904,41467,42536,51297</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=2806807$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/9288097$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Baes, Myriam</creatorcontrib><creatorcontrib>Gressens, Pierre</creatorcontrib><creatorcontrib>Baumgart, Eveline</creatorcontrib><creatorcontrib>Carmeliet, Peter</creatorcontrib><creatorcontrib>Casteels, Minne</creatorcontrib><creatorcontrib>Fransen, Marc</creatorcontrib><creatorcontrib>Evrard, Philippe</creatorcontrib><creatorcontrib>Fahimi, Dariush</creatorcontrib><creatorcontrib>Declercq, Peter E.</creatorcontrib><creatorcontrib>Collen, Désiré</creatorcontrib><creatorcontrib>van Veldhoven, Paul P.</creatorcontrib><creatorcontrib>Mannaerts, Guy P.</creatorcontrib><title>A mouse model for Zellweger syndrome</title><title>Nature genetics</title><addtitle>Nat Genet</addtitle><addtitle>Nat Genet</addtitle><description>The cerebro-hepato-renal syndrome of Zellweger is a fatal inherited disease caused by deficient import of peroxisomal matrix proteins. The pathogenic mechanisms leading to extreme hypotonia, severe mental retardation and early death are unknown. We generated a Zellweger animal model through inactivation of the murine
Pxr1
gene (formally known as
Pex5
) that encodes the import receptor for most peroxisomal matrix proteins. Pxr1
−/−
mice lacked morphologically identifiable peroxisomes and exhibited the typical biochemical abnormalities of Zellweger patients. They displayed intrauterine growth retardation, were severely hypotonic at birth and died within 72 hours. Analysis of the neocortex revealed impaired neuronal migration and maturation and extensive apoptotic death of neurons.</description><subject>Agriculture</subject><subject>Animal Genetics and Genomics</subject><subject>Animals</subject><subject>Animals, Newborn</subject><subject>Apoptosis</subject><subject>Base Sequence</subject><subject>Biological and medical sciences</subject><subject>Biomedical and Life Sciences</subject><subject>Biomedicine</subject><subject>Brain - metabolism</subject><subject>Brain - pathology</subject><subject>Cancer Research</subject><subject>Cerebral Cortex - pathology</subject><subject>Death</subject><subject>Disease Models, Animal</subject><subject>DNA - biosynthesis</subject><subject>DNA Primers</subject><subject>Errors of metabolism</subject><subject>Female</subject><subject>Fetal Growth Retardation</subject><subject>Fibroblasts - metabolism</subject><subject>Gene Function</subject><subject>Human Genetics</subject><subject>Humans</subject><subject>Liver - metabolism</subject><subject>Liver - pathology</subject><subject>Medical sciences</subject><subject>Metabolic diseases</subject><subject>Mice</subject><subject>Mice, Knockout</subject><subject>Miscellaneous hereditary metabolic disorders</subject><subject>Molecular Sequence Data</subject><subject>Neurons - pathology</subject><subject>Neurons - physiology</subject><subject>Peroxisome-Targeting Signal 1 Receptor</subject><subject>Polymerase Chain Reaction</subject><subject>Pregnancy</subject><subject>Receptors, Cytoplasmic and Nuclear - deficiency</subject><subject>Receptors, Cytoplasmic and Nuclear - genetics</subject><subject>Receptors, Cytoplasmic and Nuclear - metabolism</subject><subject>Recombination, Genetic</subject><subject>Zellweger Syndrome - genetics</subject><subject>Zellweger Syndrome - pathology</subject><subject>Zellweger Syndrome - physiopathology</subject><issn>1061-4036</issn><issn>1546-1718</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1997</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkE1LAzEQhoMotVYP_gBhD0VQWJ10s8nkWIpfUPCiFy8hm01Ky37UpIv035uyS0-Cl8nA-zB5eQi5pvBAIcPHZgVSipTJEzKmOeMpFRRP4w6cpgwyfk4uQtgAUMYAR2QkZ4ggxZhM50nddsHGWdoqca1PvmxV_diV9UnYN6Vva3tJzpyugr0a3gn5fH76WLymy_eXt8V8mZpMiF3KSmAFSkRmtLGuAGR5XpQcTJ5rnXPpnAQmJKOZNI6XBVoXuwHXzBWlxWxCbvu7W99-dzbsVL0OJtbRjY0llZAzzoWg_4KUAwJiFsG7HjS-DcFbp7Z-XWu_VxTUQZ3q1SkmI3szHO2K2pZHcnAV8-mQ62B05bxuzDocsRkCRzhg9z0WYtJEjWrTdr6J3v748xefgoIZ</recordid><startdate>19970901</startdate><enddate>19970901</enddate><creator>Baes, Myriam</creator><creator>Gressens, Pierre</creator><creator>Baumgart, Eveline</creator><creator>Carmeliet, Peter</creator><creator>Casteels, Minne</creator><creator>Fransen, Marc</creator><creator>Evrard, Philippe</creator><creator>Fahimi, Dariush</creator><creator>Declercq, Peter E.</creator><creator>Collen, Désiré</creator><creator>van Veldhoven, Paul P.</creator><creator>Mannaerts, Guy P.</creator><general>Nature Publishing Group US</general><general>Nature Publishing Group</general><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7QO</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>19970901</creationdate><title>A mouse model for Zellweger syndrome</title><author>Baes, Myriam ; Gressens, Pierre ; Baumgart, Eveline ; Carmeliet, Peter ; Casteels, Minne ; Fransen, Marc ; Evrard, Philippe ; Fahimi, Dariush ; Declercq, Peter E. ; Collen, Désiré ; van Veldhoven, Paul P. ; Mannaerts, Guy P.