The Ile93Met mutation in the ubiquitin carboxy-terminal-hydrolase-L1 gene is not observed in European cases with familial Parkinson's disease.
Identifieur interne : 001389 ( PubMed/Corpus ); précédent : 001388; suivant : 001390The Ile93Met mutation in the ubiquitin carboxy-terminal-hydrolase-L1 gene is not observed in European cases with familial Parkinson's disease.
Auteurs : B S Harhangi ; M J Farrer ; S. Lincoln ; V. Bonifati ; G. Meco ; G. De Michele ; A. Brice ; A. Dürr ; M. Martinez ; T. Gasser ; B. Bereznai ; J R Vaughan ; N W Wood ; J. Hardy ; B A Oostra ; M M BretelerSource :
- Neuroscience letters [ 0304-3940 ] ; 1999.
English descriptors
- KwdEn :
- Aged, Amino Acid Substitution, DNA Primers, European Continental Ancestry Group (genetics), Exons, Female, France, Germany, Humans, Italy, Male, Middle Aged, Nerve Tissue Proteins (genetics), Netherlands, Nuclear Family, Parkinson Disease (enzymology), Parkinson Disease (genetics), Point Mutation, Polymerase Chain Reaction, Thiolester Hydrolases (chemistry), Thiolester Hydrolases (genetics), Ubiquitin Thiolesterase.
- MESH :
- chemical , chemistry : Thiolester Hydrolases.
- chemical , genetics : Nerve Tissue Proteins, Thiolester Hydrolases.
- chemical : DNA Primers, Ubiquitin Thiolesterase.
- enzymology : Parkinson Disease.
- genetics : European Continental Ancestry Group, Parkinson Disease.
- Aged, Amino Acid Substitution, Exons, Female, France, Germany, Humans, Italy, Male, Middle Aged, Netherlands, Nuclear Family, Point Mutation, Polymerase Chain Reaction.
Abstract
Recently an Ile93Met mutation in the ubiquitin-carboxy-terminal-hydrolase-L1 gene (UCH-L1) has been described in a German family with Parkinson's disease (PD). The authors showed that this mutation is responsible for an impaired proteolytic activity of the UCH-L1 protein and may lead to an abnormal aggregation of proteins in the brain. In order to determine the importance of this or any other mutation in the coding region of the UCH-L1 gene in PD, we performed mutation analysis on Caucasian families with at least two affected sibs. We did not detect any mutations in the UCH-L1 gene, however, we cannot exclude mutations in the regulatory or intronic regions of the UCH-L1 gene since these regions were not sequenced. We conclude that the UCH-L1 gene is not a major gene responsible for familial PD.
PubMed: 10454131
Links to Exploration step
pubmed:10454131Le document en format XML
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Meco</name></author><author><name sortKey="De Michele, G" sort="De Michele, G" uniqKey="De Michele G" first="G" last="De Michele">G. De Michele</name></author><author><name sortKey="Brice, A" sort="Brice, A" uniqKey="Brice A" first="A" last="Brice">A. Brice</name></author><author><name sortKey="Durr, A" sort="Durr, A" uniqKey="Durr A" first="A" last="Dürr">A. Dürr</name></author><author><name sortKey="Martinez, M" sort="Martinez, M" uniqKey="Martinez M" first="M" last="Martinez">M. Martinez</name></author><author><name sortKey="Gasser, T" sort="Gasser, T" uniqKey="Gasser T" first="T" last="Gasser">T. Gasser</name></author><author><name sortKey="Bereznai, B" sort="Bereznai, B" uniqKey="Bereznai B" first="B" last="Bereznai">B. Bereznai</name></author><author><name sortKey="Vaughan, J R" sort="Vaughan, J R" uniqKey="Vaughan J" first="J R" last="Vaughan">J R Vaughan</name></author><author><name sortKey="Wood, N W" sort="Wood, N W" uniqKey="Wood N" first="N W" last="Wood">N W Wood</name></author><author><name sortKey="Hardy, J" sort="Hardy, J" uniqKey="Hardy J" first="J" last="Hardy">J. Hardy</name></author><author><name sortKey="Oostra, B A" sort="Oostra, B A" uniqKey="Oostra B" first="B A" last="Oostra">B A Oostra</name></author><author><name sortKey="Breteler, M M" sort="Breteler, M M" uniqKey="Breteler M" first="M M" last="Breteler">M M Breteler</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="1999">1999</date><idno type="RBID">pubmed:10454131</idno><idno type="pmid">10454131</idno><idno type="wicri:Area/PubMed/Corpus">001389</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">001389</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">The Ile93Met mutation in the ubiquitin carboxy-terminal-hydrolase-L1 gene is not observed in European cases with familial Parkinson's disease.