Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia
The hereditary spastic paraplegias (HSPs; Strümpell-Lorrain syndrome, MIM number 18260) are a diverse class of disorders characterized by insidiously progressive lower-extremity spastic weakness (reviewed in refs. 1-3). Eight autosomal dominant HSP (ADHSP) loci have been identified, the most frequen...
Gespeichert in:
| Veröffentlicht in: | Nature genetics 2001-11, Vol.29 (3), p.326-331 |
|---|---|
| Hauptverfasser: | , , , , , , , , , , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 331 |
|---|---|
| container_issue | 3 |
| container_start_page | 326 |
| container_title | Nature genetics |
| container_volume | 29 |
| creator | Fink, John K Zhao, Xinping Alvarado, David Rainier, Shirley Lemons, Rosemary Hedera, Peter Weber, Christian H Tukel, Turgut Apak, Memnune Heiman-Patterson, Terry Ming, Lei Bui, Melanie |
| description | The hereditary spastic paraplegias (HSPs; Strümpell-Lorrain syndrome, MIM number 18260) are a diverse class of disorders characterized by insidiously progressive lower-extremity spastic weakness (reviewed in refs. 1-3). Eight autosomal dominant HSP (ADHSP) loci have been identified, the most frequent of which is that linked to the SPG4 locus on chromosome 2p22 (found in ∼42%), followed by that linked to the SPG3A locus on chromosome 14q11-q21 (in ∼9%). Only SPG4 has been identified as a causative gene in ADHSP. Its protein (spastin) is predicted to participate in the assembly or function of nuclear protein complexes. Here we report the identification of mutations in a newly identified GTPase gene, SPG3A, in ADHSP affected individuals. |
| doi_str_mv | 10.1038/ng758 |
| format | Article |
| fullrecord | <record><control><sourceid>gale_proqu</sourceid><recordid>TN_cdi_proquest_miscellaneous_847437293</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><galeid>A183436936</galeid><sourcerecordid>A183436936</sourcerecordid><originalsourceid>FETCH-LOGICAL-c645t-72fa8dc963f4b8515c19a547de92113a94d75fbe71d5d3af80f74ba9fe130e5c3</originalsourceid><addsrcrecordid>eNqNkm9rFDEQxhdRbK39BIIsioovriabv_uyFK2FSkWrb5e5ZLKm7GavSRbttzfnHR4topIXCZnfPMPMPFV1SMkRJUy_Cb0S-l61TwWXC6qovl_eRNIFJ0zuVY9SuiKEck70w2qPUqlFQ9R-tfwwZ8h-Cqn2oYY64PfhpvYWQ_bOo61PLz9CwrrHgLWBuTxhzlOaRhhqO40-QMj1N4xofYZ4U6cVpOxNvYIIqwF7D4-rBw6GhIfb-6D68u7t5cn7xfnF6dnJ8fnCSC7yQjUOtDWtZI4vtaDC0BYEVxbbhlIGLbdKuCUqaoVl4DRxii-hdUgZQWHYQfVqo7uK0_WMKXejTwaHAQJOc-o0V5yppmWFfPlXUjWNIETLf4JUU9YKpgr47A54Nc0xlHa7pmmkZJLzAj3fQD0M2PngphzBrBW7Y6oZZ7Jl65pHf6DKsTh6MwV0vvzfSnh9K6EwGX_kviwrdWefP_0_e_H1Nvtiw5o4pRTRdavox7LjjpJu7bnul-cK93Tb-7wc0e6orcl2QsUaBgYXIRifdhynoqVS7aadSij0GHdDvFvxyQYMkOeIv5U20Z_ZrvDb</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>222663644</pqid></control><display><type>article</type><title>Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia</title><source>MEDLINE</source><source>SpringerLink Journals</source><source>Nature</source><creator>Fink, John K ; Zhao, Xinping ; Alvarado, David ; Rainier, Shirley ; Lemons, Rosemary ; Hedera, Peter ; Weber, Christian H ; Tukel, Turgut ; Apak, Memnune ; Heiman-Patterson, Terry ; Ming, Lei ; Bui, Melanie</creator><creatorcontrib>Fink, John K ; Zhao, Xinping ; Alvarado, David ; Rainier, Shirley ; Lemons, Rosemary ; Hedera, Peter ; Weber, Christian H ; Tukel, Turgut ; Apak, Memnune ; Heiman-Patterson, Terry ; Ming, Lei ; Bui, Melanie</creatorcontrib><description>The hereditary spastic paraplegias (HSPs; Strümpell-Lorrain syndrome, MIM number 18260) are a diverse class of disorders characterized by insidiously progressive lower-extremity spastic weakness (reviewed in refs. 1-3). Eight autosomal dominant HSP (ADHSP) loci have been identified, the most frequent of which is that linked to the SPG4 locus on chromosome 2p22 (found in ∼42%), followed by that linked to the SPG3A locus on chromosome 14q11-q21 (in ∼9%). Only SPG4 has been identified as a causative gene in ADHSP. Its protein (spastin) is predicted to participate in the assembly or function of nuclear protein complexes. Here we report the identification of mutations in a newly identified GTPase gene, SPG3A, in ADHSP affected individuals.