C
Christian Lavedan
Researcher at National Institutes of Health
Publications - 56
Citations - 10709
Christian Lavedan is an academic researcher from National Institutes of Health. The author has contributed to research in topics: Iloperidone & Single-nucleotide polymorphism. The author has an hindex of 21, co-authored 56 publications receiving 10040 citations. Previous affiliations of Christian Lavedan include Novartis & Johns Hopkins Bayview Medical Center.
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Journal ArticleDOI
Mutation in the α-synuclein gene identified in families with Parkinson's disease
Mihael H. Polymeropoulos,Christian Lavedan,Elisabeth Leroy,Susan E. Ide,Anindya Dehejia,Amalia Dutra,Brian L. Pike,Holly Root,Jeffrey Rubenstein,Rebecca Boyer,Edward S. Stenroos,Settara C. Chandrasekharappa,Aglaia Athanassiadou,Theodore Papapetropoulos,William G. Johnson,Alice Lazzarini,Roger C. Duvoisin,Giuseppe Di Iorio,Lawrence I. Golbe,Robert L. Nussbaum +19 more
TL;DR: A mutation was identified in the α-synuclein gene, which codes for a presynaptic protein thought to be involved in neuronal plasticity, in the Italian kindred and in three unrelated families of Greek origin with autosomal dominant inheritance for the PD phenotype.
Journal ArticleDOI
The ubiquitin pathway in Parkinson's disease
Elisabeth Leroy,Rebecca Boyer,Georg Auburger,Barbara Leube,Gudrun Ulm,Eva Mezey,G Harta,Michael J. Brownstein,Sobhanadditya Jonnalagada,Tanya Chernova,Anindya Dehejia,Christian Lavedan,Thomas Gasser,Peter J. Steinbach,Keith D. Wilkinson,Mihael H. Polymeropoulos +15 more
TL;DR: It is shown that in a German family with Parkinson's disease a missense mutation in the ubiquitin carboxy-terminal hydrolase L1 (UCH-L1) gene causes a partial loss of the catalytic activity of this thiol protease, which could lead to aberrations in the proteolytic pathway and aggregation of proteins.
Journal ArticleDOI
The synuclein family.
TL;DR: The present review offers a synopsis of the current state of knowledge of all synuclein family members in different species.
Journal ArticleDOI
Identification, localization and characterization of the human γ-synuclein gene
Christian Lavedan,Elisabeth Leroy,Anindya Dehejia,Stephanie Buchholtz,Amalia Dutra,Robert L. Nussbaum,Mihael H. Polymeropoulos +6 more
TL;DR: The γ-synuclein gene, also known as BCSG1, was recently found to be overexpressed in advanced infiltrating carcinoma of the breast and the survey of the EST database indicated that it might also be overexpressed in an ovarian tumor.
Journal ArticleDOI
Deletions in the Parkin gene and genetic heterogeneity in a greek family with early onset Parkinson's disease
Elisabeth Leroy,Dimitri Anastasopoulos,Spiridon Konitsiotis,Christian Lavedan,M. H. Polymeropoulos +4 more
TL;DR: It is demonstrated that deletions of exons 5, 6 and 7 of the parkin gene are present in two affected individuals of a Greek pedigree with early onset Parkinson’s disease and that there must be at least one additional locus responsible for early onset autosomal recessive Parkinson's disease.