LRRK2 haplotype-sharing analysis in Parkinson's disease reveals a novel p.S1761R mutation.
Identifieur interne : 000F80 ( PubMed/Curation ); précédent : 000F79; suivant : 000F81LRRK2 haplotype-sharing analysis in Parkinson's disease reveals a novel p.S1761R mutation.
Auteurs : Oswaldo Lorenzo-Betancor [Espagne] ; Lluís Samaranch ; Mario Ezquerra ; Eduardo Tolosa ; Elena Lorenzo ; Jaione Irigoyen ; Carles Gaig ; María A. Pastor ; Alexandra I. Soto-Ortolaza ; Owen A. Ross ; María C. Rodríguez-Oroz ; Francesc Valldeoriola ; María J. Martí ; María R. Luquin ; Jordi Perez-Tur ; Juan A. Burguera ; José A. Obeso ; Pau PastorSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2012.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Arginine, Protein-Serine-Threonine Kinases, Serine.
- genetics : Mutation, Parkinson Disease.
- Adult, Age Factors, Aged, Chromosomes, Human, Pair 12, DNA Mutational Analysis, Family Health, Female, Genetic Linkage, Haplotypes, Humans, Male, Middle Aged.
Abstract
Mutations in the Leucine-Rich Repeat Kinase 2 (LRRK2) gene at chromosome 12q12 are the most common genetic cause of sporadic and familial late-onset Parkinson's disease. Our aim was to identify novel LRRK2 mutations in late-onset Parkinson's disease families.
DOI: 10.1002/mds.23968
PubMed: 22038903
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Pastor</name></author><author><name sortKey="Soto Ortolaza, Alexandra I" sort="Soto Ortolaza, Alexandra I" uniqKey="Soto Ortolaza A" first="Alexandra I" last="Soto-Ortolaza">Alexandra I. Soto-Ortolaza</name></author><author><name sortKey="Ross, Owen A" sort="Ross, Owen A" uniqKey="Ross O" first="Owen A" last="Ross">Owen A. Ross</name></author><author><name sortKey="Rodriguez Oroz, Maria C" sort="Rodriguez Oroz, Maria C" uniqKey="Rodriguez Oroz M" first="María C" last="Rodríguez-Oroz">María C. Rodríguez-Oroz</name></author><author><name sortKey="Valldeoriola, Francesc" sort="Valldeoriola, Francesc" uniqKey="Valldeoriola F" first="Francesc" last="Valldeoriola">Francesc Valldeoriola</name></author><author><name sortKey="Marti, Maria J" sort="Marti, Maria J" uniqKey="Marti M" first="María J" last="Martí">María J. Martí</name></author><author><name sortKey="Luquin, Maria R" sort="Luquin, Maria R" uniqKey="Luquin M" first="María R" last="Luquin">María R. Luquin</name></author><author><name sortKey="Perez Tur, Jordi" sort="Perez Tur, Jordi" uniqKey="Perez Tur J" first="Jordi" last="Perez-Tur">Jordi Perez-Tur</name></author><author><name sortKey="Burguera, Juan A" sort="Burguera, Juan A" uniqKey="Burguera J" first="Juan A" last="Burguera">Juan A. Burguera</name></author><author><name sortKey="Obeso, Jose A" sort="Obeso, Jose A" uniqKey="Obeso J" first="José A" last="Obeso">José A. Obeso</name></author><author><name sortKey="Pastor, Pau" sort="Pastor, Pau" uniqKey="Pastor P" first="Pau" last="Pastor">Pau Pastor</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2012">2012</date><idno type="doi">10.1002/mds.23968</idno><idno type="RBID">pubmed:22038903</idno><idno type="pmid">22038903</idno><idno type="wicri:Area/PubMed/Corpus">000F80</idno><idno type="wicri:Area/PubMed/Curation">000F80</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">LRRK2 haplotype-sharing analysis in Parkinson's disease reveals a novel p.S1761R mutation.</title><author><name sortKey="Lorenzo Betancor, Oswaldo" sort="Lorenzo Betancor, Oswaldo" uniqKey="Lorenzo Betancor O" first="Oswaldo" last="Lorenzo-Betancor">Oswaldo Lorenzo-Betancor</name><affiliation wicri:level="1"><nlm:affiliation>Neurogenetics Laboratory, Division of Neurosciences, Center for Applied Medical Research, University of Navarra, Pamplona, Spain.</nlm:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Neurogenetics Laboratory, Division of Neurosciences, Center for Applied Medical Research, University of Navarra, Pamplona</wicri:regionArea></affiliation></author><author><name sortKey="Samaranch, Lluis" sort="Samaranch, Lluis" uniqKey="Samaranch L" first="Lluís" last="Samaranch">Lluís Samaranch</name></author><author><name sortKey="Ezquerra, Mario" sort="Ezquerra, Mario" uniqKey="Ezquerra M" first="Mario" last="Ezquerra">Mario Ezquerra</name></author><author><name sortKey="Tolosa, Eduardo" sort="Tolosa, Eduardo" uniqKey="Tolosa E" first="Eduardo" last="Tolosa">Eduardo Tolosa</name></author><author><name sortKey="Lorenzo, Elena" sort="Lorenzo, Elena" uniqKey="Lorenzo E" first="Elena" last="Lorenzo">Elena Lorenzo</name></author><author><name sortKey="Irigoyen, Jaione" sort="Irigoyen, Jaione" uniqKey="Irigoyen J" first="Jaione" last="Irigoyen">Jaione Irigoyen</name></author><author><name sortKey="Gaig, Carles" sort="Gaig, Carles" uniqKey="Gaig C" first="Carles" last="Gaig">Carles Gaig</name></author><author><name sortKey="Pastor, Maria A" sort="Pastor, Maria A" uniqKey="Pastor M" first="María A" last="Pastor">María A. Pastor</name></author><author><name