</description><identifier>ISSN: 1061-4036</identifier><identifier>EISSN: 1546-1718</identifier><identifier>DOI: 10.1038/ng758</identifier><identifier>PMID: 11685207</identifier><identifier>CODEN: NGENEC</identifier><language>eng</language><publisher>New York: Nature Publishing Group US</publisher><subject>Agriculture ; Amino Acid Sequence ; Animal Genetics and Genomics ; Base Sequence ; Biological and medical sciences ; Biomedical and Life Sciences ; Biomedicine ; Cancer Research ; chromosome 14 ; chromosome 2 ; Chromosomes ; Chromosomes, Human, Pair 2 - genetics ; Cloning ; Cloning, Molecular ; Complications and side effects ; Contig Mapping ; Diagnosis ; Female ; Fundamental and applied biological sciences. Psychology ; Gene Function ; Gene mutations ; Genes ; Genes. Genome ; Genetic aspects ; GTP Phosphohydrolases - genetics ; GTP-Binding Proteins ; Guanosine triphosphatase ; hereditary spastic paraplegia ; Human Genetics ; Humans ; Identification and classification ; letter ; Lod Score ; Male ; Membrane Proteins ; Models, Molecular ; Molecular and cellular biology ; Molecular genetics ; Molecular Sequence Data ; Mutation ; Mutation - genetics ; Paralysis, Spastic ; Pedigree ; Peptides ; Physiological aspects ; Protein Conformation ; Proteins ; Publishing ; Reverse Transcriptase Polymerase Chain Reaction ; Risk factors ; RNA, Messenger - genetics ; RNA, Messenger - metabolism ; Sequence Alignment ; Sequence Homology, Amino Acid ; Spastic Paraplegia, Hereditary - genetics ; Spasticity ; spastin ; SPG3A gene ; SPG4 gene ; Struempell-Lorrain syndrome</subject><ispartof>Nature genetics, 2001-11, Vol.29 (3), p.326-331</ispartof><rights>Springer Nature America, Inc. 2001</rights><rights>2002 INIST-CNRS</rights><rights>COPYRIGHT 2001 Nature Publishing Group</rights><rights>Copyright Nature Publishing Group Nov 2001</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c645t-72fa8dc963f4b8515c19a547de92113a94d75fbe71d5d3af80f74ba9fe130e5c3</citedby><cites>FETCH-LOGICAL-c645t-72fa8dc963f4b8515c19a547de92113a94d75fbe71d5d3af80f74ba9fe130e5c3</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/ng758$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1038/ng758$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,777,781,27906,27907,41470,42539,51301</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=14159167$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/11685207$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Fink, John K</creatorcontrib><creatorcontrib>Zhao, Xinping</creatorcontrib><creatorcontrib>Alvarado, David</creatorcontrib><creatorcontrib>Rainier, Shirley</creatorcontrib><creatorcontrib>Lemons, Rosemary</creatorcontrib><creatorcontrib>Hedera, Peter</creatorcontrib><creatorcontrib>Weber, Christian H</creatorcontrib><creatorcontrib>Tukel, Turgut</creatorcontrib><creatorcontrib>Apak, Memnune</creatorcontrib><creatorcontrib>Heiman-Patterson, Terry</creatorcontrib><creatorcontrib>Ming, Lei</creatorcontrib><creatorcontrib>Bui, Melanie</creatorcontrib><title>Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia</title><title>Nature genetics</title><addtitle>Nat Genet</addtitle><addtitle>Nat Genet</addtitle><description>The hereditary spastic paraplegias (HSPs; Strümpell-Lorrain syndrome, MIM number 18260) are a diverse class of disorders characterized by insidiously progressive lower-extremity spastic weakness (reviewed in refs. 1-3). Eight autosomal dominant HSP (ADHSP) loci have been identified, the most frequent of which is that linked to the SPG4 locus on chromosome 2p22 (found in ∼42%), followed by that linked to the SPG3A locus on chromosome 14q11-q21 (in ∼9%). Only SPG4 has been identified as a causative gene in ADHSP. Its protein (spastin) is predicted to participate in the assembly or function of nuclear protein complexes. Here we report the identification of mutations in a newly identified GTPase gene, SPG3A, in ADHSP affected individuals.