J
Jean-Louis Mandel
Researcher at University of Strasbourg
Publications - 372
Citations - 39716
Jean-Louis Mandel is an academic researcher from University of Strasbourg. The author has contributed to research in topics: Gene & Fragile X syndrome. The author has an hindex of 101, co-authored 362 publications receiving 37522 citations. Previous affiliations of Jean-Louis Mandel include French Institute of Health and Medical Research & Collège de France.
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Journal ArticleDOI
Intranuclear Inclusions of Expanded Polyglutamine Protein in Spinocerebellar Ataxia Type 3
Henry L. Paulson,Matthew K. Perez,Yvon Trottier,John Q. Trojanowski,S. H. Subramony,S.S Das,Parminder J. S. Vig,Jean-Louis Mandel,Kenneth H. Fischbeck,Randall N. Pittman +9 more
TL;DR: It is suggested that intranuclear aggregation of the expanded protein is a unifying feature of CAG/polyglutamine diseases and may be initiated or catalyzed by a glutamine-containing fragment of the disease protein.
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Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion
Gilles David,Nacer Abbas,Giovanni Stevanin,Alexandra Durr,Gaël Yvert,Géraldine Cancel,Chantal Weber,Georges Imbert,Frédéric Saudou,Eric Antoniou,Harry A. Drabkin,Robert M. Gemmill,Paola Giunti,Ali Benomar,Nicholas W. Wood,Merle Ruberg,Yves Agid,Jean-Louis Mandel,Alexis Brice +18 more
TL;DR: Gonadal instability in SCA7 is greater than that observed in any of the seven known neuro-degenerative diseases caused by translated CAG repeat expansions, and is markedly associated with paternal transmissions.
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The FMR-1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation.
TL;DR: Immunohistochemistry shows a cytoplasmic localization of FMR–1, and the highest levels were observed in neurons, while glial cells contain very low levels, in epithelial tissues, and in adult testis, FMR-1 was detected only in spermatogonia.
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Frataxin is Reduced in Friedreich Ataxia Patients and is Associated with Mitochondrial Membranes
Victoria Campuzano,Laura Montermini,Yves Lutz,Lidia Cova,Colette Hindelang,Sarn Jiralerspong,Yvon Trottier,Stephen J. Kish,Baptiste Faucheux,Paul Trouillas,François J. Authier,Alexandra Durr,Jean-Louis Mandel,Angelo L. Vescovi,Massimo Pandolfo,Massimo Pandolfo,Michel Koenig +16 more
TL;DR: The data suggest that a reduction in frataxin results in oxidative damage, given the shared clinical features between Friedreich ataxia, vitamin E deficiency and some mitochondriopathies.
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Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias
Yvon Trottier,Yves Lutz,Giovanni Stevanin,Georges Imbert,Didier Devys,Géraldine Cancel,Frédéric Saudou,Chantal Weber,Gilles David,Laszlo Tora,Yves Agid,Alexis Brice,Jean-Louis Mandel +12 more
TL;DR: The characterization of a monoclonal antibody is reported that selectively recognizes polyglutamine expansion in the proteins implicated in HD and in spinocerebellar ataxia (SCA) 1 and 3 and detects specific pathological proteins expected to contain such expansion.