</title><author><name sortKey="Harhangi, B S" sort="Harhangi, B S" uniqKey="Harhangi B" first="B S" last="Harhangi">B S Harhangi</name><affiliation><nlm:affiliation>Department of Epidemiology & Biostatistics, Erasmus University Medical School, Rotterdam, The Netherlands.</nlm:affiliation></affiliation></author><author><name sortKey="Farrer, M J" sort="Farrer, M J" uniqKey="Farrer M" first="M J" last="Farrer">M J Farrer</name></author><author><name sortKey="Lincoln, S" sort="Lincoln, S" uniqKey="Lincoln S" first="S" last="Lincoln">S. Lincoln</name></author><author><name sortKey="Bonifati, V" sort="Bonifati, V" uniqKey="Bonifati V" first="V" last="Bonifati">V. Bonifati</name></author><author><name sortKey="Meco, G" sort="Meco, G" uniqKey="Meco G" first="G" last="Meco">G. Meco</name></author><author><name sortKey="De Michele, G" sort="De Michele, G" uniqKey="De Michele G" first="G" last="De Michele">G. De Michele</name></author><author><name sortKey="Brice, A" sort="Brice, A" uniqKey="Brice A" first="A" last="Brice">A. Brice</name></author><author><name sortKey="Durr, A" sort="Durr, A" uniqKey="Durr A" first="A" last="Dürr">A. Dürr</name></author><author><name sortKey="Martinez, M" sort="Martinez, M" uniqKey="Martinez M" first="M" last="Martinez">M. Martinez</name></author><author><name sortKey="Gasser, T" sort="Gasser, T" uniqKey="Gasser T" first="T" last="Gasser">T. Gasser</name></author><author><name sortKey="Bereznai, B" sort="Bereznai, B" uniqKey="Bereznai B" first="B" last="Bereznai">B. Bereznai</name></author><author><name sortKey="Vaughan, J R" sort="Vaughan, J R" uniqKey="Vaughan J" first="J R" last="Vaughan">J R Vaughan</name></author><author><name sortKey="Wood, N W" sort="Wood, N W" uniqKey="Wood N" first="N W" last="Wood">N W Wood</name></author><author><name sortKey="Hardy, J" sort="Hardy, J" uniqKey="Hardy J" first="J" last="Hardy">J. Hardy</name></author><author><name sortKey="Oostra, B A" sort="Oostra, B A" uniqKey="Oostra B" first="B A" last="Oostra">B A Oostra</name></author><author><name sortKey="Breteler, M M" sort="Breteler, M M" uniqKey="Breteler M" first="M M" last="Breteler">M M Breteler</name></author></analytic><series><title level="j">Neuroscience letters</title><idno type="ISSN">0304-3940</idno><imprint><date when="1999" type="published">1999</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Aged</term><term>Amino Acid Substitution</term><term>DNA Primers</term><term>European Continental Ancestry Group (genetics)</term><term>Exons</term><term>Female</term><term>France</term><term>Germany</term><term>Humans</term><term>Italy</term><term>Male</term><term>Middle Aged</term><term>Nerve Tissue Proteins (genetics)</term><term>Netherlands</term><term>Nuclear Family</term><term>Parkinson Disease (enzymology)</term><term>Parkinson Disease (genetics)</term><term>Point Mutation</term><term>Polymerase Chain Reaction</term><term>Thiolester Hydrolases (chemistry)</term><term>Thiolester Hydrolases (genetics)</term><term>Ubiquitin Thiolesterase</term></keywords><keywords scheme="MESH" type="chemical" qualifier="chemistry" xml:lang="en"><term>Thiolester Hydrolases</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Nerve Tissue Proteins</term><term>Thiolester Hydrolases</term></keywords><keywords scheme="MESH" type="chemical" xml:lang="en"><term>DNA Primers</term><term>Ubiquitin Thiolesterase</term></keywords><keywords scheme="MESH" qualifier="enzymology" xml:lang="en"><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>European