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c377t-4d04b89884cacefb08455bd60c55aa569ff904794139cf6db8ef03606a4fbde83</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1997</creationdate><topic>Agriculture</topic><topic>Animal Genetics and Genomics</topic><topic>Animals</topic><topic>Animals, Newborn</topic><topic>Apoptosis</topic><topic>Base Sequence</topic><topic>Biological and medical sciences</topic><topic>Biomedical and Life Sciences</topic><topic>Biomedicine</topic><topic>Brain - metabolism</topic><topic>Brain - pathology</topic><topic>Cancer Research</topic><topic>Cerebral Cortex - pathology</topic><topic>Death</topic><topic>Disease Models, Animal</topic><topic>DNA - biosynthesis</topic><topic>DNA Primers</topic><topic>Errors of metabolism</topic><topic>Female</topic><topic>Fetal Growth Retardation</topic><topic>Fibroblasts - metabolism</topic><topic>Gene Function</topic><topic>Human Genetics</topic><topic>Humans</topic><topic>Liver - metabolism</topic><topic>Liver - pathology</topic><topic>Medical sciences</topic><topic>Metabolic diseases</topic><topic>Mice</topic><topic>Mice, Knockout</topic><topic>Miscellaneous hereditary metabolic disorders</topic><topic>Molecular Sequence Data</topic><topic>Neurons - pathology</topic><topic>Neurons - physiology</topic><topic>Peroxisome-Targeting Signal 1 Receptor</topic><topic>Polymerase Chain Reaction</topic><topic>Pregnancy</topic><topic>Receptors, Cytoplasmic and Nuclear - deficiency</topic><topic>Receptors, Cytoplasmic and Nuclear - genetics</topic><topic>Receptors, Cytoplasmic and Nuclear - metabolism</topic><topic>Recombination, Genetic</topic><topic>Zellweger Syndrome - genetics</topic><topic>Zellweger Syndrome - pathology</topic><topic>Zellweger Syndrome - physiopathology</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Baes, Myriam</creatorcontrib><creatorcontrib>Gressens, Pierre</creatorcontrib><creatorcontrib>Baumgart, Eveline</creatorcontrib><creatorcontrib>Carmeliet, Peter</creatorcontrib><creatorcontrib>Casteels, Minne</creatorcontrib><creatorcontrib>Fransen, Marc</creatorcontrib><creatorcontrib>Evrard, Philippe</creatorcontrib><creatorcontrib>Fahimi, Dariush</creatorcontrib><creatorcontrib>Declercq, Peter E.</creatorcontrib><creatorcontrib>Collen, Désiré</creatorcontrib><creatorcontrib>van Veldhoven, Paul P.</creatorcontrib><creatorcontrib>Mannaerts, Guy P.</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Biotechnology Research Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Nature genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Baes, Myriam</au><au>Gressens, Pierre</au><au>Baumgart, Eveline</au><au>Carmeliet, Peter</au><au>Casteels, Minne</au><au>Fransen, Marc</au><au>Evrard, Philippe</au><au>Fahimi, Dariush</au><au>Declercq, Peter E.</au><au>Collen, Désiré</au><au>van Veldhoven, Paul P.</au><au>Mannaerts, Guy P.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>A mouse model for Zellweger syndrome</atitle><jtitle>Nature genetics</jtitle><stitle>Nat Genet</stitle><addtitle>Nat Genet</addtitle><date>1997-09-01</date><risdate>1997</risdate><volume>17</volume><issue>1</issue><spage>49</spage><epage>57</epage><pages>49-57</pages><issn>1061-4036</issn><eissn>1546-1718</eissn><coden>NGENEC</coden><abstract>The cerebro-hepato-renal syndrome of Zellweger is a fatal inherited disease caused by deficient import of peroxisomal matrix proteins. The pathogenic mechanisms leading to extreme hypotonia, severe mental retardation and early death are unknown. We generated a Zellweger animal model through inactivation of the murine
Pxr1
gene (formally known as
Pex5
) that encodes the import receptor for most peroxisomal matrix proteins. Pxr1
−/−
mice lacked morphologically identifiable peroxisomes and exhibited the typical biochemical abnormalities of Zellweger patients. They displayed intrauterine growth retardation, were severely hypotonic at birth and died within 72 hours. Analysis of the neocortex revealed impaired neuronal migration and maturation and extensive apoptotic death of neurons.</abstract><cop>New York</cop><pub>Nature Publishing Group US</pub><pmid>9288097</pmid><doi>10.1038/ng0997-49</doi><tpages>9</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 1061-4036 |
| ispartof | Nature genetics, 1997-09, Vol.17 (1), p.49-57 |
| issn | 1061-4036 1546-1718 |
| language | eng |
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| subjects | Agriculture Animal Genetics and Genomics Animals Animals, Newborn Apoptosis Base Sequence Biological and medical sciences Biomedical and Life Sciences Biomedicine Brain - metabolism Brain - pathology Cancer Research Cerebral Cortex - pathology Death Disease Models, Animal DNA - biosynthesis DNA Primers Errors of metabolism Female Fetal Growth Retardation Fibroblasts - metabolism Gene Function Human Genetics Humans Liver - metabolism Liver - pathology Medical sciences Metabolic diseases Mice Mice, Knockout Miscellaneous hereditary metabolic disorders Molecular Sequence Data Neurons - pathology Neurons - physiology Peroxisome-Targeting Signal 1 Receptor Polymerase Chain Reaction Pregnancy Receptors, Cytoplasmic and Nuclear - deficiency Receptors, Cytoplasmic and Nuclear - genetics Receptors, Cytoplasmic and Nuclear - metabolism Recombination, Genetic Zellweger Syndrome - genetics Zellweger Syndrome - pathology Zellweger Syndrome - physiopathology |
| title | A mouse model for Zellweger syndrome |
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