</description><subject>Agriculture</subject><subject>Amino Acid Sequence</subject><subject>Animal Genetics and Genomics</subject><subject>Base Sequence</subject><subject>Biological and medical sciences</subject><subject>Biomedical and Life Sciences</subject><subject>Biomedicine</subject><subject>Cancer Research</subject><subject>chromosome 14</subject><subject>chromosome 2</subject><subject>Chromosomes</subject><subject>Chromosomes, Human, Pair 2 - genetics</subject><subject>Cloning</subject><subject>Cloning, Molecular</subject><subject>Complications and side effects</subject><subject>Contig Mapping</subject><subject>Diagnosis</subject><subject>Female</subject><subject>Fundamental and applied biological sciences. Psychology</subject><subject>Gene Function</subject><subject>Gene mutations</subject><subject>Genes</subject><subject>Genes. Genome</subject><subject>Genetic aspects</subject><subject>GTP Phosphohydrolases - genetics</subject><subject>GTP-Binding Proteins</subject><subject>Guanosine triphosphatase</subject><subject>hereditary spastic paraplegia</subject><subject>Human Genetics</subject><subject>Humans</subject><subject>Identification and classification</subject><subject>letter</subject><subject>Lod Score</subject><subject>Male</subject><subject>Membrane Proteins</subject><subject>Models, Molecular</subject><subject>Molecular and cellular biology</subject><subject>Molecular genetics</subject><subject>Molecular Sequence Data</subject><subject>Mutation</subject><subject>Mutation - genetics</subject><subject>Paralysis, Spastic</subject><subject>Pedigree</subject><subject>Peptides</subject><subject>Physiological aspects</subject><subject>Protein Conformation</subject><subject>Proteins</subject><subject>Publishing</subject><subject>Reverse Transcriptase Polymerase Chain Reaction</subject><subject>Risk factors</subject><subject>RNA, Messenger - genetics</subject><subject>RNA, Messenger - metabolism</subject><subject>Sequence Alignment</subject><subject>Sequence Homology, Amino Acid</subject><subject>Spastic Paraplegia, Hereditary - genetics</subject><subject>Spasticity</subject><subject>spastin</subject><subject>SPG3A gene</subject><subject>SPG4 gene</subject><subject>Struempell-Lorrain syndrome</subject><issn>1061-4036</issn><issn>1546-1718</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2001</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>eNqNkm9rFDEQxhdRbK39BIIsioovriabv_uyFK2FSkWrb5e5ZLKm7GavSRbttzfnHR4topIXCZnfPMPMPFV1SMkRJUy_Cb0S-l61TwWXC6qovl_eRNIFJ0zuVY9SuiKEck70w2qPUqlFQ9R-tfwwZ8h-Cqn2oYY64PfhpvYWQ_bOo61PLz9CwrrHgLWBuTxhzlOaRhhqO40-QMj1N4xofYZ4U6cVpOxNvYIIqwF7D4-rBw6GhIfb-6D68u7t5cn7xfnF6dnJ8fnCSC7yQjUOtDWtZI4vtaDC0BYEVxbbhlIGLbdKuCUqaoVl4DRxii-hdUgZQWHYQfVqo7uK0_WMKXejTwaHAQJOc-o0V5yppmWFfPlXUjWNIETLf4JUU9YKpgr47A54Nc0xlHa7pmmkZJLzAj3fQD0M2PngphzBrBW7Y6oZZ7Jl65pHf6DKsTh6MwV0vvzfSnh9K6EwGX_kviwrdWefP_0_e_H1Nvtiw5o4pRTRdavox7LjjpJu7bnul-cK93Tb-7wc0e6orcl2QsUaBgYXIRifdhynoqVS7aadSij0GHdDvFvxyQYMkOeIv5U20Z_ZrvDb</recordid><startdate>20011101</startdate><enddate>20011101</enddate><creator>Fink, John K</creator><creator>Zhao, Xinping</creator><creator>Alvarado, David</creator><creator>Rainier, Shirley</creator><creator>Lemons, Rosemary</creator><creator>Hedera, Peter</creator><creator>Weber, Christian H</creator><creator>Tukel, Turgut</creator><creator>Apak, Memnune</creator><creator>Heiman-Patterson, Terry</creator><creator>Ming, Lei</creator><creator>Bui, Melanie</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>IOV</scope><scope>ISR</scope><scope>3V.</scope><scope>7QL</scope><scope>7QP</scope><scope>7QR</scope><scope>7SS</scope><scope>7T7</scope><scope>7TK</scope><scope>7TM</scope><scope>7U9</scope><scope>7X7</scope><scope>7XB</scope><scope>88A</scope><scope>88E</scope><scope>8AO</scope><scope>8C1</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>AEUYN</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>C1K</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>GUQSH</scope><scope>H94</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>LK8</scope><scope>M0S</scope><scope>M1P</scope><scope>M2O</scope><scope>M7N</scope><scope>M7P</scope><scope>MBDVC</scope><scope>P64</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>Q9U</scope><scope>RC3</scope><scope>7X8</scope><scope>7U7</scope></search><sort><creationdate>20011101</creationdate><title>Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia</title><author>Fink, John