The Ile93Met mutation in the ubiquitin carboxy-terminal-hydrolase-l1 gene is not observed in European cases with familial Parkinson's disease
Identifieur interne : 001466 ( PascalFrancis/Corpus ); précédent : 001465; suivant : 001467The 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. B. BretelerSource :
- Neuroscience letters [ 0304-3940 ] ; 1999.
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- Pascal (Inist)
English descriptors
- KwdEn :
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.
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NO : | PASCAL 99-0448948 INIST |
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ET : | The Ile93Met mutation in the ubiquitin carboxy-terminal-hydrolase-l1 gene is not observed in European cases with familial Parkinson's disease |
AU : | HARHANGI (B. S.); FARRER (M. J.); LINCOLN (S.); BONIFATI (V.); MECO (G.); DE MICHELE (G.); BRICE (A.); DÜRR (A.); MARTINEZ (M.); GASSER (T.); BEREZNAI (B.); VAUGHAN (J. R.); WOOD (N. W.); HARDY (J.); OOSTRA (B. A.); BRETELER (M. M. B.) |
AF : | Department of Epidemiology & Biostatistics, Erasmus University Medical School/Rotterdam/Pays-Bas (1 aut., 16 aut.); Department of Neurogenetics, Mayo Clinic Jacksonville/Jacksonville, FL 32224/Etats-Unis (2 aut., 3 aut., 14 aut.); Dipartimento di Scienze Neurologiche, Universita 'La Sapienza'/Rome/Italie (4 aut., 5 aut.); Dipartimento di Scienze Neurologiche, Universita Frederico II/Napels/Italie (6 aut.); INSERM U289/Paris/France (7 aut., 8 aut.); INSERM U358/Paris/France (9 aut.); Department of Neurology, Klinikum Grosshadern/Munich/Allemagne (10 aut., 11 aut.); University Department of Clinical Neurology, Institute of Neurology, Queen Square/London, WC1N 3BG/Royaume-Uni (12 aut., 13 aut.); Department of Clinical Genetics, Erasmus University Medical School/Rotterdam/Pays-Bas (15 aut.) |
DT : | Publication en série; Niveau analytique |
SO : | Neuroscience letters; ISSN 0304-3940; Coden NELED5; Irlande; Da. 1999; Vol. 270; No. 1; Pp. 1-4; Bibl. 20 ref. |
LA : | Anglais |
EA : | 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. |
CC : | 002B17G |
FD : | Génétique; Européen; Mutation; Gène; Ubiquitin thiolesterase; Parkinson maladie; Homme |
FG : | Thiolester hydrolases; Esterases; Hydrolases; Enzyme; Système nerveux pathologie; Système nerveux central pathologie; Encéphale pathologie; Extrapyramidal syndrome; Maladie dégénérative |
ED : | Genetics; European; Mutation; Gene; Ubiquitin thiolesterase; Parkinson disease; Human |
EG : | Thiolester hydrolases; Esterases; Hydrolases; Enzyme; Nervous system diseases; Central nervous system disease; Cerebral disorder; Extrapyramidal syndrome; Degenerative disease |
SD : | Genética; Europeo; Mutación; Gen; Ubiquitin thiolesterase; Parkinson enfermedad; Hombre |
LO : | INIST-17240.354000085729770010 |
ID : | 99-0448948 |
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Pascal:99-0448948Le document en format XML