Continental Ancestry Group</term><term>Parkinson Disease</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Aged</term><term>Amino Acid Substitution</term><term>Exons</term><term>Female</term><term>France</term><term>Germany</term><term>Humans</term><term>Italy</term><term>Male</term><term>Middle Aged</term><term>Netherlands</term><term>Nuclear Family</term><term>Point Mutation</term><term>Polymerase Chain Reaction</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Recently an Ile93Met mutation in the ubiquitin-carboxy-terminal-hydrolase-L1 gene (UCH-L1) has been described in a German family with Parkinson's disease (PD). The authors showed that this mutation is responsible for an impaired proteolytic activity of the UCH-L1 protein and may lead to an abnormal aggregation of proteins in the brain. In order to determine the importance of this or any other mutation in the coding region of the UCH-L1 gene in PD, we performed mutation analysis on Caucasian families with at least two affected sibs. We did not detect any mutations in the UCH-L1 gene, however, we cannot exclude mutations in the regulatory or intronic regions of the UCH-L1 gene since these regions were not sequenced. We conclude that the UCH-L1 gene is not a major gene responsible for familial PD.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">10454131</PMID><DateCreated><Year>1999</Year><Month>09</Month><Day>16</Day></DateCreated><DateCompleted><Year>1999</Year><Month>09</Month><Day>16</Day></DateCompleted><DateRevised><Year>2016</Year><Month>11</Month><Day>24</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Print">0304-3940</ISSN><JournalIssue CitedMedium="Print"><Volume>270</Volume><Issue>1</Issue><PubDate><Year>1999</Year><Month>Jul</Month><Day>23</Day></PubDate></JournalIssue><Title>Neuroscience letters</Title><ISOAbbreviation>Neurosci. Lett.</ISOAbbreviation></Journal><ArticleTitle>The Ile93Met mutation in the ubiquitin carboxy-terminal-hydrolase-L1 gene is not observed in European cases with familial Parkinson's disease.</ArticleTitle><Pagination><MedlinePgn>1-4</MedlinePgn></Pagination><Abstract><AbstractText>Recently an Ile93Met mutation in the ubiquitin-carboxy-terminal-hydrolase-L1 gene (UCH-L1) has been described in a German family with Parkinson's disease (PD). The authors showed that this mutation is responsible for an impaired proteolytic activity of the UCH-L1 protein and may lead to an abnormal aggregation of proteins in the brain. In order to determine the importance of this or any other mutation in the coding region of the UCH-L1 gene in PD, we performed mutation analysis on Caucasian families with at least two affected sibs. We did not detect any mutations in the UCH-L1 gene, however, we cannot exclude mutations in the regulatory or intronic regions of the UCH-L1 gene since these regions were not sequenced. We conclude that the UCH-L1 gene is not a major gene responsible for familial PD.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Harhangi</LastName><ForeName>B S</ForeName><Initials>BS</Initials><AffiliationInfo><Affiliation>Department of Epidemiology & Biostatistics, Erasmus University Medical School, Rotterdam, The Netherlands.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Farrer</LastName><ForeName>M J</ForeName><Initials>MJ</Initials></Author><Author ValidYN="Y"><LastName>Lincoln</LastName><ForeName>S</ForeName><Initials>S</Initials></Author><Author ValidYN="Y"><LastName>Bonifati</LastName><ForeName>V</ForeName><Initials>V</Initials></Author><Author ValidYN="Y"><LastName>Meco</LastName><ForeName>G</ForeName><Initials>G</Initials></Author><Author ValidYN="Y"><LastName>De Michele</LastName><ForeName>G</ForeName><Initials>G</Initials></Author><Author