K ; Zhao, Xinping ; Alvarado, David ; Rainier, Shirley ; Lemons, Rosemary ; Hedera, Peter ; Weber, Christian H ; Tukel, Turgut ; Apak, Memnune ; Heiman-Patterson, Terry ; Ming, Lei ; Bui, Melanie</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c645t-72fa8dc963f4b8515c19a547de92113a94d75fbe71d5d3af80f74ba9fe130e5c3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2001</creationdate><topic>Agriculture</topic><topic>Amino Acid Sequence</topic><topic>Animal Genetics and Genomics</topic><topic>Base Sequence</topic><topic>Biological and medical sciences</topic><topic>Biomedical and Life Sciences</topic><topic>Biomedicine</topic><topic>Cancer Research</topic><topic>chromosome 14</topic><topic>chromosome 2</topic><topic>Chromosomes</topic><topic>Chromosomes, Human, Pair 2 - genetics</topic><topic>Cloning</topic><topic>Cloning, Molecular</topic><topic>Complications and side effects</topic><topic>Contig Mapping</topic><topic>Diagnosis</topic><topic>Female</topic><topic>Fundamental and applied biological sciences. Psychology</topic><topic>Gene Function</topic><topic>Gene mutations</topic><topic>Genes</topic><topic>Genes. Genome</topic><topic>Genetic aspects</topic><topic>GTP Phosphohydrolases - genetics</topic><topic>GTP-Binding Proteins</topic><topic>Guanosine triphosphatase</topic><topic>hereditary spastic paraplegia</topic><topic>Human Genetics</topic><topic>Humans</topic><topic>Identification and classification</topic><topic>letter</topic><topic>Lod Score</topic><topic>Male</topic><topic>Membrane Proteins</topic><topic>Models, Molecular</topic><topic>Molecular and cellular biology</topic><topic>Molecular genetics</topic><topic>Molecular Sequence Data</topic><topic>Mutation</topic><topic>Mutation - genetics</topic><topic>Paralysis, Spastic</topic><topic>Pedigree</topic><topic>Peptides</topic><topic>Physiological aspects</topic><topic>Protein Conformation</topic><topic>Proteins</topic><topic>Publishing</topic><topic>Reverse Transcriptase Polymerase Chain Reaction</topic><topic>Risk factors</topic><topic>RNA, Messenger - genetics</topic><topic>RNA, Messenger - metabolism</topic><topic>Sequence Alignment</topic><topic>Sequence Homology, Amino Acid</topic><topic>Spastic Paraplegia, Hereditary - genetics</topic><topic>Spasticity</topic><topic>spastin</topic><topic>SPG3A gene</topic><topic>SPG4 gene</topic><topic>Struempell-Lorrain syndrome</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Fink, John K</creatorcontrib><creatorcontrib>Zhao, Xinping</creatorcontrib><creatorcontrib>Alvarado, David</creatorcontrib><creatorcontrib>Rainier, Shirley</creatorcontrib><creatorcontrib>Lemons, Rosemary</creatorcontrib><creatorcontrib>Hedera, Peter</creatorcontrib><creatorcontrib>Weber, Christian H</creatorcontrib><creatorcontrib>Tukel, Turgut</creatorcontrib><creatorcontrib>Apak, Memnune</creatorcontrib><creatorcontrib>Heiman-Patterson, Terry</creatorcontrib><creatorcontrib>Ming, Lei</creatorcontrib><creatorcontrib>Bui, Melanie</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>Gale In Context: Opposing Viewpoints</collection><collection>Gale In Context: Science</collection><collection>ProQuest Central (Corporate)</collection><collection>Bacteriology Abstracts (Microbiology B)</collection><collection>Calcium & Calcified Tissue Abstracts</collection><collection>Chemoreception Abstracts</collection><collection>Entomology Abstracts (Full archive)</collection><collection>Industrial and Applied Microbiology Abstracts (Microbiology A)</collection><collection>Neurosciences Abstracts</collection><collection>Nucleic Acids Abstracts</collection><collection>Virology and AIDS 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>ProQuest Pharma Collection</collection><collection>Public Health Database</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 One Sustainability</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>Environmental Sciences and Pollution Management</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>AIDS