Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia
- Author
- HAZAN, J1 ; FONKNECHTEN, N1 ; BROTTIER, P1 ; CATTOLICO, L1 ; BARBE, V1 ; BURGUNDER, J.-M6 ; PRUD'HOMME, J.-F7 ; BRICE, A3 4 5 ; FONTAINE, B2 3 ; HEILIG, R1 ; WEISSENBACH, J1 ; MAVEL, D1 ; PATERNOTTE, C1 ; SAMSON, D1 ; ARTIGUENAVE, F1 ; DAVOINE, C.-S2 ; CRUAUD, C1 ; DÜRR, A3 4 5 ; WINCKER, P1
[1] Genoscope, Evry, France
[2] INSERM CJF9711, Faculté de Médecine Pitié-Salpêtrière, Groupe Hospitalier Pitié-Salpêtrière, Paris, France
[3] Fédération de Neurologie, Groupe Hospitalier Pitié-Salpêtrière, Paris, France
[4] INSERM U289, Groupe Hospitalier Pitié-Salpêtrière, Paris, France
[5] Consultation de Génétique Médicale, Groupe Hospitalier Pitié-Salpêtrière, Paris, France
[6] Neurologische Klinik und Poliklinik, Universitätsspital Bern, Bern, Switzerland
[7] Généthon, Evry, France - Source
Nature genetics. 1999, Vol 23, Num 3, pp 296-303 ; ref : 48 ref
- Publisher
- Nature Publishing Group, London
- Publication country
- United Kingdom
- Document type
- Article
- Language
- English
- Keyword (fr)
- Adenosinetriphosphatase Etude familiale Expression génique Homme Homologie Localisation Mutation Paraplégie spasmodique héréditaire Strumpell Lorrain Protéine nucléaire Séquence nucléotide Domaine AAA Gène SPG4 Spastine Encéphale pathologie Enzyme Hydrolases Maladie dégénérative Maladie héréditaire Moelle épinière pathologie Système nerveux central pathologie Système nerveux pathologie
- Keyword (en)
- Adenosinetriphosphatase Family study Gene expression Human Homology Localization Mutation Hereditary spastic paraplegia Nuclear protein Nucleotide sequence Cerebral disorder Enzyme Hydrolases Degenerative disease Genetic disease Spinal cord disease Central nervous system disease Nervous system diseases
- Keyword (es)
- Adenosinetriphosphatase Estudio familiar Expresión genética Hombre Homología Localización Mutación Paraplejía espasmódica hereditaria Strumpell Lorrain Proteína nuclearia Secuencia nucleótido Encéfalo patología Enzima Hydrolases Enfermedad degenerativa Enfermedad hereditaria Médula espinal patología Sistema nervosio central patología Sistema nervioso patología
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B17 Neurology / 002B17G Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases
- Discipline
- Neurology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 1188172
Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS
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DOI
10.1038/15472 
https://dx.doi.org/10.1038/15472
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