ValidYN="Y"><LastName>Brice</LastName><ForeName>A</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Dürr</LastName><ForeName>A</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Martinez</LastName><ForeName>M</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Gasser</LastName><ForeName>T</ForeName><Initials>T</Initials></Author><Author ValidYN="Y"><LastName>Bereznai</LastName><ForeName>B</ForeName><Initials>B</Initials></Author><Author ValidYN="Y"><LastName>Vaughan</LastName><ForeName>J R</ForeName><Initials>JR</Initials></Author><Author ValidYN="Y"><LastName>Wood</LastName><ForeName>N W</ForeName><Initials>NW</Initials></Author><Author ValidYN="Y"><LastName>Hardy</LastName><ForeName>J</ForeName><Initials>J</Initials></Author><Author ValidYN="Y"><LastName>Oostra</LastName><ForeName>B A</ForeName><Initials>BA</Initials></Author><Author ValidYN="Y"><LastName>Breteler</LastName><ForeName>M M</ForeName><Initials>MM</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></Article><MedlineJournalInfo><Country>Ireland</Country><MedlineTA>Neurosci Lett</MedlineTA><NlmUniqueID>7600130</NlmUniqueID><ISSNLinking>0304-3940</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D017931">DNA Primers</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D009419">Nerve Tissue Proteins</NameOfSubstance></Chemical><Chemical><RegistryNumber>EC 3.1.2.-</RegistryNumber><NameOfSubstance UI="D013869">Thiolester Hydrolases</NameOfSubstance></Chemical><Chemical><RegistryNumber>EC 3.4.19.12</RegistryNumber><NameOfSubstance UI="D043222">Ubiquitin Thiolesterase</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName UI="D000368" MajorTopicYN="N">Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D019943" MajorTopicYN="Y">Amino Acid Substitution</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D017931" MajorTopicYN="N">DNA Primers</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D044465" MajorTopicYN="N">European Continental Ancestry Group</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D005091" MajorTopicYN="N">Exons</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005260" MajorTopicYN="N">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005602" MajorTopicYN="N">France</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005858" MajorTopicYN="N">Germany</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D007558" MajorTopicYN="N">Italy</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008875" MajorTopicYN="N">Middle Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D009419" MajorTopicYN="N">Nerve Tissue Proteins</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D009426" MajorTopicYN="N">Netherlands</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D009679" MajorTopicYN="N">Nuclear Family</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D010300" MajorTopicYN="N">Parkinson Disease</DescriptorName><QualifierName UI="Q000201" MajorTopicYN="N">enzymology</QualifierName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D017354" MajorTopicYN="Y">Point Mutation</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D016133" MajorTopicYN="N">Polymerase Chain Reaction</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D013869" MajorTopicYN="N">Thiolester Hydrolases</DescriptorName><QualifierName UI="Q000737" MajorTopicYN="N">chemistry</QualifierName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D043222" MajorTopicYN="N">Ubiquitin Thiolesterase</DescriptorName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>1999</Year><Month>8</Month><Day>24</Day></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>1999</Year><Month>8</Month><Day>24</Day><Hour>0</Hour><Minute>1</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>1999</Year><Month>8</Month><Day>24</Day><Hour>0</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">10454131</ArticleId><ArticleId IdType="pii">S0304-3940(99)00465-6</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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