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<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>
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<fA08 i1="01" i2="1" l="ENG"><s1>The Ile93Met mutation in the ubiquitin carboxy-terminal-hydrolase-l1 gene is not observed in European cases with familial Parkinson's disease</s1>
</fA08>
<fA11 i1="01" i2="1"><s1>HARHANGI (B. S.)</s1>
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<fA11 i1="02" i2="1"><s1>FARRER (M. J.)</s1>
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<fA11 i1="03" i2="1"><s1>LINCOLN (S.)</s1>
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<fA11 i1="12" i2="1"><s1>VAUGHAN (J. R.)</s1>
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<fA11 i1="13" i2="1"><s1>WOOD (N. W.)</s1>
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<fA11 i1="16" i2="1"><s1>BRETELER (M. M. B.)</s1>
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<fA14 i1="01"><s1>Department of Epidemiology & Biostatistics, Erasmus University Medical School</s1>
<s2>Rotterdam</s2>
<s3>NLD</s3>
<sZ>1 aut.</sZ>
<sZ>16 aut.</sZ>
</fA14>
<fA14 i1="02"><s1>Department of Neurogenetics, Mayo Clinic Jacksonville</s1>
<s2>Jacksonville, FL 32224</s2>
<s3>USA</s3>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>14 aut.</sZ>
</fA14>
<fA14 i1="03"><s1>Dipartimento di Scienze Neurologiche, Universita 'La Sapienza'</s1>
<s2>Rome</s2>
<s3>ITA</s3>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
</fA14>
<fA14 i1="04"><s1>Dipartimento di Scienze Neurologiche, Universita Frederico II</s1>
<s2>Napels</s2>
<s3>ITA</s3>
<sZ>6 aut.</sZ>
</fA14>
<fA14 i1="05"><s1>INSERM U289</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>7 aut.</sZ>
<sZ>8 aut.</sZ>
</fA14>
<fA14 i1="06"><s1>INSERM U358</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>9 aut.</sZ>
</fA14>
<fA14 i1="07"><s1>Department of Neurology, Klinikum Grosshadern</s1>
<s2>Munich</s2>
<s3>DEU</s3>
<sZ>10 aut.</sZ>
<sZ>11 aut.</sZ>
</fA14>
<fA14 i1="08"><s1>University Department of Clinical Neurology, Institute of Neurology, Queen Square</s1>
<s2>London, WC1N 3BG</s2>
<s3>GBR</s3>
<sZ>12 aut.</sZ>
<sZ>13 aut.</sZ>
</fA14>
<fA14 i1="09"><s1>Department of Clinical Genetics, Erasmus University Medical School</s1>
<s2>Rotterdam</s2>
<s3>NLD</s3>
<sZ>15 aut.</sZ>
</fA14>
<fA20><s1>1-4</s1>
</fA20>
<fA21><s1>1999</s1>
</fA21>
<fA23 i1="01"><s0>ENG</s0>
</fA23>
<fA43 i1="01"><s1>INIST</s1>
<s2>17240</s2>
<s5>354000085729770010</s5>
</fA43>
<fA44><s0>0000</s0>
<s1>© 1999 INIST-CNRS. All rights reserved.</s1>
</fA44>
<fA45><s0>20 ref.</s0>
</fA45>
<fA47 i1="01" i2="1"><s0>99-0448948</s0>
</fA47>
<fA60><s1>P</s1>
</fA60>
<fA61><s0>A</s0>
</fA61>
<fA64 i1="01" i2="1"><s0>Neuroscience letters</s0>
</fA64>
<fA66 i1="01"><s0>IRL</s0>
</fA66>
<fC01 i1="01" l="ENG"><s0>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.</s0>
</fC01>
<fC02 i1="01" i2="X"><s0>002B17G</s0>
</fC02>
