Novel G335V mutation in the tau gene associated with early onset familial frontotemporal dementia
Mutations in the tau gene cause familial frontotemporal dementia and parkinsonism linked to chromosome 17. Here we describe a novel missense mutation in exon 12 of the tau gene, G335V, in a German family with frontotemporal dementia of early age at onset, in the third decade of life. Functional anal...
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| Veröffentlicht in: | Neurogenetics 2005-05, Vol.6 (2), p.91-95 |
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| container_title | Neurogenetics |
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| creator | NEUMANN, Manuela DIEKMANN, Silvia BERTSCH, Uwe VANMASSENHOVE, Ben BOGERTS, Bernhard KRETZSCHMAR, Hans A |
| description | Mutations in the tau gene cause familial frontotemporal dementia and parkinsonism linked to chromosome 17. Here we describe a novel missense mutation in exon 12 of the tau gene, G335V, in a German family with frontotemporal dementia of early age at onset, in the third decade of life. Functional analysis of recombinant tau protein with the G335V mutation showed a dramatically reduced ability to promote microtubule assembly and a more rapid and accelerated tau filament formation, suggesting that the primary effect of the mutation might be the provision of a pool of unbound tau making it available for aberrant tau aggregation. |
| doi_str_mv | 10.1007/s10048-005-0210-y |
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Here we describe a novel missense mutation in exon 12 of the tau gene, G335V, in a German family with frontotemporal dementia of early age at onset, in the third decade of life. Functional analysis of recombinant tau protein with the G335V mutation showed a dramatically reduced ability to promote microtubule assembly and a more rapid and accelerated tau filament formation, suggesting that the primary effect of the mutation might be the provision of a pool of unbound tau making it available for aberrant tau aggregation.</description><identifier>ISSN: 1364-6745</identifier><identifier>EISSN: 1364-6753</identifier><identifier>DOI: 10.1007/s10048-005-0210-y</identifier><identifier>PMID: 15765246</identifier><language>eng</language><publisher>Berlin: Springer</publisher><subject>Age of Onset ; Anticoagulants ; Biological and medical sciences ; Dementia ; Dementia - genetics ; Family Health ; Female ; General aspects. Genetic counseling ; Genetics ; Germany ; Heparin ; Humans ; Male ; Medical genetics ; Medical sciences ; Microtubules - metabolism ; Mutation ; Mutation, Missense ; Pathology ; Pedigree ; Proteins ; Recombinant Proteins - genetics ; Recombinant Proteins - metabolism ; tau Proteins - genetics ; tau Proteins - metabolism</subject><ispartof>Neurogenetics, 2005-05, Vol.6 (2), p.91-95</ispartof><rights>2005 INIST-CNRS</rights><rights>Springer-Verlag 2005</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c356t-17ebd2a3607cd6b68068f2c2be48778a8fc9a65a735e65eac6966a17682353613</citedby><cites>FETCH-LOGICAL-c356t-17ebd2a3607cd6b68068f2c2be48778a8fc9a65a735e65eac6966a17682353613</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,27903,27904</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=16810541$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/15765246$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>NEUMANN, Manuela</creatorcontrib><creatorcontrib>DIEKMANN, Silvia</creatorcontrib><creatorcontrib>BERTSCH, Uwe</creatorcontrib><creatorcontrib>VANMASSENHOVE, Ben</creatorcontrib><creatorcontrib>BOGERTS, Bernhard</creatorcontrib><creatorcontrib>KRETZSCHMAR, Hans A</creatorcontrib><title>Novel G335V mutation in the tau gene associated with early onset familial frontotemporal dementia</title><title>Neurogenetics</title><addtitle>Neurogenetics</addtitle><description>Mutations in the tau gene cause familial frontotemporal dementia and parkinsonism linked to chromosome 17. Here we describe a novel missense mutation in exon 12 of the tau gene, G335V, in a German family with frontotemporal dementia of early age at onset, in the third decade of life. Functional analysis of recombinant tau protein with the G335V mutation showed a dramatically reduced ability to promote microtubule assembly and a more rapid and accelerated tau filament formation, suggesting that the primary effect of the mutation might be the provision of a pool of unbound tau making it available for aberrant tau aggregation.</description><subject>Age of Onset</subject><subject>Anticoagulants</subject><subject>Biological and medical sciences</subject><subject>Dementia</subject><subject>Dementia - genetics</subject><subject>Family Health</subject><subject>Female</subject><subject>General aspects. Genetic counseling</subject><subject>Genetics</subject><subject>Germany</subject><subject>Heparin</subject><subject>Humans</subject><subject>Male</subject><subject>Medical genetics</subject><subject>Medical sciences</subject><subject>Microtubules - metabolism</subject><subject>Mutation</subject><subject>Mutation, Missense</subject><subject>Pathology</subject><subject>Pedigree</subject><subject>Proteins</subject><subject>Recombinant Proteins - genetics</subject><subject>Recombinant Proteins - metabolism</subject><subject>tau Proteins - genetics</subject><subject>tau Proteins - metabolism</subject><issn>1364-6745</issn><issn>1364-6753</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2005</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>8G5</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><sourceid>GUQSH</sourceid><sourceid>M2O</sourceid><recordid>eNpdkFtrFTEQgIMotlZ_gC8SBH3bmstmkvMoRatQ2pfqa5iTnbUpu8kxyVbOv3fLOVjwZS7wzTDzMfZWinMphP1U19i7TgjTCSVFt3_GTqWGvgNr9PN_dW9O2Kta74WQFrR7yU6ksWBUD6cMr_MDTfxSa_OTz0vDFnPiMfF2R7zhwn9RIo615hCx0cD_xHbHCcu05zlVanzEOU4RJz6WnFpuNO9yWduBZkot4mv2YsSp0ptjPmM_vn65vfjWXd1cfr_4fNUFbaB10tJ2UKhB2DDAFpwAN6qgttQ7ax26MWwQDFptCAxhgA0Arg85pY0Gqc_Yx8PeXcm_F6rNz7EGmiZMlJfqwTrVG7dZwff_gfd5KWm9zSulQMCm71dIHqBQcq2FRr8rccay91L4R_n-IN-v8v2jfL9fZ94dFy_bmYaniaPtFfhwBLAGnMaCKcT6xIGTwvRS_wWH54wJ</recordid><startdate>20050501</startdate><enddate>20050501</enddate><creator>NEUMANN, Manuela</creator><creator>DIEKMANN, Silvia</creator><creator>BERTSCH, Uwe</creator><creator>VANMASSENHOVE, Ben</creator><creator>BOGERTS, Bernhard</creator><creator>KRETZSCHMAR, Hans A</creator><general>Springer</general><general>Springer Nature B.V</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>3V.