sortKey="Soto Ortolaza, Alexandra I" sort="Soto Ortolaza, Alexandra I" uniqKey="Soto Ortolaza A" first="Alexandra I" last="Soto-Ortolaza">Alexandra I. Soto-Ortolaza</name></author><author><name sortKey="Ross, Owen A" sort="Ross, Owen A" uniqKey="Ross O" first="Owen A" last="Ross">Owen A. Ross</name></author><author><name sortKey="Rodriguez Oroz, Maria C" sort="Rodriguez Oroz, Maria C" uniqKey="Rodriguez Oroz M" first="María C" last="Rodríguez-Oroz">María C. Rodríguez-Oroz</name></author><author><name sortKey="Valldeoriola, Francesc" sort="Valldeoriola, Francesc" uniqKey="Valldeoriola F" first="Francesc" last="Valldeoriola">Francesc Valldeoriola</name></author><author><name sortKey="Marti, Maria J" sort="Marti, Maria J" uniqKey="Marti M" first="María J" last="Martí">María J. Martí</name></author><author><name sortKey="Luquin, Maria R" sort="Luquin, Maria R" uniqKey="Luquin M" first="María R" last="Luquin">María R. Luquin</name></author><author><name sortKey="Perez Tur, Jordi" sort="Perez Tur, Jordi" uniqKey="Perez Tur J" first="Jordi" last="Perez-Tur">Jordi Perez-Tur</name></author><author><name sortKey="Burguera, Juan A" sort="Burguera, Juan A" uniqKey="Burguera J" first="Juan A" last="Burguera">Juan A. Burguera</name></author><author><name sortKey="Obeso, Jose A" sort="Obeso, Jose A" uniqKey="Obeso J" first="José A" last="Obeso">José A. Obeso</name></author><author><name sortKey="Pastor, Pau" sort="Pastor, Pau" uniqKey="Pastor P" first="Pau" last="Pastor">Pau Pastor</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="eISSN">1531-8257</idno><imprint><date when="2012" type="published">2012</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Age Factors</term><term>Aged</term><term>Arginine (genetics)</term><term>Chromosomes, Human, Pair 12</term><term>DNA Mutational Analysis</term><term>Family Health</term><term>Female</term><term>Genetic Linkage</term><term>Haplotypes</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Mutation (genetics)</term><term>Parkinson Disease (genetics)</term><term>Protein-Serine-Threonine Kinases (genetics)</term><term>Serine (genetics)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Arginine</term><term>Protein-Serine-Threonine Kinases</term><term>Serine</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Mutation</term><term>Parkinson Disease</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Age Factors</term><term>Aged</term><term>Chromosomes, Human, Pair 12</term><term>DNA Mutational Analysis</term><term>Family Health</term><term>Female</term><term>Genetic Linkage</term><term>Haplotypes</term><term>Humans</term><term>Male</term><term>Middle Aged</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Mutations in the Leucine-Rich Repeat Kinase 2 (LRRK2) gene at chromosome 12q12 are the most common genetic cause of sporadic and familial late-onset Parkinson's disease. Our aim was to identify novel LRRK2 mutations in late-onset Parkinson's disease families.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">22038903</PMID><DateCreated><Year>2012</Year><Month>01</Month><Day>18</Day></DateCreated><DateCompleted><Year>2012</Year><Month>05</Month><Day>21</Day></DateCompleted><DateRevised><Year>2013</Year><Month>11</Month><Day>21</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1531-8257</ISSN><JournalIssue CitedMedium="Internet"><Volume>27</Volume><Issue>1</Issue><PubDate><Year>2012</Year><Month>Jan</Month></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>LRRK2 haplotype-sharing analysis in Parkinson's disease reveals a novel p.S1761R mutation.</ArticleTitle><Pagination><MedlinePgn>146-51</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1002/mds.23968</ELocationID><Abstract><AbstractText Label="BACKGROUND AND OBJECTIVE" NlmCategory="OBJECTIVE">Mutations in the Leucine-Rich Repeat Kinase 2 (LRRK2) gene at chromosome 12q12 are the most common genetic cause of sporadic and familial late-onset Parkinson's disease. Our aim was to identify novel LRRK2 mutations in late-onset Parkinson's disease families.</AbstractText><AbstractText Label="DESIGN" NlmCategory="METHODS">We analyzed chromosome 12p11.2-q13.1 haplotypes in 14 late-onset Parkinson's disease families without known LRRK2 mutations.</AbstractText><AbstractText Label="RESULTS" NlmCategory="RESULTS">Haplotype analysis identified 12 families in which the affected subjects shared chromosome 12p11.2-q13.1 haplotypes. LRRK2 sequencing revealed a novel co-segregating missense mutation in exon 36 (c.5281A>C; p.S1761R) located within a highly conserved region of the COR [C-terminal of ROC (Ras of complex proteins)] domain wherein it could deregulate LRRK2 kinase activity by modifying ROC-COR dimer stability. p.S1761R was present in a late-onset Parkinson's disease family and in 2 unrelated Parkinson's disease subjects, but not in 2491 healthy controls. LRRK2 p.S1761R carriers developed levodopa-responsive asymmetrical parkinsonism, with variable age at onset (range: 37-72 years) suggesting age-dependent penetrance. These findings indicate that mutations interfering with LRRK2 ROC-COR domain dimerization lead to typical Parkinson's disease.