<fC03 i1="01" i2="X" l="FRE"><s0>Génétique</s0>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="ENG"><s0>Genetics</s0>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="SPA"><s0>Genética</s0>
<s5>01</s5>
</fC03>
<fC03 i1="02" i2="X" l="FRE"><s0>Européen</s0>
<s5>03</s5>
</fC03>
<fC03 i1="02" i2="X" l="ENG"><s0>European</s0>
<s5>03</s5>
</fC03>
<fC03 i1="02" i2="X" l="SPA"><s0>Europeo</s0>
<s5>03</s5>
</fC03>
<fC03 i1="03" i2="X" l="FRE"><s0>Mutation</s0>
<s5>04</s5>
</fC03>
<fC03 i1="03" i2="X" l="ENG"><s0>Mutation</s0>
<s5>04</s5>
</fC03>
<fC03 i1="03" i2="X" l="SPA"><s0>Mutación</s0>
<s5>04</s5>
</fC03>
<fC03 i1="04" i2="X" l="FRE"><s0>Gène</s0>
<s5>05</s5>
</fC03>
<fC03 i1="04" i2="X" l="ENG"><s0>Gene</s0>
<s5>05</s5>
</fC03>
<fC03 i1="04" i2="X" l="SPA"><s0>Gen</s0>
<s5>05</s5>
</fC03>
<fC03 i1="05" i2="X" l="FRE"><s0>Ubiquitin thiolesterase</s0>
<s2>FE</s2>
<s5>06</s5>
</fC03>
<fC03 i1="05" i2="X" l="ENG"><s0>Ubiquitin thiolesterase</s0>
<s2>FE</s2>
<s5>06</s5>
</fC03>
<fC03 i1="05" i2="X" l="SPA"><s0>Ubiquitin thiolesterase</s0>
<s2>FE</s2>
<s5>06</s5>
</fC03>
<fC03 i1="06" i2="X" l="FRE"><s0>Parkinson maladie</s0>
<s5>09</s5>
</fC03>
<fC03 i1="06" i2="X" l="ENG"><s0>Parkinson disease</s0>
<s5>09</s5>
</fC03>
<fC03 i1="06" i2="X" l="SPA"><s0>Parkinson enfermedad</s0>
<s5>09</s5>
</fC03>
<fC03 i1="07" i2="X" l="FRE"><s0>Homme</s0>
<s5>54</s5>
</fC03>
<fC03 i1="07" i2="X" l="ENG"><s0>Human</s0>
<s5>54</s5>
</fC03>
<fC03 i1="07" i2="X" l="SPA"><s0>Hombre</s0>
<s5>54</s5>
</fC03>
<fC07 i1="01" i2="X" l="FRE"><s0>Thiolester hydrolases</s0>
<s2>FE</s2>
</fC07>
<fC07 i1="01" i2="X" l="ENG"><s0>Thiolester hydrolases</s0>
<s2>FE</s2>
</fC07>
<fC07 i1="01" i2="X" l="SPA"><s0>Thiolester hydrolases</s0>
<s2>FE</s2>
</fC07>
<fC07 i1="02" i2="X" l="FRE"><s0>Esterases</s0>
<s2>FE</s2>
</fC07>
<fC07 i1="02" i2="X" l="ENG"><s0>Esterases</s0>
<s2>FE</s2>
</fC07>
<fC07 i1="02" i2="X" l="SPA"><s0>Esterases</s0>
<s2>FE</s2>
</fC07>
<fC07 i1="03" i2="X" l="FRE"><s0>Hydrolases</s0>
<s2>FE</s2>
</fC07>
<fC07 i1="03" i2="X" l="ENG"><s0>Hydrolases</s0>
<s2>FE</s2>
</fC07>
<fC07 i1="03" i2="X" l="SPA"><s0>Hydrolases</s0>
<s2>FE</s2>
</fC07>
<fC07 i1="04" i2="X" l="FRE"><s0>Enzyme</s0>
</fC07>
<fC07 i1="04" i2="X" l="ENG"><s0>Enzyme</s0>
</fC07>
<fC07 i1="04" i2="X" l="SPA"><s0>Enzima</s0>
</fC07>
<fC07 i1="05" i2="X" l="FRE"><s0>Système nerveux pathologie</s0>
<s5>38</s5>
</fC07>
<fC07 i1="05" i2="X" l="ENG"><s0>Nervous system diseases</s0>
<s5>38</s5>
</fC07>
<fC07 i1="05" i2="X" l="SPA"><s0>Sistema nervioso patología</s0>
<s5>38</s5>
</fC07>
<fC07 i1="06" i2="X" l="FRE"><s0>Système nerveux central pathologie</s0>
<s5>39</s5>
</fC07>
<fC07 i1="06" i2="X" l="ENG"><s0>Central nervous system disease</s0>
<s5>39</s5>
</fC07>
<fC07 i1="06" i2="X" l="SPA"><s0>Sistema nervosio central patología</s0>
<s5>39</s5>
</fC07>
<fC07 i1="07" i2="X" l="FRE"><s0>Encéphale pathologie</s0>
<s5>40</s5>
</fC07>
<fC07 i1="07" i2="X" l="ENG"><s0>Cerebral disorder</s0>