</scope><scope>7TK</scope><scope>7X7</scope><scope>7XB</scope><scope>88A</scope><scope>88E</scope><scope>88G</scope><scope>8AO</scope><scope>8FD</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>8G5</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>GUQSH</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>LK8</scope><scope>M0S</scope><scope>M1P</scope><scope>M2M</scope><scope>M2O</scope><scope>M7P</scope><scope>MBDVC</scope><scope>P64</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>PSYQQ</scope><scope>Q9U</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>20050501</creationdate><title>Novel G335V mutation in the tau gene associated with early onset familial frontotemporal dementia</title><author>NEUMANN, Manuela ; DIEKMANN, Silvia ; BERTSCH, Uwe ; VANMASSENHOVE, Ben ; BOGERTS, Bernhard ; KRETZSCHMAR, Hans A</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c356t-17ebd2a3607cd6b68068f2c2be48778a8fc9a65a735e65eac6966a17682353613</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2005</creationdate><topic>Age of Onset</topic><topic>Anticoagulants</topic><topic>Biological and medical sciences</topic><topic>Dementia</topic><topic>Dementia - genetics</topic><topic>Family Health</topic><topic>Female</topic><topic>General aspects. Genetic counseling</topic><topic>Genetics</topic><topic>Germany</topic><topic>Heparin</topic><topic>Humans</topic><topic>Male</topic><topic>Medical genetics</topic><topic>Medical sciences</topic><topic>Microtubules - metabolism</topic><topic>Mutation</topic><topic>Mutation, Missense</topic><topic>Pathology</topic><topic>Pedigree</topic><topic>Proteins</topic><topic>Recombinant Proteins - genetics</topic><topic>Recombinant Proteins - metabolism</topic><topic>tau Proteins - genetics</topic><topic>tau Proteins - metabolism</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>NEUMANN, Manuela</creatorcontrib><creatorcontrib>DIEKMANN, Silvia</creatorcontrib><creatorcontrib>BERTSCH, Uwe</creatorcontrib><creatorcontrib>VANMASSENHOVE, Ben</creatorcontrib><creatorcontrib>BOGERTS, Bernhard</creatorcontrib><creatorcontrib>KRETZSCHMAR, Hans A</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>ProQuest Central (Corporate)</collection><collection>Neurosciences Abstracts</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Biology Database (Alumni Edition)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Psychology Database (Alumni)</collection><collection>ProQuest Pharma Collection</collection><collection>Technology Research Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>Research Library (Alumni Edition)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Natural Science Collection</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Engineering Research Database</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>Research Library Prep</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>ProQuest Biological Science Collection</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>ProQuest Psychology</collection><collection>Research Library</collection><collection>Biological Science Database</collection><collection>Research Library (Corporate)</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>ProQuest One Psychology</collection><collection>ProQuest Central Basic</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Neurogenetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>NEUMANN, Manuela</au><au>DIEKMANN, Silvia</au><au>BERTSCH, Uwe</au><au>VANMASSENHOVE, Ben</au><au>BOGERTS, Bernhard</au><au>KRETZSCHMAR, Hans A</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Novel G335V mutation in the tau gene associated with early onset familial frontotemporal dementia</atitle><jtitle>Neurogenetics</jtitle><addtitle>Neurogenetics</addtitle><date>2005-05-01</date><risdate>2005</risdate><volume>6</volume><issue>2</issue><spage>91</spage><epage>95</epage><pages>91-95</pages><issn>1364-6745</issn><eissn>1364-6753</eissn><abstract>Mutations in the tau gene cause familial frontotemporal dementia and parkinsonism linked to chromosome 17. Here we describe a novel missense mutation in exon 12 of the tau gene, G335V, in a German family with frontotemporal dementia of early age at onset, in the third decade of life. Functional analysis of recombinant tau protein with the G335V mutation showed a dramatically reduced ability to promote microtubule assembly and a more rapid and accelerated tau filament formation, suggesting that the primary effect of the mutation might be the provision of a pool of unbound tau making it available for aberrant tau aggregation.</abstract><cop>Berlin</cop><pub>Springer</pub><pmid>15765246</pmid><doi>10.1007/s10048-005-0210-y</doi><tpages>5</tpages></addata></record> |
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| subjects | Age of Onset Anticoagulants Biological and medical sciences Dementia Dementia - genetics Family Health Female General aspects. Genetic counseling Genetics Germany Heparin Humans Male Medical genetics Medical sciences Microtubules - metabolism Mutation Mutation, Missense Pathology Pedigree Proteins Recombinant Proteins - genetics Recombinant Proteins - metabolism tau Proteins - genetics tau Proteins - metabolism |
| title | Novel G335V mutation in the tau gene associated with early onset familial frontotemporal dementia |
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