and Cancer Research Abstracts</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>Research Library</collection><collection>Algology Mycology and Protozoology Abstracts (Microbiology C)</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 Basic</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><collection>Toxicology Abstracts</collection><jtitle>Nature genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Fink, John K</au><au>Zhao, Xinping</au><au>Alvarado, David</au><au>Rainier, Shirley</au><au>Lemons, Rosemary</au><au>Hedera, Peter</au><au>Weber, Christian H</au><au>Tukel, Turgut</au><au>Apak, Memnune</au><au>Heiman-Patterson, Terry</au><au>Ming, Lei</au><au>Bui, Melanie</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia</atitle><jtitle>Nature genetics</jtitle><stitle>Nat Genet</stitle><addtitle>Nat Genet</addtitle><date>2001-11-01</date><risdate>2001</risdate><volume>29</volume><issue>3</issue><spage>326</spage><epage>331</epage><pages>326-331</pages><issn>1061-4036</issn><eissn>1546-1718</eissn><coden>NGENEC</coden><abstract>The hereditary spastic paraplegias (HSPs; Strümpell-Lorrain syndrome, MIM number 18260) are a diverse class of disorders characterized by insidiously progressive lower-extremity spastic weakness (reviewed in refs. 1-3). Eight autosomal dominant HSP (ADHSP) loci have been identified, the most frequent of which is that linked to the SPG4 locus on chromosome 2p22 (found in ∼42%), followed by that linked to the SPG3A locus on chromosome 14q11-q21 (in ∼9%). Only SPG4 has been identified as a causative gene in ADHSP. Its protein (spastin) is predicted to participate in the assembly or function of nuclear protein complexes. Here we report the identification of mutations in a newly identified GTPase gene, SPG3A, in ADHSP affected individuals.</abstract><cop>New York</cop><pub>Nature Publishing Group US</pub><pmid>11685207</pmid><doi>10.1038/ng758</doi><tpages>6</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 1061-4036 |
| ispartof | Nature genetics, 2001-11, Vol.29 (3), p.326-331 |
| issn | 1061-4036 1546-1718 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_847437293 |
| source | MEDLINE; SpringerLink Journals; Nature |
| subjects | Agriculture Amino Acid Sequence Animal Genetics and Genomics Base Sequence Biological and medical sciences Biomedical and Life Sciences Biomedicine Cancer Research chromosome 14 chromosome 2 Chromosomes Chromosomes, Human, Pair 2 - genetics Cloning Cloning, Molecular Complications and side effects Contig Mapping Diagnosis Female Fundamental and applied biological sciences. Psychology Gene Function Gene mutations Genes Genes. Genome Genetic aspects GTP Phosphohydrolases - genetics GTP-Binding Proteins Guanosine triphosphatase hereditary spastic paraplegia Human Genetics Humans Identification and classification letter Lod Score Male Membrane Proteins Models, Molecular Molecular and cellular biology Molecular genetics Molecular Sequence Data Mutation Mutation - genetics Paralysis, Spastic Pedigree Peptides Physiological aspects Protein Conformation Proteins Publishing Reverse Transcriptase Polymerase Chain Reaction Risk factors RNA, Messenger - genetics RNA, Messenger - metabolism Sequence Alignment Sequence Homology, Amino Acid Spastic Paraplegia, Hereditary - genetics Spasticity spastin SPG3A gene SPG4 gene Struempell-Lorrain syndrome |
| title | Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-17T10%3A31%3A26IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-gale_proqu&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Mutations%20in%20a%20newly%20identified%20GTPase%20gene%20cause%20autosomal%20dominant%20hereditary%20spastic%20paraplegia&rft.jtitle=Nature%20genetics&rft.au=Fink,%20John%20K&rft.date=2001-11-01&rft.volume=29&rft.issue=3&rft.spage=326&rft.epage=331&rft.pages=326-331&rft.issn=1061-4036&rft.eissn=1546-1718&rft.coden=NGENEC&rft_id=info:doi/10.1038/ng758&rft_dat=%3Cgale_proqu%3EA183436936%3C/gale_proqu%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=222663644&rft_id=info:pmid/11685207&rft_galeid=A183436936&rfr_iscdi=true |