<s5>40</s5>
</fC07>
<fC07 i1="07" i2="X" l="SPA"><s0>Encéfalo patología</s0>
<s5>40</s5>
</fC07>
<fC07 i1="08" i2="X" l="FRE"><s0>Extrapyramidal syndrome</s0>
<s5>41</s5>
</fC07>
<fC07 i1="08" i2="X" l="ENG"><s0>Extrapyramidal syndrome</s0>
<s5>41</s5>
</fC07>
<fC07 i1="08" i2="X" l="SPA"><s0>Extrapiramidal síndrome</s0>
<s5>41</s5>
</fC07>
<fC07 i1="09" i2="X" l="FRE"><s0>Maladie dégénérative</s0>
<s5>42</s5>
</fC07>
<fC07 i1="09" i2="X" l="ENG"><s0>Degenerative disease</s0>
<s5>42</s5>
</fC07>
<fC07 i1="09" i2="X" l="SPA"><s0>Enfermedad degenerativa</s0>
<s5>42</s5>
</fC07>
<fN21><s1>284</s1>
</fN21>
</pA>
</standard>
<server><NO>PASCAL 99-0448948 INIST</NO>
<ET>The Ile93Met mutation in the ubiquitin carboxy-terminal-hydrolase-l1 gene is not observed in European cases with familial Parkinson's disease</ET>
<AU>HARHANGI (B. S.); FARRER (M. J.); LINCOLN (S.); BONIFATI (V.); MECO (G.); DE MICHELE (G.); BRICE (A.); DÜRR (A.); MARTINEZ (M.); GASSER (T.); BEREZNAI (B.); VAUGHAN (J. R.); WOOD (N. W.); HARDY (J.); OOSTRA (B. A.); BRETELER (M. M. B.)</AU>
<AF>Department of Epidemiology & Biostatistics, Erasmus University Medical School/Rotterdam/Pays-Bas (1 aut., 16 aut.); Department of Neurogenetics, Mayo Clinic Jacksonville/Jacksonville, FL 32224/Etats-Unis (2 aut., 3 aut., 14 aut.); Dipartimento di Scienze Neurologiche, Universita 'La Sapienza'/Rome/Italie (4 aut., 5 aut.); Dipartimento di Scienze Neurologiche, Universita Frederico II/Napels/Italie (6 aut.); INSERM U289/Paris/France (7 aut., 8 aut.); INSERM U358/Paris/France (9 aut.); Department of Neurology, Klinikum Grosshadern/Munich/Allemagne (10 aut., 11 aut.); University Department of Clinical Neurology, Institute of Neurology, Queen Square/London, WC1N 3BG/Royaume-Uni (12 aut., 13 aut.); Department of Clinical Genetics, Erasmus University Medical School/Rotterdam/Pays-Bas (15 aut.)</AF>
<DT>Publication en série; Niveau analytique</DT>
<SO>Neuroscience letters; ISSN 0304-3940; Coden NELED5; Irlande; Da. 1999; Vol. 270; No. 1; Pp. 1-4; Bibl. 20 ref.</SO>
<LA>Anglais</LA>
<EA>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.</EA>
<CC>002B17G</CC>
<FD>Génétique; Européen; Mutation; Gène; Ubiquitin thiolesterase; Parkinson maladie; Homme</FD>
<FG>Thiolester hydrolases; Esterases; Hydrolases; Enzyme; Système nerveux pathologie; Système nerveux central pathologie; Encéphale pathologie; Extrapyramidal syndrome; Maladie dégénérative</FG>
<ED>Genetics; European; Mutation; Gene; Ubiquitin thiolesterase; Parkinson disease; Human</ED>
<EG>Thiolester hydrolases; Esterases; Hydrolases; Enzyme; Nervous system diseases; Central nervous system disease; Cerebral disorder; Extrapyramidal syndrome; Degenerative disease</EG>
<SD>Genética; Europeo; Mutación; Gen; Ubiquitin thiolesterase; Parkinson enfermedad; Hombre</SD>
<LO>INIST-17240.354000085729770010</LO>
<ID>99-0448948</ID>
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