</AbstractText><CopyrightInformation>Copyright © 2011 Movement Disorder Society.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Lorenzo-Betancor</LastName><ForeName>Oswaldo</ForeName><Initials>O</Initials><AffiliationInfo><Affiliation>Neurogenetics Laboratory, Division of Neurosciences, Center for Applied Medical Research, University of Navarra, Pamplona, Spain.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Samaranch</LastName><ForeName>Lluís</ForeName><Initials>L</Initials></Author><Author ValidYN="Y"><LastName>Ezquerra</LastName><ForeName>Mario</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Tolosa</LastName><ForeName>Eduardo</ForeName><Initials>E</Initials></Author><Author ValidYN="Y"><LastName>Lorenzo</LastName><ForeName>Elena</ForeName><Initials>E</Initials></Author><Author ValidYN="Y"><LastName>Irigoyen</LastName><ForeName>Jaione</ForeName><Initials>J</Initials></Author><Author ValidYN="Y"><LastName>Gaig</LastName><ForeName>Carles</ForeName><Initials>C</Initials></Author><Author ValidYN="Y"><LastName>Pastor</LastName><ForeName>María A</ForeName><Initials>MA</Initials></Author><Author ValidYN="Y"><LastName>Soto-Ortolaza</LastName><ForeName>Alexandra I</ForeName><Initials>AI</Initials></Author><Author ValidYN="Y"><LastName>Ross</LastName><ForeName>Owen A</ForeName><Initials>OA</Initials></Author><Author ValidYN="Y"><LastName>Rodríguez-Oroz</LastName><ForeName>María C</ForeName><Initials>MC</Initials></Author><Author ValidYN="Y"><LastName>Valldeoriola</LastName><ForeName>Francesc</ForeName><Initials>F</Initials></Author><Author ValidYN="Y"><LastName>Martí</LastName><ForeName>María J</ForeName><Initials>MJ</Initials></Author><Author ValidYN="Y"><LastName>Luquin</LastName><ForeName>María R</ForeName><Initials>MR</Initials></Author><Author ValidYN="Y"><LastName>Perez-Tur</LastName><ForeName>Jordi</ForeName><Initials>J</Initials></Author><Author ValidYN="Y"><LastName>Burguera</LastName><ForeName>Juan A</ForeName><Initials>JA</Initials></Author><Author ValidYN="Y"><LastName>Obeso</LastName><ForeName>José A</ForeName><Initials>JA</Initials></Author><Author ValidYN="Y"><LastName>Pastor</LastName><ForeName>Pau</ForeName><Initials>P</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2011</Year><Month>10</Month><Day>28</Day></ArticleDate></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Mov Disord</MedlineTA><NlmUniqueID>8610688</NlmUniqueID><ISSNLinking>0885-3185</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>452VLY9402</RegistryNumber><NameOfSubstance UI="D012694">Serine</NameOfSubstance></Chemical><Chemical><RegistryNumber>94ZLA3W45F</RegistryNumber><NameOfSubstance UI="D001120">Arginine</NameOfSubstance></Chemical><Chemical><RegistryNumber>EC 2.7.11.1</RegistryNumber><NameOfSubstance UI="C495280">LRRK2 protein, human</NameOfSubstance></Chemical><Chemical><RegistryNumber>EC 2.7.11.1</RegistryNumber><NameOfSubstance UI="D017346">Protein-Serine-Threonine Kinases</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000328">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000367">Age Factors</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000368">Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D001120">Arginine</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D002881">Chromosomes, Human, Pair 12</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D004252">DNA Mutational Analysis</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005192">Family Health</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005260">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008040">Genetic Linkage</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006239">Haplotypes</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008875">Middle Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D009154">Mutation</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D010300">Parkinson Disease</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D017346">Protein-Serine-Threonine Kinases</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D012694">Serine</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="aheadofprint"><Year>2011</Year><Month>10</Month><Day>28</Day></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2011</Year><Month>11</Month><Day>1</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2011</Year><Month>11</Month><Day>1</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2012</Year><Month>5</Month><Day>23</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="doi">10.1002/mds.23968</ArticleId><ArticleId IdType="pubmed">22038903</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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