ParkinsonFranceV1, PascalFrancis, Corpus, bibRecord, 001466

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 : 001467

The 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. Breteler

Source :

Neuroscience letters [ 0304-3940 ] ; 1999.

RBID : Pascal:99-0448948

Descripteurs français

Pascal (Inist)
- Génétique, Européen, Mutation, Gène, Ubiquitin thiolesterase, Parkinson maladie, Homme.

English descriptors

KwdEn :
- European, Gene, Genetics, Human, Mutation, Parkinson disease, Ubiquitin thiolesterase.

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.

Notice en format standard (ISO 2709)

Pour connaître la documentation sur le format Inist Standard.

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A14	`03`			`@1 Dipartimento di Scienze Neurologiche, Universita 'La Sapienza' @2 Rome @3 ITA @Z 4 aut. @Z 5 aut.`
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C01	`01`		`ENG`	@0 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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C03	`02`	`X`	`SPA`	`@0 Europeo @5 03`
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C07	`02`	`X`	`FRE`	`@0 Esterases @2 FE`
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C07	`04`	`X`	`FRE`	`@0 Enzyme`
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N21				`@1 284`

Format Inist (serveur)

NO :	PASCAL 99-0448948 INIST
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

Links to Exploration step

Pascal:99-0448948

Le document en format XML

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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">The Ile93Met mutation in the ubiquitin carboxy-terminal-hydrolase-l1 gene is not observed in European cases with familial Parkinson's disease</title>
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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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<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>
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	La maladie de Parkinson en France (serveur d'exploration)
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La maladie de Parkinson en France (serveur d'exploration)

The Ile93Met mutation in the ubiquitin carboxy-terminal-hydrolase-l1 gene is not observed in European cases with familial Parkinson's disease

The Ile93Met mutation in the ubiquitin carboxy-terminal-hydrolase-l1 gene is not observed in European cases with familial Parkinson's disease

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